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EFCAB7 Gene

protein-coding   GIFtS: 45
GCID: GC01P063989

EF-Hand Calcium Binding Domain 7

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(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
EF-Hand Calcium Binding Domain 71 2
EF-Hand Calcium-Binding Domain-Containing Protein 72
KIAA17993

External Ids:    HGNC: 293791   Entrez Gene: 844552   Ensembl: ENSG000002039657   UniProtKB: A8K8553   

Export aliases for EFCAB7 gene to outside databases

Previous GC identifers: GC01P063761 GC01P062097


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for EFCAB7 Gene:
EFCAB7 (EF-hand calcium binding domain 7) is a protein-coding gene. GO annotations related to this gene include calcium ion binding.


(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_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EFCAB7 gene promoter:
         Pax-6   Pax-2   Pax-2a   FOXL1   AREB6   Pax-3   POU2F1   POU2F1b   POU2F1a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEFCAB7 promoter sequence
   Search Chromatin IP Primers for EFCAB7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EFCAB7


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

Entrez Gene cytogenetic band: 1p31.3   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31.3

EFCAB7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFCAB7 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P063989:  view genomic region     (about GC identifiers)

Start:
63,989,013 bp from pter      End:
64,038,364 bp from pter
Size:
49,352 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EFCB7_HUMAN, A8K855 (See protein sequence)
Recommended Name: EF-hand calcium-binding domain-containing protein 7  
Size: 629 amino acids; 71981 Da
Sequence caution: Sequence=BAB47428.1; Type=Erroneous initiation;
Secondary accessions: Q658P0 Q96B95 Q96JM6
Alternative splicing: 2 isoforms:  A8K855-1   A8K855-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EFCAB7: NX_A8K855

Explore proteomics data for EFCAB7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EFCAB7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115813.2  
    ENSEMBL proteins: 
     ENSP00000360129  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    3 InterPro protein domains:
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry A8K855

    ProtoNet protein and cluster: A8K855

    UniProtKB/Swiss-Prot: EFCB7_HUMAN, A8K855
    Similarity: Contains 3 EF-hand domains


    Find genes that share domains with EFCAB7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with EFCAB7           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for EFCAB7

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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    plasma membrane2

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EFCAB7
    Interactions:

        Search GeneGlobe Interaction Network for EFCAB7

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for EFCAB7 (ENSP000003601294) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PI4KBENSP000002716574STRING: ENSP00000271657
    CETN3ENSP000002831224STRING: ENSP00000283122
    About this table

    (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 EFCAB7 (EFCB7)



    (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 EFCAB7 gene: 
    NM_032437.2  

    Unigene Cluster for EFCAB7:

    EF-hand calcium binding domain 7
    Hs.652324  [show with all ESTs]
    Unigene Representative Sequence: AB058702
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000480886 ENST00000371088(uc001dbf.3) ENST00000493605 ENST00000496956
    ENST00000460678 ENST00000461039
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      QuantiFast Probe-based Assays in human, mouse, rat EFCAB7

    Additional mRNA sequence: 

    AB058702.1 AK092219.1 AK292220.1 AK315850.1 AL833720.1 BC015814.1 

    4 DOTS entries:

    DT.86853560  DT.100821954  DT.100821952  DT.97861898 

    Selected AceView cDNA sequences (see all 69):

    AI277599 AA400005 BF115321 AI989837 BF111199 AK092219 AA307892 R46805 
    AI640798 BU620632 AA905286 AA741483 AW205244 AI688852 AI689951 BM802659 
    BX105630 AF254117 AL710961 BE504962 AB058702 BF343562 AK022419 BM146133 

    GeneLoc Exon Structure


    (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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    EFCAB7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTATGTACTT
    EFCAB7 Expression
    About this image

    EFCAB7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EFCAB7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.652324
        Custom PCR Arrays for EFCAB7
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    In Situ
    Assay Products:
     

