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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CALCOCO1 Gene

protein-coding   GIFtS: 51
GCID: GC12M054105

calcium binding and coiled-coil domain 1

 Explore 4 diseases affiliated with
CALCOCO1 via our new
 Human Malady Compendium 
Biological research products
for CALCOCO1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Calcium Binding And Coiled-Coil Domain 11 2     Sarcoma Antigen NY-SAR-32 3
Cocoa1 2     Calcium-Binding And Coiled-Coil Domain-Containing Protein 12
Calphoglin3     Coiled-Coil Leucine Zipper Coactivator 12
KIAA15361 3     Inorganic Pyrophosphatase Activator2
Coiled-Coil Coactivator Protein2 3     Calphoglin3

External Ids:    HGNC: 293061   Entrez Gene: 576582   Ensembl: ENSG000000128227   UniProtKB: Q9P1Z23   
ORGUL members:         
NONCODE:n407142    

Export aliases for CALCOCO1 gene to outside databases

Previous GC identifers: GC12M052392 GC12M051142


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CACO1_HUMAN, Q9P1Z2
Function: Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through
its contact with the N-terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or
coactivators, such as NCOA2. During ER-activation acts synergistically in combination with other NCOA2-binding
proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the
Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1-mediated transcriptional activation via its
interaction with CTNNB1. Coactivator function for nuclear receptors and LEF1/CTNNB1 involves differential utilization
of two different activation regions (By similarity)
Function: Seems to enhance inorganic pyrphosphatase thus activating phosphogluomutase (PMG). Probably functions as
component of the calphoglin complex, which is involved in linking cellular metabolism (phosphate and glucose
metabolism) with other core functions including protein synthesis and degradation, calcium signaling and cell growth

Gene Wiki entry for CALCOCO1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CALCOCO1 gene promoter:
         COUP-TF1   FOXF2   COUP   HNF-4alpha2   Gfi-1   HNF-4alpha1   Pax-3   S8   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCALCOCO1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CALCOCO1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CALCOCO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

CALCOCO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CALCOCO1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M054105:  view genomic region     (about GC identifiers)

Start:
54,104,902 bp from pter      End:
54,121,529 bp from pter
Size:
16,628 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CACO1_HUMAN, Q9P1Z2 (See protein sequence)
Recommended Name: Calcium-binding and coiled-coil domain-containing protein 1  
Size: 691 amino acids; 77336 Da
Subunit: Part of a calphoglin complex consisting of CALCOCO1, PPA1 and PGM. Interacts with the bHLH-PAS domains of
GRIP1, AHR and ARNT. Interacts with CTNNB1 via both its N- and C-terminal regions. Interacts with EP300 (By
similarity)
Subcellular location: Cytoplasm. Nucleus. Note=Shuttles between nucleus and cytoplasm (By similarity)
Sequence caution: Sequence=BAA96060.1; Type=Erroneous initiation;
Secondary accessions: B3KVA8 Q6FI59 Q71RC3 Q86WF8 Q96JU3 Q9H090
Alternative splicing: 4 isoforms:  Q9P1Z2-1   Q9P1Z2-2   Q9P1Z2-3   Q9P1Z2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CALCOCO1: NX_Q9P1Z2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P1Z2

  • CALCOCO1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001137154.1  NP_065949.1  

    ENSEMBL proteins: 
     ENSP00000456437   ENSP00000397189   ENSP00000262059   ENSP00000447647   ENSP00000449960  
     ENSP00000450083   ENSP00000448621   ENSP00000447117   ENSP00000449058   ENSP00000446820  
     ENSP00000448026   ENSP00000450012   ENSP00000449796   ENSP00000399426  

    Human Recombinant Protein Products: 
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    OriGene Custom Protein Services for CALCOCO1 
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    Novus Biologicals CALCOCO1 Protein
    Novus Biologicals CALCOCO1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CALCOCO1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IEA--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0043231intracellular membrane-bounded organelle IDA--


    CALCOCO1 for ontologies           About GeneDecksing



    CALCOCO1 Antibody Products: 
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    Novus Biologicals CALCOCO1 Antibodies
    Search for Antibodies for CALCOCO1 at Abcam  
    Uscn Antibodies for CALCOCO1
    Search ThermoFisher Antibodies for CALCOCO1

    Assay Products for CALCOCO1: 
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    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CALCOCO1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CALCOCO1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CALCOCO1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR012852 CoCoA

    Graphical View of Domain Structure for InterPro Entry Q9P1Z2

    ProtoNet protein and cluster: Q9P1Z2

    1 Blocks protein family: IPB012852 Coiled-coil transcriptional coactivator-like

    UniProtKB/Swiss-Prot: CACO1_HUMAN, Q9P1Z2
    Domain: The C-terminal activation region (AD) is used for downstream signaling. Seems to be essential for coactivator
    function with nuclear receptors and with the aryl hydrocarbon receptor (By similarity)
    Domain: The N-terminal activation region (AD) is necessary and sufficient for synergistic activation of LEF1-mediated
    transcription by CTNNB1. Contains a EP3000 binding region which is important for synergistic cooperation (By
    similarity)
    Domain: Recruitment by nuclear receptors is accomplished by the interaction of the coiled-coiled domain with p160
    coactivators (By similarity)
    Similarity: Belongs to the CALCOCO family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CACO1_HUMAN, Q9P1Z2
    Function: Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through
    its contact with the N-terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or
    coactivators, such as NCOA2. During ER-activation acts synergistically in combination with other NCOA2-binding
    proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the
    Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1-mediated transcriptional activation via its
    interaction with CTNNB1. Coactivator function for nuclear receptors and LEF1/CTNNB1 involves differential utilization
    of two different activation regions (By similarity)
    Function: Seems to enhance inorganic pyrphosphatase thus activating phosphogluomutase (PMG). Probably functions as
    component of the calphoglin complex, which is involved in linking cellular metabolism (phosphate and glucose
    metabolism) with other core functions including protein synthesis and degradation, calcium signaling and cell growth

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CALCOCO1
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate CALCOCO1 (see all 12):
    hsa-miR-137 hsa-miR-487a hsa-miR-486-3p hsa-miR-4260 hsa-miR-3157-5p hsa-miR-154* hsa-miR-3605-5p hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidCALCOCO1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALCOCO1

    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0003712transcription cofactor activity IDA16344550
    GO:0003713transcription coactivator activity ISS--
    GO:0005515protein binding IPI16344550
    GO:0008013beta-catenin binding IPI16344550


