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Aliases for C2CD4A Gene

Aliases for C2CD4A Gene

  • C2 Calcium Dependent Domain Containing 4A 2 3 5
  • Family With Sequence Similarity 148, Member A 2 3
  • Nuclear Localized Factor 1 2 3
  • FAM148A 3 4
  • NLF1 3 4
  • C2 Calcium-Dependent Domain-Containing Protein 4A 3
  • Nuclear-Localized Factor 1 4
  • Protein FAM148A 4

External Ids for C2CD4A Gene

Previous HGNC Symbols for C2CD4A Gene

  • FAM148A

Previous GeneCards Identifiers for C2CD4A Gene

  • GC15P060148
  • GC15P062360
  • GC15P039181

Summaries for C2CD4A Gene

GeneCards Summary for C2CD4A Gene

C2CD4A (C2 Calcium Dependent Domain Containing 4A) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is C2CD4B.

UniProtKB/Swiss-Prot for C2CD4A Gene

  • May be involved in inflammatory process. May regulate cell architecture and adhesion.

Additional gene information for C2CD4A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2CD4A Gene

Genomics for C2CD4A Gene

GeneHancer (GH) Regulatory Elements for C2CD4A Gene

Promoters and enhancers for C2CD4A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I062066 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 561.9 +0.9 930 2.4 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 GLIS2 ZNF143 ATF7 RUNX3 C2CD4A LOC101928907 GC15M062083
GH15I062059 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.8 -6.7 -6689 2.6 PKNOX1 MLX ARID4B SIN3A DMAP1 POLR2B CBX5 ZNF207 ZNF143 DEK VPS13C LOC101928907 C2CD4A GC15P061947
GH15I062118 Enhancer 1.4 FANTOM5 Ensembl ENCODE 11.1 +53.8 53781 4.8 ATF1 ETS1 ZNF766 ATF7 FOS DEK REST KAT8 MEF2D NFIL3 C2CD4A GC15P062091 C2CD4B
GH15I062109 Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.1 +44.8 44797 4.1 HDAC1 PKNOX1 FOXA2 MLX SIN3A FEZF1 RARA RFX5 YY1 ZSCAN5C C2CD4A GC15P062091 C2CD4B
GH15I061856 Enhancer 0.7 Ensembl ENCODE 9.1 -209.4 -209386 1.2 DACH1 JUNB ATF7 ETV6 GC15P061856 C2CD4A LOC101928907 LOC105370848 GC15P061914 VPS13C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C2CD4A on UCSC Golden Path with GeneCards custom track

Genomic Locations for C2CD4A Gene

Genomic Locations for C2CD4A Gene
3,941 bases
Plus strand

Genomic View for C2CD4A Gene

Genes around C2CD4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2CD4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2CD4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2CD4A Gene

Proteins for C2CD4A Gene

  • Protein details for C2CD4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    C2 calcium-dependent domain-containing protein 4A
    Protein Accession:

    Protein attributes for C2CD4A Gene

    369 amino acids
    Molecular mass:
    39744 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2CD4A Gene

Post-translational modifications for C2CD4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2CD4A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C2CD4A Gene

Domains & Families for C2CD4A Gene

Gene Families for C2CD4A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2CD4A Gene


Suggested Antigen Peptide Sequences for C2CD4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the C2CD4 family.
  • Belongs to the C2CD4 family.
genes like me logo Genes that share domains with C2CD4A: view

Function for C2CD4A Gene

Molecular function for C2CD4A Gene

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

Phenotypes From GWAS Catalog for C2CD4A Gene

Gene Ontology (GO) - Molecular Function for C2CD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA --
GO:0005544 calcium-dependent phospholipid binding IBA --
GO:0019905 NOT syntaxin binding IBA --
GO:0030276 NOT clathrin binding IBA --
genes like me logo Genes that share ontologies with C2CD4A: view

Phenotypes for C2CD4A Gene

genes like me logo Genes that share phenotypes with C2CD4A: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C2CD4A Gene

Localization for C2CD4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2CD4A Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C2CD4A gene
Compartment Confidence
nucleus 4
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for C2CD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005886 plasma membrane IBA --
genes like me logo Genes that share ontologies with C2CD4A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C2CD4A Gene

