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

C2CD4A Gene

protein-coding   GIFtS: 39
GCID: GC15P062360

C2 calcium-dependent domain containing 4A

(Previous names: family with sequence similarity 148, member A )
(Previous symbol: FAM148A)
  Search for C2CD4A
in our new
 Human Malady Compendium 
Biological research products
for C2CD4A
    

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

Aliases
C2 Calcium-Dependent Domain Containing 4A1 2     Nuclear-Localized Factor 12 3
NLF11 2 3 5     C2 Calcium-Dependent Domain-Containing Protein 4A2
FAM148A1 2 3     Nuclear Localized Factor 12
Family With Sequence Similarity 148, Member A1 2     Protein FAM148A3

External Ids:    HGNC: 336271   Entrez Gene: 1457412   Ensembl: ENSG000001985357   OMIM: 6103435   UniProtKB: Q8NCU73   

Export aliases for C2CD4A gene to outside databases

Previous GC identifers: GC15P060148 GC15P039181


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

UniProtKB/Swiss-Prot: C2C4A_HUMAN, Q8NCU7
Function: May be involved in inflammatory process. May regulate cell architecture and adhesion




(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_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for C2CD4A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC2CD4A promoter sequence
   Search SABiosciences Chromatin IP Primers for C2CD4A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2CD4A


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

Entrez Gene cytogenetic band: 15q22.2   Ensembl cytogenetic band:  15q22.2   HGNC cytogenetic band: 15q22.2

C2CD4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2CD4A gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P062360:  view genomic region     (about GC identifiers)

Start:
62,359,176 bp from pter      End:
62,363,116 bp from pter
Size:
3,941 bases      Orientation:
plus 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: C2C4A_HUMAN, Q8NCU7 (See protein sequence)
Recommended Name: C2 calcium-dependent domain-containing protein 4A  
Size: 369 amino acids; 39744 Da
Subcellular location: Nucleus

Explore the universe of human proteins at neXtProt for C2CD4A: NX_Q8NCU7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NCU7

  • C2CD4A Protein expression data from MOPED and PaxDb:    About this image 
    C2CD4A Protein Expression
    REFSEQ proteins: NP_997205.2  
    ENSEMBL proteins: 
     ENSP00000347712  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    C2CD4A for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q8NCU7

    UniProtKB/Swiss-Prot: C2C4A_HUMAN, Q8NCU7
    Similarity: Belongs to the C2CD4 family
    Similarity: Contains 1 C2 domain


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C2C4A_HUMAN, Q8NCU7
    Function: May be involved in inflammatory process. May regulate cell architecture and adhesion
    Induction: Up-regulated by pro-inflammatory cytokines

    Phenotypes:
         1 GenomeRNAi human phenotype for C2CD4A:

     Decreased viability with pacli 

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    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C2CD4A

    (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
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    Browse Tocris compounds for C2CD4A
    Search CenterWatch for drugs/clinical trials and news about C2CD4A / C2C4A 

    (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,
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    About This Section

    REFSEQ mRNAs for C2CD4A gene: 
    NM_207322.2  

    Unigene Cluster for C2CD4A:

    C2 calcium-dependent domain containing 4A
    Hs.202656  [show with all ESTs]
    Unigene Representative Sequence: NM_207322
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000355522(uc002ahf.4)

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    Additional cDNA sequence: 

    AF504646.1 BX648578.1 

    1 DOTS entry:

    DT.97842125 

    24/72 AceView cDNA sequences (see all 72):

    BM128587 AI341395 AW139874 BM068855 AW197466 BM772827 AI832148 BM766044 
    CK906221 BM742013 CK906222 BM783372 BU948771 BM772844 BE467405 AI656199 
    AW593828 BM829924 CK818870 BE218239 AW001393 AA931812 AI913984 AW015108 

    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™, 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

    C2CD4A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCATTAAAA
    C2CD4A Expression
    About this image
    See C2CD4A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2CD4A

    SOURCE GeneReport for Unigene cluster: Hs.202656

    UniProtKB/Swiss-Prot: C2C4A_HUMAN, Q8NCU7
    Tissue specificity: Specifically expressed in endothelial cells

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for C2CD4A gene from 2/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    28(a)
    1 → many
    10(5374160-5375969)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    29(a)
    1 → many
    AAWZ02041427(2107-3525)


    ENSEMBL Gene Tree for C2CD4A (if available)
    TreeFam Gene Tree for C2CD4A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C2CD4A gene
    C2CD4D2  C2CD4B2  C2CD4C2  
    1 SIMAP similar gene for C2CD4A using alignment to 2 protein entries:     C2C4A_HUMAN (see all proteins):
    C2CD4B

    C2CD4A 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

    10/108 NCBI SNPs in C2CD4A are shown (see all 108    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1469630341,2
    --62357227(+) TGGGCA/GGATCA 1 -- us2k10--------
    rs1865905861,2
    --62357311(+) TAGTCA/GGGCCT 1 -- us2k10--------
    rs1379766261,2
    --62357425(+) CTCCAC/GCCTGG 1 -- us2k10--------
    rs1909501541,2
    --62357445(+) TAAGAA/CCCTGT 1 -- us2k10--------
    rs1824231321,2
    --62357498(+) TCTCAC/TGCCTG 1 -- us2k10--------
    rs343919311,2
    C--62357618(+) ACATGA/GTNNNN 1 -- us2k14Minor allele frequency- G:0.12NA WA 242
    rs64943041,2
    C,H--62357781(+) TAACCC/GTATAG 1 -- us2k113Minor allele frequency- G:0.00NS EA NA WA CSA 434
    rs796435871,2
    F--62357926(+) CAACTT/CTCCTT 1 -- us2k11Minor allele frequency- C:0.04WA 118
    rs1879227361,2
    --62357965(+) TGTATC/TTAGCA 1 -- us2k10--------
    rs1922102681,2
    --62357986(+) TACATA/GGTGCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C2CD4A (62359176 - 62363116 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C2CD4A: --

    SABiosciences Cancer Mutation 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.)
    About This Section

    C2CD4A for disorders           About MalaCards

    C2CD4A for disorders           About GeneDecksing

    OMIM gene information: 610343    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: C2CD4A (3 documents)

    Export disorders for C2CD4A 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 C2CD4A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C2CD4A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene family induced by acute inflammation in endothelial cells. (PubMed id 15527968)1, 2 Warton K.... Stanley K.K. (2004)
    2. Genome-wide association identifies nine common variant s associated with fasting proinsulin levels and provides new insights into the p athophysiology of type 2 diabetes. (PubMed id 21873549)1 Strawbridge R.J....Florez J.C. (2011)
    3. A genome-wide association study confirms previously re ported loci for type 2 diabetes in Han Chinese. (PubMed id 21799836)1 Cui B....Ning G. (2011)
    4. A genome-wide association study in the Japanese popul ation identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C 2CD4B. (PubMed id 20818381)1 Yamauchi T....SandbA (2010)
    5. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1 Lango Allen H....Hirschhorn J.N. (2010)
    6. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (2006)
    7. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    8. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 145741 HGNC: 33627 AceView: LOC145741 Ensembl:ENSG00000198535 euGenes: HUgn145741
    ECgene: C2CD4A H-InvDB: C2CD4A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for C2CD4A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C2CD4A gene:
    Search GeneIP for patents involving C2CD4A

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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