    CALCOCO1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Calcoco1tm1Lex for CALCOCO1
         1 MGI phenotypic allele for Calcoco1 (no phenotypes)

    CALCOCO1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CALCOCO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/44 Interacting proteins for CALCOCO1 (Q9P1Z22, 3 ENSP000002620594) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent ISS--
    GO:0007165signal transduction ISS--
    GO:0016055Wnt receptor signaling pathway IEA--
    GO:0030518intracellular steroid hormone receptor signaling pathway ISS--
    GO:0045893positive regulation of transcription, DNA-dependent IMP16344550


    CALCOCO1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CALCOCO1

    1 HMDB Compound for CALCOCO1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about CALCOCO1 / CACO1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CALCOCO1 gene (2 alternative transcripts): 
    NM_001143682.1  NM_020898.2  

    Unigene Cluster for CALCOCO1:

    Calcium binding and coiled-coil domain 1
    Hs.156667  [show with all ESTs]
    Unigene Representative Sequence: AF370415
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000546443 ENST00000430117 ENST00000262059(uc001sef.3 uc010som.2 uc010son.2 uc009znd.3 uc001seg.3)
    ENST00000548263(uc001see.3 uc001seh.2) ENST00000550804 ENST00000549935(uc010soo.1)
    ENST00000549613 ENST00000552282 ENST00000547988 ENST00000551900 ENST00000546619
    ENST00000547949 ENST00000553154 ENST00000549784 ENST00000549173 ENST00000548177
    ENST00000552623 ENST00000549349

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CALCOCO1
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate CALCOCO1 (see all 12):
    hsa-miR-137 hsa-miR-487a hsa-miR-486-3p hsa-miR-4260 hsa-miR-3157-5p hsa-miR-154* hsa-miR-3605-5p hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidCALCOCO1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CALCOCO1 (see all 7)
    OriGene shRNA RFP: CALCOCO1
    OriGene siRNA: CALCOCO1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CALCOCO1
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CALCOCO1 (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CALCOCO1 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CALCOCO1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CALCOCO1

    Additional cDNA sequence: 

    AB040969.1 AF370415.1 AK027881.1 AK092788.1 AK122773.1 AK222646.1 AK294424.1 AK296497.1 
    AK309199.1 AK315578.1 AL136895.1 AY211909.1 AY358397.1 AY563137.1 BC003177.1 BX538208.1 
    CR533567.1 NR_026554.1 

    24 DOTS entries:

    DT.95304157  DT.417860  DT.95237851  DT.40296235  DT.91758204  DT.121124009  DT.100828568  DT.100828563 
    DT.100828566  DT.91710713  DT.95237849  DT.121123986  DT.121124011  DT.121124014  DT.91758207  DT.91758212 
    DT.91758213  DT.95228852  DT.100828572  DT.121123989  DT.91758216  DT.99969194  DT.100828561  DT.121123975 

    24/397 AceView cDNA sequences (see all 397):

    AL546118 BC003177 CA394013 BE220385 CA439740 BQ007149 BX441267 AI796841 
    W52224 BQ774442 BQ899098 AI693806 AK027881 BQ954329 AA338669 CA437503 
    AY358397 AA913672 BQ026889 AW513707 AB040969 BM711961 AW273283 AI347694 

    GeneLoc Exon Structure

    5/22 Alternative Splicing Database (ASD) splice patterns (SP) for CALCOCO1 (see all 22)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b ^
    SP1:                                      -     -     -                             -                             -                       -                 -   
    SP2:                                                                                -                             -                       -                 -   
    SP3:                                      -     -     -                             -     -     -     -     -     -                       -                 -   
    SP4:                                      -     -     -                             -     -     -                 -                       -                 -   
    SP5:                                                                                -                             -                       -                 -   

    ExUns: 15a · 15b · 15c ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23
    SP1:                                                                                      -         
    SP2:                                                                                      -         
    SP3:                                                                                      -         
    SP4:  -     -     -                                                                       -         
    SP5:                                                                                                


    ECgene alternative splicing isoforms for CALCOCO1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CALCOCO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAAGAAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CALCOCO1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CALCOCO1

    SOURCE GeneReport for Unigene cluster: Hs.156667
        SABiosciences Custom PCR Arrays for CALCOCO1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALCOCO1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CALCOCO1 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Calcoco11 , 5 calcium binding and coiled coil domain 11, 5 87.94(n)1
    89.29(a)1
      15 (57.81 cM)5
    674881  NM_026192.31  NP_080468.11 
     1027067795 
    lizard
    (Anolis carolinensis)
    Reptilia CALCOCO16
    --
    57(a)
    1 ↔ 1
    2(72777087-72799516)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3981952 nuclear domain-10 protein NDP52 72.1(n)    AF312719.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC051625.12   -- 75.69(n)   386968  BC051625.1 


    ENSEMBL Gene Tree for CALCOCO1 (if available)
    TreeFam Gene Tree for CALCOCO1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CALCOCO1 gene
    CALCOCO22  TAX1BP12  
    3 SIMAP similar genes for CALCOCO1 using alignment to 12 protein entries:     CACO1_HUMAN (see all proteins):
    DKFZp686A11272    TAX1BP1    CALCOCO2