     
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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 EFCAB7 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Efcab71 , 5 EF-hand calcium binding domain 71, 5 85.99(n)1
    82.96(a)1
      4 (45.71 cM)5
    2305001  NM_145549.11  NP_663524.11 
     998291985 
    chicken
    (Gallus gallus)
    Aves EFCAB71 EF-hand calcium binding domain 7 72.73(n)
    65.87(a)
      100858847  XM_003641717.2  XP_003641765.1 
    lizard
    (Anolis carolinensis)
    Reptilia EFCAB76
    EF-hand calcium binding domain 7
    59(a)
    1 ↔ 1
    4(99187678-99219363)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia efcab71 EF-hand calcium binding domain 7 67.25(n)
    62.2(a)
      100494954  XM_004913933.1  XP_004913990.1 
    zebrafish
    (Danio rerio)
    Actinopterygii efcab71 EF-hand calcium binding domain 7 59.78(n)
    56.33(a)
      415210  NM_001002120.1  NP_001002120.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T02G5.36
    Protein T02G5.3 (T02G5.3) mRNA, complete cds
    20(a)
    1 ↔ 1
    II(7094277-7099284) WBGene00020163


    ENSEMBL Gene Tree for EFCAB7 (if available)
    TreeFam Gene Tree for EFCAB7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EFCAB7 gene
    3 SIMAP similar genes for EFCAB7 using alignment to 1 protein entry:     EFCB7_HUMAN:
    CALM1    CALM2    CALM3

    Find genes that share paralogs with EFCAB7           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 EFCAB7 (see all 815)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1842692371,2
    --63991035(+) TTGTTG/TAATAT 1 -- int10--------
    rs94366861,2
    C,F,H--63991140(+) TTCTAC/TGTATA 1 -- int117Minor allele frequency- T:0.05NA NS EA WA CSA 928
    rs1892674211,2
    --63991189(+) GACATC/TTGTGT 1 -- int10--------
    rs2014434571,2
    C--63991217(+) ACAAAA/CACATT 1 -- int10--------
    rs2005227741,2
    C--63991239(+) TTCCAA/GTAGAA 1 -- int11Minor allele frequency- G:0.00EU 1293
    rs2174781,2
    C,F,O,A,H--63991267(+) AGCGAC/TGCAAC 2 D syn1 ese326Minor allele frequency- N:0.00EA NA NS WA CSA EU 8337
    rs171251061,2,,4
    C,F,H--63991322(+) AGAAAT/ATTCCA 2 /I /F mis110Minor allele frequency- A:0.03NA NS EA WA 5180
    rs1509592221,2
    C,F--63991328(+) TTCCAC/GTAACT 2 L V mis11Minor allele frequency- G:0.00NA 4440
    rs1432570511,2
    C,F--63991379(+) TAACTG/ATCTTC 2 /I /V mis11Minor allele frequency- A:0.00NA 4152
    rs354466261,2
    C,F--63991490(+) GGTCCG/AAAAGA 1 -- int17Minor allele frequency- A:0.13NA WA EA 366

    HapMap Linkage Disequilibrium report for EFCAB7 (63989013 - 64038364 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for EFCAB7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1143CNV Insertion18451855
    nsv870480CNV Loss21882294
    nsv871689CNV Loss21882294
    nsv461672CNV Gain19166990
    nsv470714CNV Gain18288195
    nsv823076CNV Gain20364138
    nsv510935CNV Complex20534489

    Site Specific Mutation Identification with PCR Assays
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    (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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      --

    (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 EFCAB7 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with EFCAB7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2001)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    4. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (Genome Res. 2000)

    (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: 84455 HGNC: 29379 AceView: KIAA1799 Ensembl:ENSG00000203965 euGenes: HUgn84455
    ECgene: EFCAB7 H-InvDB: EFCAB7

    (According to HUGE)
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    HUGE: KIAA1799

    (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 EFCAB7 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 EFCAB7 gene:
    Search GeneIP for patents involving EFCAB7

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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