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CC2D1A Gene

protein-coding   GIFtS: 57
GCID: GC19P014016

Coiled-Coil And C2 Domain Containing 1A

  See CC2D1A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Coiled-Coil And C2 Domain Containing 1A1 2     nonsyndromic1
Five Prime Repressor Element Under Dual Repression-Binding Protein 12 3     FREUD-12
Putative NF-Kappa-B-Activating Protein 023N2 3     Freud-1/Aki12
Akt Kinase-Interacting Protein 12 3     Coiled-Coil And C2 Domain-Containing Protein 1A2
FRE Under Dual Repression-Binding Protein 12 3     Five Repressor Element Under Dual Repression-Binding Protein 12
MRT32 5     Mental Retardation, Nonsyndromic, Autosomal Recessive, 32
31     Putative NFkB Activating Protein2
Autosomal Recessive1     AKI13
Mental Retardation1     Freud-13

External Ids:    HGNC: 302371   Entrez Gene: 548622   Ensembl: ENSG000001320247   OMIM: 6100555   UniProtKB: Q6P1N03   

Export aliases for CC2D1A gene to outside databases

Previous GC identifers: GC19P013865 GC19P013588


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CC2D1A Gene:
This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates
expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and
transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in
nonsyndromic mental retardation-3.(provided by RefSeq, Oct 2009)

GeneCards Summary for CC2D1A Gene:
CC2D1A (coiled-coil and C2 domain containing 1A) is a protein-coding gene. Diseases associated with CC2D1A include mental retardation, and mental retardation, autosomal recessive 43. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription and signal transducer activity. An important paralog of this gene is CC2D1B.

UniProtKB/Swiss-Prot: C2D1A_HUMAN, Q6P1N0
Function: Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A
gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding
with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression.
Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in
controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its
localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when
nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby
mediating centriole cohesion during mitosis

Gene Wiki entry for CC2D1A Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CC2D1A gene promoter:
         Elk-1   Olf-1   NF-AT   AREB6   NF-AT4   PPAR-gamma1   NF-AT2   NF-AT3   PPAR-gamma2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CC2D1A promoter sequence
   Search Chromatin IP Primers for CC2D1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CC2D1A


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

Entrez Gene cytogenetic band: 19p13.12   Ensembl cytogenetic band:  19p13.12   HGNC cytogenetic band: 19p13.12

CC2D1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CC2D1A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P014016:  view genomic region     (about GC identifiers)

Start:
14,016,956 bp from pter      End:
14,041,693 bp from pter
Size:
24,738 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: C2D1A_HUMAN, Q6P1N0 (See protein sequence)
Recommended Name: Coiled-coil and C2 domain-containing protein 1A  
Size: 951 amino acids; 104062 Da
Sequence caution: Sequence=BAA91029.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Sequence=BAB15464.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q7Z435 Q86XV0 Q8NF89 Q9H603 Q9NXI1
Alternative splicing: 2 isoforms:  Q6P1N0-1   Q6P1N0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CC2D1A: NX_Q6P1N0

Explore proteomics data for CC2D1A at MOPED

Post-translational modifications: 

  • Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD211
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CC2D1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060191.3  
    ENSEMBL proteins: 
     ENSP00000313601   ENSP00000467526   ENSP00000465376   ENSP00000466586  

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    Search eBioscience for ELISAs for CC2D1A 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000008 C2_dom
     IPR006608 DM14

    Graphical View of Domain Structure for InterPro Entry Q6P1N0

    ProtoNet protein and cluster: Q6P1N0

    1 Blocks protein domain: IPB000008 C2 domain

    UniProtKB/Swiss-Prot: C2D1A_HUMAN, Q6P1N0
    Domain: The C2 domain is required for the repression (By similarity)
    Similarity: Belongs to the CC2D1 family
    Similarity: Contains 1 C2 domain


    Find genes that share domains with CC2D1A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C2D1A_HUMAN, Q6P1N0
    Function: Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A
    gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding
    with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression.
    Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in
    controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its
    localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when
    nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby
    mediating centriole cohesion during mitosis

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA--
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IEA--
    GO:0004871signal transducer activity IMP12761501
    GO:0005515protein binding ----
         
    Find genes that share ontologies with CC2D1A           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cc2d1a):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  immune system 
     mortality/aging  nervous system  respiratory system 