    CALCOCO1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    298/328 NCBI SNPs in CALCOCO1 are shown (see all 328    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1114846711,2
    --54104430(+) AACAGA/CAACAG 3 -- ds50012Minor allele frequency- C:0.05CSA WA 120
    rs796264481,2
    C,F,--54104444(+) GAATAT/AAAAAT 3 -- ds50012Minor allele frequency- A:0.02WA NA 238
    rs767452181,2
    F,--54104686(+) ACTGCC/TGCATT 3 -- ds50012Minor allele frequency- T:0.09NA EA 240
    rs1471395111,2
    --54104877(+) TGATAA/CGAACA 3 -- ds50010--------
    rs1881747641,2
    --54104925(+) ATTTGC/TTCAAA 3 -- ut31 nc-transcript-variant0--------
    rs1929242141,2
    --54104960(+) GAAGCC/TTTTAT 3 -- nc-transcript-variantut310--------
    rs1154448231,2
    F,--54104997(+) GGGGGC/GCTTGG 3 -- nc-transcript-variantut311Minor allele frequency- G:0.28WA 118
    rs610981751,2
    C,F,--54105038(+) CCCATT/CCCTCA 3 -- nc-transcript-variantut313Minor allele frequency- C:0.26CSA WA 122
    rs37416621,2
    C,F,H,--54105074(-) CTCACA/GTGGAA 3 -- nc-transcript-variantut31 ese322Minor allele frequency- G:0.13NS EA NA WA CSA 2260
    rs1823754721,2
    --54105086(+) AGATGC/TGAGGA 3 -- nc-transcript-variantut310--------
    rs1387269151,2
    --54105107(+) AATACA/GGGAAT 3 -- nc-transcript-variantut310--------
    rs1427309021,2
    --54105174(+) AGGGTA/GGGGCA 3 -- ut31 nc-transcript-variant0--------
    rs1866972441,2
    --54105304(+) CCAACA/GGAAAC 3 -- ut31 nc-transcript-variant0--------
    rs1447947741,2
    --54105431(+) GTGGAC/TGATTC 3 -- nc-transcript-variantut310--------
    rs1485524161,2
    --54105514(+) GCTTCC/TGAACA 3 -- ut31 nc-transcript-variant0--------
    rs1429113911,2
    --54105515(+) CTTCCA/GAACAG 3 -- nc-transcript-variantut310--------
    rs1923778321,2
    --54105538(+) GGACAA/CAAGAG 3 -- nc-transcript-variantut310--------
    rs1847953961,2
    --54105541(+) CAAAAC/GAGCCA 3 -- nc-transcript-variantut310--------
    rs2010379351,2
    --54105696(+) CATGAC/GTGTGT 3 -- nc-transcript-variantut310--------
    rs2005334851,2
    --54105715(+) ATGTAC/TGAGGG 3 -- ut31 nc-transcript-variant0--------
    rs1131227161,2
    C,F,--54105727(+) GTAAGA/G/TTCACT 6 -- nc-transcript-variantut313CSA WA NA 4659
    rs2017893721,2
    C,--54105868(+) GCCCCC/TAGTGC 5 R G mis10--------
    rs342813791,2
    C,F,--54105889(+) CAGGGT/GACCCA 5 /T /P mis13Minor allele frequency- G:0.02NA WA 4418
    rs344898751,2
    C,F,--54106046(+) CACAGC/TGTCTT 3 -- int13Minor allele frequency- T:0.09NA 124
    rs783660141,2
    --54106173(+) ATCTCC/TGTCTG 3 -- int11Minor allele frequency- T:0.01WA 118
    rs37416611,2
    C,H,--54106249(-) TGATGC/TTGTCA 3 -- int15Minor allele frequency- T:0.00NS EA 540
    rs37416601,2
    C,H,--54106250(-) GTGATG/TCTGTC 3 -- int15Minor allele frequency- T:0.00NS EA 540
    rs1507016511,2
    --54106297(+) AAACCA/GGGACT 3 -- int10--------
    rs1888758601,2
    --54106515(+) GGGGGC/TCATGG 3 -- int10--------
    rs111706551,2
    C,A,H--54106550(+) CCCTAG/AGTACC 3 -- int14Minor allele frequency- A:0.00NS EA 404
    rs1922553481,2
    --54106559(+) CCTACC/TTGGTG 3 -- int10--------
    rs1401752271,2
    --54106609(+) GCAATC/TTGGGC 3 -- int10--------
    rs2012939301,2
    --54106836(+) CTTTCC/TCTCTG 3 -- int10--------
    rs1141951081,2
    C,--54106861(+) CCCTCC/GTGGCC 3 -- int10--------
    rs37416561,2
    C,F,H,--54107163(-) CCACAG/CTCATT 3 -- int114Minor allele frequency- C:0.11EA NS NA WA 2090
    rs1848717311,2
    --54107167(+) ACTGTC/GGGGGA 3 -- int10--------
    rs1436357591,2
    --54107183(+) AGTGAA/GGCTAT 3 -- int10--------
    rs1467724271,2
    --54107238(+) GAAGAA/GAGGCT 3 -- int10--------
    rs1893819071,2
    --54107240(+) AGAGAC/GGCTGG 3 -- int10--------
    rs574577051,2
    C,F,--54107311(+) TAGCCG/AGGGGT 3 -- int17Minor allele frequency- A:0.15NA WA EA 366
    rs1126768881,2
    C,--54107365(+) GGATCG/ACTTCA 3 -- int12Minor allele frequency- A:0.03WA 120
    rs1406145621,2
    --54107385(+) GCAGAC/GGCTGC 3 -- int10--------
    rs118321711,2
    C,F,H,--54107405(+) AGATCG/ATGCTG 3 -- int12Minor allele frequency- A:0.04NA WA 122
    rs1996924891,2
    --54107503(+) CTGTCC/TTCAGC 5 E nc-transcript-variantsyn10--------
    rs1442660901,2
    C,F,--54107509(+) TCAGCT/CGGCCC 5 /P syn12Minor allele frequency- C:0.00NA EU 5213
    rs342290621,2
    C,F,--54107594(+) AGGAGC/ACTGGG 5 /G /V nc-transcript-variantmis14Minor allele frequency- A:0.01NA EU 5469
    rs1166741281,2
    C,F,--54107597(+) AGCCTG/CGGTCT 5 /P /R nc-transcript-variantmis11Minor allele frequency- C:0.00NA 4488
    rs1404318111,2
    C--54107662(+) TCTGAG/CTCTGT 5 /D /E mis11Minor allele frequency- C:0.00NA 3806
    rs2007424271,2
    --54107668(+) TCTGTC/TAGAGC 5 L syn10--------
    rs2001163621,2
