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C2CD4A Gene

protein-coding   GIFtS: 42
GCID: GC15P062360

C2 Calcium-Dependent Domain Containing 4A

(Previous names: family with sequence similarity 148, member A)
(Previous symbol: FAM148A)
  Search for C2CD4A
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
C2 Calcium-Dependent Domain Containing 4A1 2     Nuclear Localized Factor 11 2
FAM148A1 2 3     Nuclear-Localized Factor 12 3
NLF12 3 5     C2 Calcium-Dependent Domain-Containing Protein 4A2
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C2CD4A Gene:
C2CD4A (C2 calcium-dependent domain containing 4A) is a protein-coding gene. An important paralog of this gene is C2CD4D.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for C2CD4A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC2CD4A promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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: C2C4A_HUMAN, Q8NCU7 (See protein sequence)
Recommended Name: C2 calcium-dependent domain-containing protein 4A  
Size: 369 amino acids; 39744 Da

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

Explore proteomics data for C2CD4A at MOPED


See C2CD4A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_997205.2  
ENSEMBL proteins: 
 ENSP00000347712  

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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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1 InterPro protein domain:
 IPR000008 C2_dom

Graphical View of Domain Structure for InterPro Entry Q8NCU7

ProtoNet protein and cluster: Q8NCU7

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


Find genes that share domains with C2CD4A           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: C2C4A_HUMAN, Q8NCU7
Function: May be involved in inflammatory process. May regulate cell architecture and adhesion
Induction: Up-regulated by pro-inflammatory cytokines

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
Find genes that share ontologies with C2CD4A           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for C2CD4A:
 Decreased viability with pacli 

Animal Models:
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hsa-let-7a-5p (MIRT052623)

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hsa-miR-579 hsa-miR-34a hsa-miR-34c-5p hsa-miR-449b hsa-miR-452* hsa-miR-449a hsa-miR-4257
SwitchGear 3'UTR luciferase reporter plasmidC2CD4A 3' UTR sequence
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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
C2C4A_HUMAN, Q8NCU7: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol2

Gene Ontology (GO): 1 cellular component term:    About this table

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

Find genes that share ontologies with C2CD4A           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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C2CD4A
Interactions:

    Search GeneGlobe Interaction Network for C2CD4A

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for C2CD4A (ENSP000003477124) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
HAX1ENSP000003290024STRING: ENSP00000329002
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 C2CD4A (C2C4A)



(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 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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hsa-miR-579 hsa-miR-34a hsa-miR-34c-5p hsa-miR-449b hsa-miR-452* hsa-miR-449a hsa-miR-4257
SwitchGear 3'UTR luciferase reporter plasmidC2CD4A 3' UTR sequence
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat C2CD4A

Additional mRNA sequence: 

AF504646.1 BX648578.1 

1 DOTS entry:

DT.97842125 

Selected AceView cDNA sequences (see all 72):

AI341395 BE218239 BM772827 CK818870 BM766044 AW593828 CK906222 BM742013 
CK906221 AI656199 BM783372 BE467405 BM829924 BM772844 AW197466 BM068855 
AI832148 AW139874 BM128587 BU948771 NM_207322 AW001393 BF224220 BX648578 

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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C2CD4A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTCATTAAAA
C2CD4A Expression
About this image

C2CD4A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C2CD4A Protein Expression

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:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2CD4A

(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 chordates.

Orthologs for C2CD4A gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia C2cd4a1 , 5 C2 calcium-dependent domain containing 4A1, 5 74.24(n)1
67.53(a)1
  9 (36.77 cM)5
2449111  NM_001163143.11  NP_001156615.11 
 678305325 
chicken
(Gallus gallus)
Aves --
Uncharacterized protein
31(a)
1 → many
10(3925576-3927300)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
29(a)
1 → many
AAWZ02041427(2107-3525)
zebrafish
(Danio rerio)
Actinopterygii C2CD4A6
C2 calcium-dependent domain containing 4A
26(a)
1 → many
25(34254387-34256363) ENSDARG00000061416


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)
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Paralogs for C2CD4A gene
C2CD4D2  C2CD4B2  C2CD4C2  
7 SIMAP similar genes for C2CD4A using alignment to 2 protein entries:     C2C4A_HUMAN (see all proteins):
C2CD4B    ZNF611    NRAMP1    X-linked retinopathy protein    FAM3A    APOPT1
TCF4

Find genes that share paralogs with C2CD4A           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 C2CD4A (see all 136)    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/GTGGCT 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
C,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
     Database of Genomic Variants (DGV) 4 variations for C2CD4A:    About this table    
Variant IDTypeSubtypePubMed ID
nsv457178CNV Loss19166990
nsv1560CNV Loss18451855
nsv471247CNV Gain18288195
nsv457176CNV Gain19166990

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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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OMIM gene information: 610343    OMIM disorders: --


Find genes that share disorders with C2CD4A           About GenesLikeMe

Genetic Association Database (GAD): C2CD4A
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)
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PubMed articles for C2CD4A gene, integrated from 10 sources (see all 13):
(articles sorted by number of sources associating them with C2CD4A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. (PubMed id 21873549)1, 4 Strawbridge R.J....Florez J.C. (Diabetes 2011)
  2. A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese. (PubMed id 21799836)1, 4 Cui B....Ning G. (PLoS ONE 2011)
  3. A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B. (PubMed id 20818381)1, 4 Yamauchi T....SandbA ( 2010)
  4. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (Nature 2010)
  5. A novel gene family induced by acute inflammation in endothelial cells. (PubMed id 15527968)1, 2 Warton K.... Stanley K.K. (Gene 2004)
  6. Genome-wide association study identifies three novel loci for type 2 diabetes. (PubMed id 23945395)1 Hara K....Kadowaki T. (Hum. Mol. Genet. 2014)
  7. NLF-1 delivers a sodium leak channel to regulate neuronal excitability and modulate rhythmic locomotion. (PubMed id 23522043)1 Xie L....Zhen M. (Neuron 2013)
  8. Identification of new genetic risk variants for type 2 diabetes. (PubMed id 20862305)4 Shu X.O....Hu F.B. (PLoS Genet. 2010)
  9. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. (PubMed id 20081858)4 Dupuis J....Barroso I. (Nat. Genet. 2010)
  10. A genome-wide association study of sporadic ALS in a homogenous Irish population. (PubMed id 18057069)4 Cronin S....Hardiman O. (Hum. Mol. Genet. 2008)

(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: 145741 HGNC: 33627 AceView: LOC145741 Ensembl:ENSG00000198535 euGenes: HUgn145741
ECgene: C2CD4A H-InvDB: C2CD4A

(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 C2CD4A 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, 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 inGenious Targeting Laboratory, 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

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