    Find genes that share phenotypes with CC2D1A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CC2D1A: Cc2d1atm1Bisu Cc2d1atm1Zjc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CC2D1A
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    Selected qRT-PCR Assays for microRNAs that regulate CC2D1A (see all 35):
    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-219-5p hsa-miR-632 hsa-miR-508-3p hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidCC2D1A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CC2D1A

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    GenScript: all cDNA clones in your preferred vector: CC2D1A (NM_017721)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    C2D1A_HUMAN, Q6P1N0: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol3
    mitochondrion2
    endosome1
    lysosome1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with CC2D1A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CC2D1A About    
    See pathways by source

    SuperPathContained pathways About
    1SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways


    1 BioSystems Pathway for CC2D1A
        SIDS Susceptibility Pathways


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CC2D1A
    Interactions:

        GeneGlobe Interaction Network for CC2D1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for CC2D1A (Q6P1N02, 3 ENSP000003136014) via UniProtKB, MINT, STRING, and/or I2D (see all 112)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC37Q165432, 3, ENSP000002220054MINT-8250811 I2D: score=2 STRING: ENSP00000222005
    CHMP4AQ9BY433, ENSP000003242054I2D: score=1 STRING: ENSP00000324205
    NCOA2Q155963, ENSP000003999684I2D: score=1 STRING: ENSP00000399968
    XPNPEP3Q9NQH73, ENSP000003496584I2D: score=1 STRING: ENSP00000349658
    CHMP4CQ96CF23, ENSP000002972654I2D: score=1 STRING: ENSP00000297265
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0007165signal transduction IMP12761501
    GO:0043123positive regulation of I-kappaB kinase/NF-kappaB signaling IMP12761501

    Find genes that share ontologies with CC2D1A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CC2D1A (C2D1A)

    1 HMDB Compound for CC2D1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CC2D1A gene: 
    NM_017721.4  

    Unigene Cluster for CC2D1A:

    Coiled-coil and C2 domain containing 1A
    Hs.269592  [show with all ESTs]
    Unigene Representative Sequence: NM_017721
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000318003(uc002mxn.2 uc002mxo.2 uc002mxp.2 uc010dzh.2 uc002mxq.1)
    ENST00000585896 ENST00000589606 ENST00000586955 ENST00000589138 ENST00000589679
    ENST00000588932 ENST00000587508 ENST00000589224
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CC2D1A (see all 35):
    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-219-5p hsa-miR-632 hsa-miR-508-3p hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidCC2D1A 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat CC2D1A
      QuantiFast Probe-based Assays in human, mouse, rat CC2D1A

    Additional mRNA sequence: 

    AB097002.1 AK000248.1 AK026371.1 AK315068.1 BC006556.2 BC048345.1 BC064981.1 BC113968.1 

    11 DOTS entries:

    DT.111857  DT.101982169  DT.40226985  DT.406237  DT.100795306  DT.436995  DT.99951790  DT.100642398 
    DT.103023  DT.121500068  DT.121500065 

    Selected AceView cDNA sequences (see all 151):

    BM786546 BX352893 CB153751 CA431486 AK023399 CB158192 AK026371 CR608350 
    AK000482 AI364740 BU543884 BU168947 AA112929 BC006556 BQ051621 BM711613 
    BU860052 BC048345 BM665524 AU134397 BM471101 BM782763 AJ712854 BC064981 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CC2D1A (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a ·
    SP1:                                                                                            -           -     -                                             
    SP2:                                                                                            -     -     -     -                                             
    SP3:                                                        -     -     -     -     -     -     -     -     -     -     -                                       
    SP4:                    -     -                                                                 -                                                               
    SP5:                                                                                                                                                            

    ExUns: 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
    SP1:                                      -     -                                             
    SP2:                                      -     -                                             
    SP3:                                      -     -                                             
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for CC2D1A

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CC2D1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATAAAATA
    CC2D1A Expression
    About this image


    CC2D1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    CC2D1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CC2D1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.269592
        Custom PCR Arrays for CC2D1A
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    In Situ
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CC2D1A gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cc2d1a1 , 5 coiled-coil and C2 domain containing 1A1, 5 81.27(n)1
    81.87(a)1
      8 (40.32 cM)5
    2121391  NM_145970.11  NP_666082.21 
     841328285 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    63(a)
    56(a)
    many → 1
    many → 1
    AAWZ02041590(3103-4562)
    2(77013177-77075953)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF216559.12   -- 74.5(n)    CF216559.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CC2D1A6
    coiled-coil and C2 domain containing 1A
    47(a)
    1 ↔ 1
    1(55755229-55778413) ENSDARG00000036281
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)gd11 lethal (2) giant discs 1 48.92(n)
    39.69(a)
      34543  NM_001259047.1  NP_001245976.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y37H9A.31 CELE_Y37H9A.3 43.35(n)
    33.44(a)
      173244  NM_061011.2  NP_493412.2 