    --54107686(+) CAGCCC/TGTAGG 3 -- spa10--------
    rs1164627011,2
    C,F,--54107729(+) GTTGTG/AAGGAG 3 -- int11Minor allele frequency- A:0.03WA 118
    rs1488867031,2
    --54107746(+) CAGCTA/GTCTCC 3 -- int10--------
    rs1435474441,2
    C,--54107887(+) GGGAAA/GAGGTG 3 -- int10--------
    rs1157046431,2
    C,F,--54107929(+) CACAGC/TGGCCT 5 T A mis12Minor allele frequency- T:0.01WA NA 4666
    rs557519361,2
    C,--54108140(+) CCTTCA/GGCAAA 3 -- int12Minor allele frequency- G:0.12WA 120
    rs1480729851,2
    --54108148(+) AAAGAC/TTGGGG 3 -- int10--------
    rs22773681,2
    C,F,O,A,H,--54108228(-) GACAGG/CGGATG 3 -- int118Minor allele frequency- C:0.46EA NA NS WA CSA 2294
    rs1814529451,2
    --54108259(+) AGAAGC/GCAGGG 3 -- int10--------
    rs1422250501,2
    --54108267(+) GGGTAC/TGGGCC 3 -- int10--------
    rs2016775671,2
    --54108425(+) GCACAC/TGCAGG 5 H R nc-transcript-variantmis10--------
    rs1457796881,2
    C,--54108483(+) CTGAGA/GGAAGA 3 -- int10--------
    rs1386214971,2
    C,--54108489(+) GAAGAA/GGGCCC 3 -- int10--------
    rs1858434481,2
    C,--54108497(+) CCCAAC/TGGAAT 3 -- int10--------
    rs1486003171,2
    C,--54108601(+) CTCTG-/ACACACA 3 -- int10--------
    rs769457711,2
    C,F,--54108627(+) CAACAC/TTTCCT 3 -- int16Minor allele frequency- T:0.16WA CSA EA 248
    rs171020461,2
    C,F,H,--54108636(+) CTCCAT/CGAGTA 3 -- int122Minor allele frequency- C:0.10NA NS EA WA CSA 2084
    rs1427631981,2
    --54108637(+) TCCATA/GAGTAC 3 -- int10--------
    rs1507523151,2
    --54108647(+) CTTTGC/TCTTGG 3 -- int10--------
    rs1883992411,2
    --54108731(+) GGGGTA/GCAGAG 3 -- int10--------
    rs22773671,2
    C,F,O,H,--54108777(-) GGTGAC/TTTAGG 3 -- int129Minor allele frequency- T:0.12EA NA NS WA 4424
    rs1818827061,2
    --54108802(+) ATGTGC/TGCCCT 3 -- int10--------
    rs1379743211,2
    --54108859(+) TGCAAA/GTGAAA 3 -- int10--------
    rs2010137201,2
    --54108959(+) GACAGG/TACCCT 3 -- int10--------
    rs343113411,2
    C,F,--54109000(+) CCTTCT/CCCCGG 5 /E /G nc-transcript-variantmis13Minor allele frequency- C:0.00NA WA 4744
    rs2000120091,2
    --54109072(+) GAAGTA/TTCTCT 5 K I mis10--------
    rs1386393291,2
    C,F--54109095(+) AGGATC/ATTGTC 5 /K /N mis12Minor allele frequency- A:0.00NA EU 5875
    rs1865706111,2
    C,--54109119(+) GAGATA/GGCCAA 3 -- int10--------
    rs1496250411,2
    --54109169(+) GCCACC/TGTCAA 3 -- int10--------
    rs1906315901,2
    --54109280(+) CAGGAC/TATGAC 3 -- int10--------
    rs1832486041,2
    --54109395(+) TACCCC/TGGTTA 3 -- int10--------
    rs1870175771,2
    --54109447(+) AGCCCA/CTCTCC 3 -- int10--------
    rs2022048851,2
    --54109535(+) GTGGGA/GGCAGT 3 -- int10--------
    rs2014547631,2
    --54109551(+) TCAGAC/TTGCCA 3 -- int10--------
    rs37416591,2
    C,F,A,H,--54109659(-) CGGCAG/AGCTGG 5 /K /R mis131Minor allele frequency- A:0.19EA NA NS WA EU 10667
    rs1416199031,2
    C,F,--54109676(+) TCAGCC/GACTTC 5 V nc-transcript-variantsyn11Minor allele frequency- G:0.00NA 4552
    rs1394100171,2
    C--54109719(+) GGTCCC/TTGGCT 5 K R nc-transcript-variantmis11Minor allele frequency- T:0.00NA 4552
    rs1997750971,2
    C,--54109726(+) GGCTGC/TTGCTG 5 T A mis10--------
    rs37416581,2
    C,F,A,H,--54109733(-) GCCAGT/CGCAGC 5 /S nc-transcript-variantsyn1 ese330Minor allele frequency- C:0.38EA NA NS WA CSA EU 9540
    rs2013455611,2
    --54109820(+) AAGGGC/TTCCAG 5 E nc-transcript-variantsyn10--------
    rs2008922321,2
    --54109837(+) CTCAGA/GAGAAA 3 -- int10--------
    rs22773701,2
    C,F,O,A,H,--54109927(-) ACCCCG/AAGTCC 3 -- int122Minor allele frequency- A:0.27EA NA NS WA 3982
    rs1443348011,2
    --54109928(+) GACTCA/GGGGTT 3 -- int10--------
    rs1910343001,2
    --54109979(+) AGACAC/TGCAGG 3 -- int10--------
    rs171020581,2
    C,F,H,--54109980(+) GACACG/ACAGGC 3 -- int128Minor allele frequency- A:0.09NA NS EA WA CSA 2693
    rs1999901221,2
    --54110063(+) CCTGGA/CCTAGG 4 G V nc-transcript-variantint1 mis10--------
    rs1473024471,2
    C,F--54110102(+) TCAGTC/TGCTGA 4 Q R nc-transcript-variantmis1 int12Minor allele frequency- T:0.00NA EU 5875
    rs1401813651,2
    C,F,--54110127(+) CTCCTC/GTTGCC 4 Q E int1 mis12Minor allele frequency- G:0.00NA EU 5875
    rs2006436631,2
    F--54110128(+) TCCTCT/CTGCCA 4 /Q syn1 int11Minor allele frequency- C:0.00EU 1323
    rs2015088701,2
    --54110140(+) CTCTTC/TGCCTC 4 A nc-transcript-variantint1 syn10--------
    rs22773691,2
    C,F,O,H,--54110197(-) CAGGCT/CGAGCT 4 /A int1 syn130Minor allele frequency- C:0.10EA NA NS EU 10175
    rs1438592381,2
    --54110252(+) TGGCTC/TGGGAG 3 -- int10--------
    rs1159866621,2
    F,--54110351(+) TTCTCA/GGCTCA 3 -- int11Minor allele frequency- G:0.03WA 118
    rs1463061361,2
