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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
  • Nuclear-Localized Factor 1 3 4
  • FAM148A 3 4
  • NLF1 3 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 C2CD4C.

UniProtKB/Swiss-Prot for C2CD4A Gene

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

No data available for Entrez Gene 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

Promoters for C2CD4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C2CD4A on UCSC Golden Path with GeneCards custom track

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

Proteomics data for C2CD4A Gene at MOPED

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

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 :
  • Contains 1 C2 domain.
  • Belongs to the C2CD4 family.
Domain:
  • Contains 1 C2 domain.
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.

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 --
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

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
Jensen Localization Image for C2CD4A Gene COMPARTMENTS Subcellular localization image for C2CD4A gene
Compartment Confidence
nucleus 4
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components 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

None

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:

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 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



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.
genes like me logo Genes that share expression patterns with C2CD4A: view

Protein tissue co-expression partners for C2CD4A Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
mouse
(Mus musculus)
Mammalia C2cd4a 35
  • 74.24 (n)
  • 67.53 (a)
C2cd4a 16
C2cd4a 36
  • 59 (a)
ManyToMany
C2cd4b 36
  • 57 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia C2CD4A 35
  • 97.59 (n)
  • 96.67 (a)
C2CD4A 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C2cd4a 35
  • 74.95 (n)
  • 67.52 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 59 (a)
ManyToMany
C2CD4A 36
  • 59 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 38 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 36
  • 31 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 29 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii C2CD4A 36
  • 26 (a)
OneToMany
Species with no ortholog for C2CD4A:
  • 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
rs1436961 -- 62,069,851(-) GGAAT(A/G)CAAGT utr-variant-3-prime
rs1436966 -- 62,066,483(-) TTTCA(C/T)GTCTT upstream-variant-2KB
rs1534542 -- 62,070,640(+) TGACC(A/G)TTGAA utr-variant-3-prime
rs4775456 -- 62,069,996(+) GAAAT(A/G)GGTGC utr-variant-3-prime
rs6494304 -- 62,065,582(+) taacc(C/G)tatag upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv457176 CNV Gain 19166990
nsv471247 CNV Gain 18288195
nsv457178 CNV Loss 19166990
nsv1560 CNV Loss 18451855

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

HapMap Linkage Disequilibrium report
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 R.J. … Florez J.C. (Diabetes 2011) 3 48 67
  2. Genome-wide association study identifies three novel loci for type 2 diabetes. (PMID: 23945395) Hara K. … Kadowaki T. (Hum. Mol. Genet. 2014) 3
  3. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. (PMID: 24509480) . … Morris A.P. (Nat. Genet. 2014) 3
  4. NLF-1 delivers a sodium leak channel to regulate neuronal excitability and modulate rhythmic locomotion. (PMID: 23522043) Xie L. … Zhen M. (Neuron 2013) 3
  5. 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

Products for C2CD4A Gene

Sources for C2CD4A Gene

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