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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. 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

Regulatory Elements for C2CD4A Gene

Enhancers for C2CD4A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H062118 1.6 FANTOM5 Ensembl ENCODE 11.1 +53.8 53782 4 ATF1 ZNF766 ELK1 ATF7 FOS DEK REST KAT8 MEF2D NFIL3 C2CD4A GC15P062091 C2CD4B
GH15H062109 1.5 FANTOM5 Ensembl ENCODE 11.1 +44.8 44798 4 HDAC1 PKNOX1 FOXA2 MLX SIN3A FEZF1 RARA RFX5 YY1 ZSCAN5C C2CD4A GC15P062091 C2CD4B
GH15H062066 1 ENCODE 11.9 +0.9 931 2 ARID4B SIN3A DMAP1 YY1 SLC30A9 GLIS2 ZNF143 ATF7 RUNX3 MXD4 C2CD4A LOC101928907 GC15M062083
GH15H062059 1.1 ENCODE 9.8 -6.6 -6606 2 PKNOX1 MLX ARID4B SIN3A DMAP1 CBX5 ZNF143 ZNF207 DEK MXD4 VPS13C C2CD4A LOC101928907 GC15P061947
GH15H062087 0.7 ENCODE 10.2 +21.0 20950 0 STAT1 PKNOX1 FOXA1 GATA3 ZNF316 MAFF POLR2A FOXP2 RCOR1 ZBTB33 C2CD4A GC15P062091 NPM1P47
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C2CD4A on UCSC Golden Path with GeneCards custom track

Promoters for C2CD4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000077562 1323 1001 TBP ARID4B SIN3A RAD21 GLIS2 ZEB2 REST NFIC KLF16 SMARCA4

Genomic Location for C2CD4A Gene

Chromosome:
15
Start:
62,066,977 bp from pter
End:
62,070,917 bp from pter
Size:
3,941 bases
Orientation:
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:
    Q8NCU7-C2C4A_HUMAN
    Recommended name:
    C2 calcium-dependent domain-containing protein 4A
    Protein Accession:
    Q8NCU7

    Protein attributes for C2CD4A Gene

    Size:
    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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2CD4A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NCU7

UniProtKB/Swiss-Prot:

C2C4A_HUMAN :
  • Belongs to the C2CD4 family.
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C2CD4A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C2CD4A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for C2CD4A Gene

GeneLoc Exon Structure for
C2CD4A
ECgene alternative splicing isoforms for
C2CD4A

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:

C2CD4A

SOURCE GeneReport for Unigene cluster for C2CD4A Gene:

Hs.202656

mRNA Expression by UniProt/SwissProt for C2CD4A Gene:

Q8NCU7-C2C4A_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia C2CD4A 33 34
  • 97.59 (n)
rat
(Rattus norvegicus)
Mammalia C2cd4a 33
  • 74.95 (n)
mouse
(Mus musculus)
Mammalia C2cd4a 33 16 34
  • 74.24 (n)
C2cd4b 34
  • 57 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 59 (a)
ManyToMany
C2CD4A 34
  • 59 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 38 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 31 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 29 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii C2CD4A 34
  • 26 (a)
OneToMany
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

ENSEMBL:
Gene Tree for C2CD4A (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1000190073 -- 62,069,466(+) TAGTT(C/G/T)CAGCT utr-variant-3-prime
rs1000619569 -- 62,070,918(+) AACAA(C/G)TTGGC splice-donor-variant
rs1002104079 -- 62,070,041(+) GAACA(G/T)GCAGT utr-variant-3-prime
rs1003698814 -- 62,067,123(+) TAATT(C/T)CCTGG intron-variant
rs1003766169 -- 62,065,113(+) AGTCG(G/T)GCCTG upstream-variant-2KB

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)

Relevant External Links for C2CD4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2CD4A

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

Disorders for C2CD4A Gene

Relevant External Links for C2CD4A

Genetic Association Database (GAD)
C2CD4A
Human Genome Epidemiology (HuGE) Navigator
C2CD4A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2CD4A

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. 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 45 60
  2. 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 45 60
  3. 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 45 60
  4. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 45 60
  5. A novel gene family induced by acute inflammation in endothelial cells. (PMID: 15527968) Warton K … Stanley KK (Gene 2004) 3 4 60

Products for C2CD4A Gene

Sources for C2CD4A Gene

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