    --54110488(+) AACTCA/GGTCTT 3 -- int10--------
    rs1395479171,2
    --54110565(+) ATTTCC/TGTCCA 3 -- int10--------
    rs1427825481,2
    --54110590(+) TCCCAC/TGTTAC 3 -- int10--------
    rs1833452281,2
    --54110591(+) CCCACA/GTTACT 3 -- int10--------
    rs764040061,2
    C,F,--54110883(+) TCTGTC/TGCCAA 3 -- int11Minor allele frequency- T:0.06WA 118
    rs1114717121,2
    F,--54110920(+) GCTCAC/TTGCAG 3 -- int13Minor allele frequency- T:0.12CSA WA 122
    rs1510747431,2
    --54111130(+) ACAGGC/TGTGGG 3 -- int10--------
    rs1409896841,2
    --54111142(+) CACTAA/CACCTG 3 -- int10--------
    rs111706571,2
    C,F,A,H,--54111151(+) TGGCCA/GTAAGT 3 -- int122Minor allele frequency- G:0.16NS EA NA WA 2482
    rs1177988961,2
    --54111259(+) TATCTC/AAAACA 3 -- int11Minor allele frequency- A:0.01NA 120
    rs1499320191,2
    --54111273(+) CACCCA/GCACAT 3 -- int10--------
    rs111706581,2
    C,F,H,--54111424(+) ATAAAC/TCCAGG 3 -- int121Minor allele frequency- T:0.15NS EA NA WA 1530
    rs1476042181,2
    --54111492(+) TATTAA/CCAATT 3 -- int10--------
    rs1422908371,2
    --54111583(+) TGGGCA/GGATCA 3 -- int10--------
    rs111706591,2
    C,F,--54111625(+) caacaT/Cggtga 3 -- int14Minor allele frequency- C:0.38NA WA 8
    rs47590511,2
    --54111670(+) TGGGCA/GTGGTG 3 -- int10--------
    rs619227741,2
    --54111758(+) GAGCCA/GAGATC 3 -- int10--------
    rs1165867841,2
    F,--54111802(+) AAACTC/TCGTCT 3 -- int11Minor allele frequency- T:0.03WA 118
    rs105794511,2
    C,--54111878(+) TTGAC-/ATATGTT 3 -- int10--------
    rs2019838761,2
    --54111881(+) ACATA-/TGTTTCC 3 -- int10--------
    rs1865768731,2
    --54111910(+) TGCAAA/GGCTCA 3 -- int10--------
    rs111706601,2
    C,F,H,--54111928(+) TTCTAC/GTGTAT 3 -- int114Minor allele frequency- G:0.13NS EA NA WA 928
    rs1434407581,2
    --54111939(+) TTTCTA/TTTGAA 3 -- int10--------
    rs111706611,2
    C,F,A,H,--54111965(+) AGTTGC/TAAGGT 3 -- int122Minor allele frequency- T:0.14NS EA NA WA 2478
    rs1465959061,2
    C,--54111985(+) AAAAA-/TTGTTATT 3 -- int10--------
    rs767238851,2
    C--54111987(+) AAATTA/GTTATT 3 -- int10--------
    rs765170481,2
    C,F,--54112052(+) AATACG/AGAAAT 3 -- int13Minor allele frequency- A:0.12CSA WA 122
    rs111706621,2
    C,F,H,--54112090(+) GTCTTC/TGATAG 3 -- int18Minor allele frequency- T:0.21NS EA WA NA 780
    rs1125439601,2
    F--54112132(+) ATTACC/TTAAGT 3 -- int12Minor allele frequency- T:0.50CSA 4
    rs794110081,2
    --54112138(+) TAAGTG/CCTTTC 3 -- int13Minor allele frequency- C:0.12CSA WA 121
    rs284518691,2
    C,F,--54112362(+) GGCTGA/GAGTTC 3 -- int15Minor allele frequency- G:0.15NA WA CSA 128
    rs111706631,2
    C,F,A,--54112381(+) GATCAC/TAGCAC 3 -- int16Minor allele frequency- T:0.30NA WA CSA 130
    rs1480199411,2
    --54112426(+) TTCCAA/CCTCAG 3 -- int10--------
    rs1898425931,2
    --54112503(+) GAGATA/GGGGTC 3 -- int10--------
    rs1832007531,2
    --54112849(+) CTGGTC/GTTGAA 3 -- int10--------
    rs1879370331,2
    --54112877(+) GCCTGC/TCTCTG 3 -- int10--------
    rs1932564501,2
    --54112919(+) CCACTA/GTGCCT 3 -- int10--------
    rs1416560741,2
    --54112999(+) GGAGCG/TCCACA 3 -- int10--------
    rs1136873241,2
    --54113149(+) TACTAC/AAAATA 3 -- int12Minor allele frequency- A:0.33CSA 3
    rs1389302531,2
    --54113158(+) TACAAA/CAGTTA 3 -- int10--------
    rs1850086581,2
    --54113197(+) CCCCGC/TTGCTC 3 -- int10--------
    rs73022581,2
    C,A,H,--54113222(+) TGAGAG/ATTGCT 3 -- int14Minor allele frequency- A:0.21NA WA EA 360
    rs754560861,2
    C,--54113240(+) AGGAGG/TCAGAG 3 -- int11Minor allele frequency- T:0.50WA 2
    rs1887484231,2
    --54113271(+) TACCAC/TTGCAC 3 -- int10--------
    rs1926386401,2
    --54113307(+) TCTGTC/GTCCAA 3 -- int10--------
    rs1842990681,2
    --54113380(+) TCCTGA/TTTTAG 3 -- int10--------
    rs1464040531,2
    --54113415(+) GAGTGC/TACACA 3 -- int10--------
    rs1397546761,2
    C,--54113563(+) GTTGCC/TCAAGG 5 E G nc-transcript-variantmis10--------
    rs38328281,2
    C,--54113699(-) AGCAG-/CAGCAG 3 -- int10--------
    rs1882545631,2
    --54113863(+) TTTTGC/TTGATG 3 -- int10--------
    rs9411881,2
    C,F,A,H,--54113924(-) ACTGCC/TCTTGT 3 -- int124Minor allele frequency- T:0.20NS EA NA WA 2770
    rs9411871,2
    H--54113957(-) ctgGTC/GTAGAT 3 -- int14Minor allele frequency- G:0.00NS EA 420
    rs9411861,2
    C,F,A,H,--54114098(-) TCATGC/TTCATT 3 -- int19Minor allele frequency- T:0.21NS EA WA NA 782
    rs9411851,2
    C,F,H,--54114129(-) TTCAAA/GTCTGT 3 -- int123Minor allele frequency- G:0.10NS EA NA WA CSA 2372
    rs9411841,2
    C,F,H,--54114158(-) ATTTTG/ATGACA 3 -- int111Minor allele frequency- A:0.11NS EA NA WA CSA 670
    rs111706651,2
    H--54114282(+) ctgGTC/TTAGAT 3 -- int14Minor allele frequency- T:0.00NS EA 406