    ENSEMBL Gene Tree for CC2D1A (if available)
    TreeFam Gene Tree for CC2D1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CC2D1A gene
    CC2D1B2  
    1 SIMAP similar gene for CC2D1A using alignment to 4 protein entries:     C2D1A_HUMAN (see all proteins):
    CC2D1B

    Find genes that share paralogs with CC2D1A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CC2D1A (see all 707)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1859306161,2
    --13611944(+) CCTGGA/CGGGGG 1 -- int10--------
    rs1412634871,2
    C--13951142(+) CACCAC/TGCCCA 1 -- us2k10--------
    rs1901183411,2
    --13951185(+) GATCTC/TGCTAT 1 -- us2k10--------
    rs123277071,2
    C--13951261(+) taggaC/Ttacag 1 -- us2k10--------
    rs1396496491,2
    --13951366(+) TTGCCC/TAGGCT 1 -- us2k10--------
    rs1827128651,2
    C--13951383(+) CAGTGA/GCACCA 1 -- us2k10--------
    rs1442681961,2
    --13951475(+) TGTGCC/TACAAC 1 -- us2k10--------
    rs1500596001,2
    C--13951512(+) AGAGAC/TGGGGT 1 -- us2k10--------
    rs1998299501,2
    --13951723(+) ACAAGC/TGTCCA 1 -- us2k10--------
    rs1400313541,2
    C--13951727(+) GTGTCC/TATTTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CC2D1A (14016956 - 14041693 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CC2D1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911102CNV Loss21882294
    nsv833757CNV Loss17160897
    dgv3738n71CNV Loss21882294
    nsv833760CNV Loss17160897
    dgv3741n71CNV Loss21882294
    nsv911098CNV Loss21882294
    dgv3739n71CNV Loss21882294
    dgv3740n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): CC2D1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CC2D1A
    DNA2.0 Custom Variant and Variant Library Synthesis for CC2D1A

    (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.)
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    OMIM gene information: 610055   
    OMIM disorders: 608443  
    UniProtKB/Swiss-Prot: C2D1A_HUMAN, Q6P1N0
  • Mental retardation, autosomal recessive 3 (MRT3) [MIM:608443]: A disorder characterized by significantly
    below average general intellectual functioning associated with impairments in adaptive behavior and manifested
    during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 2 diseases for CC2D1A:    
    About MalaCards
    mental retardation    mental retardation, autosomal recessive 43

    1 disease from the University of Copenhagen DISEASES database for CC2D1A:
    Intellectual disability

    Find genes that share disorders with CC2D1A           About GenesLikeMe

    Genetic Association Database (GAD): CC2D1A
    Human Genome Epidemiology (HuGE) Navigator: CC2D1A (1 document)

    Export disorders for CC2D1A 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)
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    PubMed articles for CC2D1A gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with CC2D1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. (PubMed id 16033914)1, 2, 3 Basel-Vanagaite L....Shohat M. (J. Med. Genet. 2006)
    2. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PubMed id 12761501)1, 2, 3 Matsuda A....Sugano S. (Oncogene 2003)
    3. Mitotic phosphorylation of Aki1 at Ser208 by cyclin B1-Cdk1 complex. (PubMed id 20171170)1, 2 Nakamura A.... Fujita N. (Biochem. Biophys. Res. Commun. 2010)
    4. Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration. (PubMed id 18806297)1, 4 McKay G.J....Hughes A.E. (amp 2009)
    5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    6. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Differential repression by freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor gene. (PubMed id 17535813)1, 9 Rogaeva A....Albert P.R. (J. Biol. Chem. 2007)
    10. The Freud-1/CC2D1A family: transcriptional regulators implicated in mental retardation. (PubMed id 17394259)1, 9 Rogaeva A....Albert P.R. (J. Neurosci. Res. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54862 HGNC: 30237 AceView: FLJ20241 Ensembl:ENSG00000132024 euGenes: HUgn54862
    ECgene: CC2D1A H-InvDB: CC2D1A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CC2D1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CC2D1A gene:
    Search GeneIP for patents involving CC2D1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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