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Aliases for C2CD4D Gene

Aliases for C2CD4D Gene

  • C2 Calcium Dependent Domain Containing 4D 2 3 5
  • Family With Sequence Similarity 148, Member D 2 3
  • FAM148D 3 4
  • C2 Calcium-Dependent Domain-Containing Protein 4D 3

External Ids for C2CD4D Gene

Previous GeneCards Identifiers for C2CD4D Gene

  • GC01M123187

Summaries for C2CD4D Gene

GeneCards Summary for C2CD4D Gene

C2CD4D (C2 Calcium Dependent Domain Containing 4D) is a Protein Coding gene. An important paralog of this gene is C2CD4C.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2CD4D Gene

Genomics for C2CD4D Gene

Regulatory Elements for C2CD4D Gene

Enhancers for C2CD4D 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
GH01F151818 1.3 FANTOM5 Ensembl ENCODE 11.4 +24.9 24939 3.2 SUZ12 HINFP ZNF335 ZNF121 GLIS2 ZBTB48 ELK1 SCRT2 PATZ1 ZNF600 TDRKH ENSG00000203288 C2CD4D ENSG00000201134 THEM5 ENSG00000232937 MRPL9 OAZ3 RPS10P6 TUFT1
GH01F151919 1.4 FANTOM5 Ensembl ENCODE 10 -75.7 -75736 3.3 PKNOX1 TAL1 JUN ARID3A ZNF316 NCOR1 POLR2A CBX5 EED TRIM24 ENSG00000229021 THEM4 S100A10 THEM5 C2CD4D ENSG00000201134 LOC100132111 C1orf56 TMOD4 GC01M151949
GH01F151596 1.3 Ensembl ENCODE 9.7 +248.7 248748 0.9 PKNOX1 ATF1 ARNT SIN3A FEZF1 ELK1 GATA2 FOS DEK NCOA1 RPS10P6 MRPL9 TUFT1 SETDB1 RNU6-1062P ENSG00000232536 MIR554 ENSG00000227045 RIIAD1 CELF3
GH01F151867 1.1 Ensembl ENCODE 11.3 -22.8 -22754 1.4 HDGF SIN3A DMAP1 ZNF48 GTF3C2 ZNF121 FOS SP5 CEBPB ZNF592 RPS10P6 SETDB1 ENSG00000229021 MRPL9 C2CD4D LOC100132111 ENSG00000201134 LINGO4 THEM4 ENSG00000252840
GH01F151974 1.2 Ensembl ENCODE 10 -131.2 -131173 3.7 HDAC1 ARNT TBL1XR1 SREBF2 KLF17 FEZF1 ZEB1 GATA2 ZNF366 FOS THEM4 SCNM1 THEM5 LOC100132111 C2CD4D ENSG00000201134 S100A11 ENSG00000252840 CGN LOC105371441
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C2CD4D on UCSC Golden Path with GeneCards custom track

Genomic Location for C2CD4D Gene

Chromosome:
1
Start:
151,837,818 bp from pter
End:
151,845,329 bp from pter
Size:
7,512 bases
Orientation:
Minus strand

Genomic View for C2CD4D Gene

Genes around C2CD4D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2CD4D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2CD4D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2CD4D Gene

Proteins for C2CD4D Gene

  • Protein details for C2CD4D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B7Z1M9-C2D4D_HUMAN
    Recommended name:
    C2 calcium-dependent domain-containing protein 4D
    Protein Accession:
    B7Z1M9
    Secondary Accessions:
    • B2RXG8

    Protein attributes for C2CD4D Gene

    Size:
    353 amino acids
    Molecular mass:
    37583 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2CD4D Gene

Post-translational modifications for C2CD4D Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2CD4D Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C2CD4D Gene

Domains & Families for C2CD4D Gene

Gene Families for C2CD4D Gene

Protein Domains for C2CD4D Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD4D Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

B7Z1M9

UniProtKB/Swiss-Prot:

C2D4D_HUMAN :
  • Contains 1 C2 domain.
Domain:
  • Contains 1 C2 domain.
genes like me logo Genes that share domains with C2CD4D: view

Function for C2CD4D Gene

Gene Ontology (GO) - Molecular Function for C2CD4D 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 C2CD4D: view

Phenotypes for C2CD4D Gene

GenomeRNAi human phenotypes for C2CD4D:
genes like me logo Genes that share phenotypes with C2CD4D: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C2CD4D Gene

Localization for C2CD4D 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 C2CD4D gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for C2CD4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
genes like me logo Genes that share ontologies with C2CD4D: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C2CD4D Gene

Pathways & Interactions for C2CD4D Gene

SuperPathways for C2CD4D Gene

No Data Available

Interacting Proteins for C2CD4D Gene

Gene Ontology (GO) - Biological Process for C2CD4D 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 C2CD4D: view

No data available for Pathways by source and SIGNOR curated interactions for C2CD4D Gene

Transcripts for C2CD4D Gene

mRNA/cDNA for C2CD4D Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C2CD4D Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2CD4D Gene

No ASD Table

Relevant External Links for C2CD4D Gene

GeneLoc Exon Structure for
C2CD4D
ECgene alternative splicing isoforms for
C2CD4D

Expression for C2CD4D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C2CD4D Gene

mRNA differential expression in normal tissues according to GTEx for C2CD4D Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x5.8) and Skin - Not Sun Exposed (Suprapubic) (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of C2CD4D Gene:

C2CD4D

SOURCE GeneReport for Unigene cluster for C2CD4D Gene:

Hs.694717
genes like me logo Genes that share expression patterns with C2CD4D: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for C2CD4D Gene

Orthologs for C2CD4D Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2CD4D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2CD4D 34 35
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia C2CD4D 34 35
  • 84.78 (n)
mouse
(Mus musculus)
Mammalia C2cd4d 34 16 35
  • 81.23 (n)
rat
(Rattus norvegicus)
Mammalia C2cd4d 34
  • 81.23 (n)
oppossum
(Monodelphis domestica)
Mammalia C2CD4D 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2CD4D 35
  • 45 (a)
OneToOne
Species where no ortholog for C2CD4D 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)
  • chicken (Gallus gallus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for C2CD4D Gene

ENSEMBL:
Gene Tree for C2CD4D (if available)
TreeFam:
Gene Tree for C2CD4D (if available)

Paralogs for C2CD4D Gene

Paralogs for C2CD4D Gene

genes like me logo Genes that share paralogs with C2CD4D: view

Variants for C2CD4D Gene

Sequence variations from dbSNP and Humsavar for C2CD4D Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10788810 -- 151,841,315(+) TGGTG(A/G)CCTCC intron-variant, upstream-variant-2KB
rs10888439 -- 151,839,556(+) CTGCC(C/T)CGGCT intron-variant
rs111357180 -- 151,839,214(+) CAGTC(G/T)GGGGG intron-variant, utr-variant-5-prime
rs111836753 -- 151,837,860(+) CAAGC(C/T)GGGCA downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime
rs112839290 -- 151,842,538(+) CAGTG(C/G)TATGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C2CD4D Gene

Variant ID Type Subtype PubMed ID
nsv1126220 CNV deletion 24896259
nsv516369 CNV gain 19592680

Variation tolerance for C2CD4D Gene

Gene Damage Index Score: 2.57; 44.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C2CD4D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2CD4D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2CD4D Gene

Disorders for C2CD4D Gene

Relevant External Links for C2CD4D

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2CD4D

No disorders were found for C2CD4D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2CD4D Gene

Publications for C2CD4D Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for C2CD4D Gene

Sources for C2CD4D Gene

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