    rs1810752221,2
    --54114467(+) TTTTTA/TAAAAT 3 -- int10--------
    rs1495753911,2
    --54114683(+) TATAGA/GAGAGG 3 -- int10--------
    rs753699111,2
    F,--54114805(+) GCTAAG/CAGTTT 3 -- int11Minor allele frequency- C:0.07WA 118
    rs10792691,2
    C,F,H,--54114819(+) ATTTGC/TATCTT 3 -- int19Minor allele frequency- T:0.21NS EA NA WA 774
    rs111706661,2
    C,F,H,--54114846(+) GATTCC/TATAAC 3 -- int120Minor allele frequency- T:0.11NS EA NA WA 2474
    rs770722961,2
    --54114874(+) TATAAT/AGTTTC 3 -- int12Minor allele frequency- A:0.12CSA WA 120
    rs20772851,2
    C,F,O,H,--54114923(+) GGCCAA/CATCTG 3 -- int130Minor allele frequency- C:0.45NS EA NA WA CSA 2960
    rs1441999121,2
    --54114963(+) TTCCAA/TCCATT 3 -- int10--------
    rs1837901551,2
    --54114964(+) TCCATC/TCATTC 3 -- int10--------
    rs1893151031,2
    --54115150(+) GAAAGC/TGTGTG 3 -- int10--------
    rs9411831,2
    C,F,H,--54115179(-) TCTCAG/AGCAAG 3 -- int117Minor allele frequency- A:0.06MN NS EA NA WA 2124
    rs780026151,2
    --54115185(+) TGAGAG/AAGGGG 3 -- int11Minor allele frequency- A:0.01NA 120
    rs73108481,2
    C,H,--54115236(+) GGTCAG/ATGGAC 3 -- int14Minor allele frequency- A:0.00NS EA 414
    rs1487463011,2
    C,--54115301(+) TGGATG/ATCATC 5 /D syn11Minor allele frequency- A:0.00NA 4552
    rs2000820261,2
    --54115318(+) CTCCAA/GGATGC 5 L nc-transcript-variantsyn10--------
    rs1510238841,2
    C,F--54115357(+) CAGGAT/CGTCCC 5 /I /V nc-transcript-variantmis11Minor allele frequency- C:0.00NA 4552
    rs2021688551,2
    --54115398(+) AAATCC/TCCTGA 5 E G nc-transcript-variantmis10--------
    rs1824414111,2
    --54115557(+) CCTTAA/CCTATC 3 -- int10--------
    rs1423105611,2
    --54115565(+) ATCAAC/TGTGGC 3 -- int10--------
    rs802234691,2
    F,--54115618(+) GTCTCA/GTTACA 3 -- int14Minor allele frequency- G:0.15CSA WA 124
    rs10793401,2
    C,F,O,H,--54115624(-) CAAACG/TTGTAA 3 -- int119Minor allele frequency- T:0.37NS EA NA MN WA CSA 1749
    rs775921741,2
    --54115625(+) TACACG/ATTTGG 3 -- int11Minor allele frequency- A:0.01NA 120
    rs22934421,2
    C,F,O,H,--54115686(-) CAAGGA/CAATAG 3 -- int133Minor allele frequency- C:0.11EA NA NS WA CSA 4511
    rs1476209951,2
    --54115692(+) CCTTGA/GTGCCA 3 -- int10--------
    rs1467313731,2
    C--54115831(+) GCTCCG/ATGTGC 5 /T /M mis11Minor allele frequency- A:0.00NA 4552
    rs2013097841,2
    C,--54115843(+) CCTGCA/CTGGCA 5 R M mis10--------
    rs1405339731,2
    C,--54115866(+) CTCTCA/GAGCTC 5 L nc-transcript-variantsyn10--------
    rs770350731,2
    C,F,--54115875(+) TCCTGC/TACTCG 5 V nc-transcript-variantsyn12Minor allele frequency- T:0.00EA NA 4672
    rs353587491,2
    C,F--54115940(+) ATTCCG/ATTCTT 5 /R /W nc-transcript-variantmis13Minor allele frequency- A:0.00NA EU 5951
    rs1443917841,2
    C,F,--54115959(+) TCATCG/AAGCTG 5 /L syn11Minor allele frequency- A:0.00NA 4552
    rs47590521,2
    C,F,A,H,--54116217(+) CCTCAT/CCCAGC 3 -- int123Minor allele frequency- C:0.21NS EA NA WA CSA 2368
    rs1866192421,2
    --54116290(+) AATTTC/TACCCT 3 -- int10--------
    rs1165854221,2
    F,--54116385(+) TCACTG/ATGTTG 3 -- int11Minor allele frequency- A:0.03WA 118
    rs1143613811,2
    F,--54116418(+) AGCCAT/CAGGTG 3 -- int11Minor allele frequency- C:0.03WA 118
    rs1919843621,2
    --54116510(+) AGATGC/TATGCC 3 -- int10--------
    rs1478609821,2
    --54116524(+) ACACCC/TAGCTA 3 -- int10--------
    rs1812123431,2
    --54116601(+) CCTTAA/GTCTGA 3 -- int10--------
    rs1856274611,2
    --54116645(+) TGAAAC/GCGCAA 3 -- int10--------
    rs1403912271,2
    --54116646(+) GAAACC/TGCAAC 3 -- int10--------
    rs588978061,2
    C--54116728(+) AAAAA-/AGAAAA 3 -- int11Minor allele frequency- A:0.50NA 2
    rs752482741,2
    --54116746(+) AAAAAG/AAAAAG 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs1896956761,2
    --54116984(+) CAGGTC/TTGGGG 3 -- int10--------
    rs1820526261,2
    --54117031(+) AAGCAG/TGTCCT 3 -- int10--------
    rs111706681,2
    H--54117147(+) AAGTTC/ATTATG 3 -- int14Minor allele frequency- A:0.00NS EA 420
    rs1866867091,2
    --54117206(+) ATGTTC/TGTGTA 3 -- int10--------
    rs22934411,2
    C,F,A,H,--54117265(-) ACCTCG/CTTGAA 3 -- int124Minor allele frequency- C:0.21EA NS NA WA 3928
    rs1502973431,2
    C,F,--54117448(+) CACCAG/ATTCAT 5 /L syn12Minor allele frequency- A:0.00NA EU 5875
    rs1441160781,2
    C,F,--54117487(+) AGGGGG/AGCTCT 4 /P /S int1 mis11Minor allele frequency- A:0.00NA 4552
    rs107835961,2
    C,F,A,H,--54117592(+) CCCAGG/AACCCC 3 -- int118Minor allele frequency- A:0.19NS EA NA WA 2338
    rs1448701751,2
    C,--54117612(+) CTGTCC/GTTGGC 3 -- int10--------
    rs1490629921,2
    --54117718(+) TTCCTC/TTCTTT 3 -- int10--------