Pathways & Interactions for C2CD4A Gene

SuperPathways for C2CD4A Gene

No Data Available

Interacting Proteins for C2CD4A Gene

Gene Ontology (GO) - Biological Process for C2CD4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006906 NOT vesicle fusion IBA --
GO:0017158 NOT regulation of calcium ion-dependent exocytosis IBA --
GO:0048791 NOT calcium ion-regulated exocytosis of neurotransmitter IBA --
genes like me logo Genes that share ontologies with C2CD4A: view

No data available for Pathways by source and SIGNOR curated interactions for C2CD4A Gene

Drugs & Compounds for C2CD4A Gene

No Compound Related Data Available

Transcripts for C2CD4A Gene

mRNA/cDNA for C2CD4A Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(72) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C2CD4A Gene

C2 calcium-dependent domain containing 4A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2CD4A Gene

No ASD Table

Relevant External Links for C2CD4A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C2CD4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2CD4A Gene

mRNA differential expression in normal tissues according to GTEx for C2CD4A Gene

This gene is overexpressed in Pituitary (x20.1), Liver (x8.1), Pancreas (x4.7), and Kidney - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for C2CD4A Gene

This gene is overexpressed in CD8 Tcells (37.1) and Liver, secretome (31.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C2CD4A Gene

Protein tissue co-expression partners for C2CD4A Gene

NURSA nuclear receptor signaling pathways regulating expression of C2CD4A Gene:


SOURCE GeneReport for Unigene cluster for C2CD4A Gene:


mRNA Expression by UniProt/SwissProt for C2CD4A Gene:

Tissue specificity: Specifically expressed in endothelial cells.

Evidence on tissue expression from TISSUES for C2CD4A Gene

  • Intestine(4.1)
  • Pancreas(2.5)
genes like me logo Genes that share expression patterns with C2CD4A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2CD4A Gene

Orthologs for C2CD4A Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2CD4A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C2CD4A 33 34
  • 97.59 (n)
(Rattus norvegicus)
Mammalia C2cd4a 33
  • 74.95 (n)
(Mus musculus)
Mammalia C2cd4a 33 16 34
  • 74.24 (n)
C2cd4b 34
  • 57 (a)
(Bos Taurus)
Mammalia -- 34
  • 59 (a)
C2CD4A 34
  • 59 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 38 (a)
(Gallus gallus)
Aves -- 34
  • 31 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 29 (a)
(Danio rerio)
Actinopterygii C2CD4A 34
  • 26 (a)
Species where no ortholog for C2CD4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C2CD4A Gene

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

Paralogs for C2CD4A Gene

Paralogs for C2CD4A Gene

(7) SIMAP similar genes for C2CD4A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with C2CD4A: view

Variants for C2CD4A Gene

Sequence variations from dbSNP and Humsavar for C2CD4A Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000190073 -- 62,069,466(+) C/G/T 3_prime_UTR_variant
rs1000619569 -- 62,070,918(+) C/G downstream_transcript_variant
rs1002104079 -- 62,070,041(+) G/T 3_prime_UTR_variant
rs1003698814 -- 62,067,123(+) C/T intron_variant
rs1003766169 -- 62,065,113(+) G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C2CD4A Gene

Variant ID Type Subtype PubMed ID
dgv4563n54 CNV gain 21841781
nsv1560 CNV deletion 18451855
nsv457176 CNV gain 19166990
nsv457178 CNV loss 19166990
nsv471247 CNV gain 18288195
nsv569652 CNV loss 21841781

Variation tolerance for C2CD4A Gene

Gene Damage Index Score: 2.99; 49.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2CD4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2CD4A Gene

Disorders for C2CD4A Gene

Additional Disease Information for C2CD4A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for C2CD4A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2CD4A Gene

Publications for C2CD4A Gene

  1. A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese. (PMID: 21799836) Cui B … Ning G (PloS one 2011) 3 44 58
  2. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. (PMID: 21873549) Strawbridge RJ … Florez JC (Diabetes 2011) 3 44 58
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 44 58
  4. A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B. (PMID: 20818381) Yamauchi T … Kadowaki T (Nature genetics 2010) 3 44 58
  5. A novel gene family induced by acute inflammation in endothelial cells. (PMID: 15527968) Warton K … Stanley KK (Gene 2004) 3 4 58

Products for C2CD4A Gene

Sources for C2CD4A Gene

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