    rs733054281,2
    C,F,--54117852(+) CTCCAT/CCGCCC 3 -- int15Minor allele frequency- C:0.18WA CSA EA 126
    rs619227751,2
    C,F,--54117878(+) GGCGCG/AATCTT 3 -- int13Minor allele frequency- A:0.05NA 124
    rs1147935721,2
    --54117972(+) ACCACA/GCCTGG 3 -- int10--------
    rs733054301,2
    C,F,--54117981(+) GGCCTG/ACAGCT 3 -- int12Minor allele frequency- A:0.50WA CSA 4
    rs1918706711,2
    --54118098(+) TAAGTA/GTTAGA 3 -- int10--------
    rs1430635621,2
    --54118144(+) CCACAG/TAATTC 3 -- int10--------
    rs1385788351,2
    --54118157(+) CCTTTC/TCCTCT 3 -- int10--------
    rs1421894001,2
    --54118211(+) TAGATA/GCCCTC 3 -- int10--------
    rs778080761,2
    C,F,--54118274(+) CTATCC/TGCTGA 3 -- int11Minor allele frequency- T:0.19NA 120
    rs125817801,2
    H--54118356(+) TGTTTC/TTGAGC 3 -- int14Minor allele frequency- T:0.00NS EA 420
    rs1457953351,2
    --54118372(+) ACCTTA/CTTTCA 3 -- int10--------
    rs1473190531,2
    F--54118454(+) TGAATG/TGGGGA 5 P syn1 int11Minor allele frequency- T:0.00NA 4550
    rs360492321,2
    C,F,--54118483(+) AGGCAC/TGGAAG 5 M V int1 mis12Minor allele frequency- T:0.01NA 4628
    rs1419776351,2
    C,--54118551(+) GGTTGA/GAGAAA 3 -- int10--------
    rs1996131841,2
    --54118562(+) GGTATG/TGTCAT 3 -- int10--------
    rs1166818541,2
    C,--54118564(+) TATGGT/CCATGG 3 -- int11Minor allele frequency- C:0.01WA 118
    rs171021811,2
    C,F,H,--54118740(+) GGCCTC/GTGTCA 3 -- int123Minor allele frequency- G:0.18NA NS EA WA 2902
    rs1506192121,2
    --54118801(+) AAGAGA/CCCAAT 3 -- int10--------
    rs787316041,2
    C,F,--54118992(+) CACCAC/TGGGAT 5 H R nc-transcript-variantmis12Minor allele frequency- T:0.00NA EU 5875
    rs1499983531,2
    C,F--54119004(+) GTGCCC/TGGCTT 5 Q R nc-transcript-variantmis12Minor allele frequency- T:0.00NA EU 5875
    rs2015922681,2
    C,--54119068(+) GGGTTG/AATAGC 3 -- int11Minor allele frequency- A:0.00EU 1131
    rs1493450101,2
    --54119105(+) CCCCCA/CACAGC 3 -- int10--------
    rs750796491,2
    C,F,--54119229(+) ACGTAG/CGTCTG 3 -- int13Minor allele frequency- C:0.09WA NA EA 358
    rs79700101,2
    C,F,A,H,--54119247(+) AAGTCC/TGTCCC 3 -- int113Minor allele frequency- T:0.22NA NS EA WA 924
    rs1841644221,2
    --54119297(+) CTTCTG/TAGGGT 3 -- int10--------
    rs1474922371,2
    --54119340(+) ACTGAC/TGGGGA 3 -- int10--------
    rs1158256841,2
    --54119363(+) TACTGC/TGACTT 3 -- int10--------
    rs731040221,2
    C,F,--54119414(+) CCTGGC/TTCTTG 3 -- int11Minor allele frequency- T:0.10NA 120
    rs743522431,2
    F,--54119458(+) CATTGA/CGAGAG 3 -- int11Minor allele frequency- C:0.03WA 118
    rs1148217881,2
    F,--54119481(+) ACTCCT/AAAGCT 3 -- int11Minor allele frequency- A:0.03WA 118
    rs1155786891,2
    F,--54119590(+) GGGGTC/AGAGGG 3 -- int11Minor allele frequency- A:0.03WA 118
    rs1883199061,2
    --54119826(+) GGAACA/GTGGTG 3 -- int10--------
    rs1113463051,2
    C,--54119970(+) AGTTC-/AAAAAG 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs1931959391,2
    --54120271(+) TCACTC/TCTTTC 3 -- int10--------
    rs1145352471,2
    --54120292(+) ATCTAT/CTTCCT 3 -- int11Minor allele frequency- C:0.01WA 118
    rs1399671321,2
    --54120305(+) GTCACC/TCACAG 3 -- int10--------
    rs1428652871,2
    C,--54120330(+) AGCCA-/TTTGTC 3 -- int10--------
    rs1841632551,2
    --54120424(+) ACTCAG/TTGGAT 3 -- int10--------
    rs123197411,2
    C,F,H,--54120457(+) AAGGAG/ACAACT 3 -- int16Minor allele frequency- A:0.01NS EA WA 532
    rs780816911,2
    F,--54120458(+) AGGAGC/GAACTT 3 -- int12Minor allele frequency- G:0.11NA EA 240
    rs1444618021,2
    --54120572(+) AGCTTC/TCTAAG 3 -- int10--------
    rs1869976181,2
    --54120995(+) CCACCC/TCCAAT 3 -- int10--------
    rs1170613641,2
    --54121021(+) ACCAAG/TAACTC 3 -- int11Minor allele frequency- T:0.01EA 120
    rs793264901,2
    F,--54121543(+) CGTTGT/CTGGGG 3 -- us2k11Minor allele frequency- C:0.04WA 118
    rs784043781,2
    F,--54121585(+) CATATA/GACGCT 3 -- us2k11Minor allele frequency- G:0.06NA 120
    rs1478117271,2
    --54121727(+) AGTGTC/TAAAGC 3 -- us2k10--------
    rs1484836181,2
    --54121759(+) AGCCTA/TGGCTA 3 -- us2k10--------
    rs1426543061,2
    --54121761(+) CCTTGC/GCTAAT 3 -- us2k10--------
    rs1509364451,2
    --54121889(+) AGAATG/TATGTC 3 -- us2k10--------
    rs1125455561,2
    C,F,--54121960(+) TATCCA/GCATCT 3 -- us2k13Minor allele frequency- G:0.13CSA WA 122
    rs171022211,2
    C,F,H,--54122073(-) TATGCC/TAAGCT 3 -- us2k127Minor allele frequency- T:0.19NA MN EA NS WA 3244
    rs803064461,2
    F,--54122211(+) AAAGAT/CTGACA 3 -- us2k11Minor allele frequency- C:0.04WA 118
    rs1150430121,2
    --54122223(+) GTCTCC/TCACAC 3 -- us2k11Minor allele frequency- T:0.01WA 118
    rs38091581,2
    C,F,--54122329(-) TTTAAT/CGCAGA 3 -- us2k11Minor allele frequency- C:0.03EA 120
    rs1407427841,2
    --54122404(+) AGTTAC/TGGAGC 3 -- us2k10--------
    rs1918241751,2
    --54122471(+) CTGCCC/TTCAGT 3 -- us2k10--------
    rs1156298991,2
    F,--54122601(+) AGGAGG/ATAGCT 3 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1836730591,2
    --54122615(+) GGTCTA/GGAGTG 3 -- us2k10--------
    rs1170306711,2
    --54122873(+) TTGCCT/AGGAGT 3 -- us2k11Minor allele frequency- A:0.01EA 120
    rs1142628081,2
    --54122910(+) AGATTT/GAAGCA 3 -- us2k11Minor allele frequency- G:0.01WA 118
    rs795070581,2
    F,--54122948(+) AAACTC/TTGGCA 3 -- us2k11Minor allele frequency- T:0.19NA 120
    rs1431568141,2
    --54123055(+) AGTAAC/TGTGAA 3 -- us2k10--------
    rs1895328601,2
    --54123160(+) TAATAA/TATGTA 3 -- us2k10--------
    rs45268071,2
    F,--54123187(-) tacatT/Atatta 3 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1819972941,2
    --54123296(+) AAGCTG/TCTTCT 3 -- us2k10--------
    rs2004083241,2
    ----54108458(+) CCCGCT/GTACTT 5 /K /T nc-transcript-variantmis11Minor allele frequency- G:0.00EU 1321
    rs1452010131,2
    ----54119005(+) TGCCCG/AGCTTA 5 /R /W mis11Minor allele frequency- A:0.00NA 4552
    rs569160641,2
    ----54111987(+) AAATT-/GTTATTTG 3 -- int10--------
    rs73019831,2
    ----54113039(+) gcgcaA/Gtggct 3 -- int10--------
    rs2015654871,2
    ----54107926(+) CCCCAC/GAGCGG 5 L V mis11Minor allele frequency- G:0.00EU 1323
    rs1455467991,2
    ----54105849(+) TCCATG/TTGGGG 5 K T nc-transcript-variantmis11Minor allele frequency- T:0.00NA 4532
    rs1431961261,2
    ----54118461(+) GGGAAC/ACATCA 5 /G /V int1 mis11Minor allele frequency- A:0.00NA 4550
    rs2008623701,2
    ----54107485(+) CTCACC/TGAGTC 5 S nc-transcript-variantsyn11Minor allele frequency- T:0.00EU 711
    rs774506911,2
    ----54120331(+) GCCAT-/TTGTCA 3 -- int10--------
    rs357953381,2
    ----54112051(+) AATAC-/GGGAAA 3 -- int10--------
    rs1409505481,2
    ----54118455(+) GAATGG/CGGGAA 5 /P /R mis1 int11Minor allele frequency- C:0.00NA 4550
    rs2018720651,2
    ----54107953(+) GGTGGC/TATCCT 5 T A nc-transcript-variantmis10--------
    rs349334501,2
    ----54105625(+) ATCAT-/GGAGCC 3 -- nc-transcript-variantut310--------
    rs1485173951,2
    ----54115342(+) TCCCTG/ATTGCC 5 /Q /* nc-transcript-variantstg11Minor allele frequency- A:0.00NA 4552
    rs1112340621,2
    ----54107864(+) CCTCAG/ACAGCG 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs123212631,2
    ----54120770(+) CTGTAA/GGGCTC 3 -- int10--------
    rs1379783681,2
    ----54115904(+) CTGTCC/TCTCCA 5 R G mis11Minor allele frequency- T:0.00NA 4552
    rs344093991,2
    ----54109572(+) TCCCT-/ACTACC 3 -- int10--------
    rs1995643801,2
    ----54108428(+) CACGCA/GGGGCT 5 P L nc-transcript-variantmis11Minor allele frequency- G:0.00EU 1323
    rs2009676971,2
    ----54113885(+) TTTCA-/CTCAATC 3 -- int10--------
    rs1448450041,2
    ----54115830(+) AGCTCC/TGTGTG 5 T syn11Minor allele frequency- T:0.00NA 4552
    rs2018806861,2
    ----54118962(+) AGGTCC/TGGGCT 5 Q R mis10--------
    rs2006793071,2
    ----54109566(+) CCCCCC/TATCCC 3 -- int11Minor allele frequency- T:0.00EU 1323
    rs619227731,2
    ----54104465(+) GGTATA/GAGGCT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for CALCOCO1 (54104902 - 54121529 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CALCOCO1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CALCOCO1
    DNA2.0 Custom Variant and Variant Library Synthesis for CALCOCO1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CALCOCO1 for disorders           About GeneDecksing

    4 diseases for CALCOCO1:    About MalaCards
    sarcoma    panic disorder    breast cancer    ataxia

    Human Genome Epidemiology (HuGE) Navigator: CALCOCO1 (3 documents)

    Export disorders for CALCOCO1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CALCOCO1 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with CALCOCO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
    2. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (2000)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Immunomic analysis of human sarcoma. (PubMed id 12601173)1, 2 Lee S.-Y.... Scanlan M.J. (2003)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. Cellular signaling mediated by calphoglin-induced activation of IPP and PGM. (PubMed id 15522220)1, 9 Takahashi K....Ingi T. (2004)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    9. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
    10. Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. (PubMed id 19953087)1 Persaud A....Rotin D. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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