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Aliases for C2CD5 Gene

Aliases for C2CD5 Gene

  • C2 Calcium Dependent Domain Containing 5 2 3 5
  • KIAA0528 2 3 4
  • 138 KDa C2 Domain-Containing Phosphoprotein 2 3
  • CDP138 3 4
  • C2 Domain-Containing Phosphoprotein Of 138 KDa 4
  • C2 Domain-Containing Protein 5 3

External Ids for C2CD5 Gene

Previous HGNC Symbols for C2CD5 Gene

  • KIAA0528

Previous GeneCards Identifiers for C2CD5 Gene

  • GC12M022602

Summaries for C2CD5 Gene

GeneCards Summary for C2CD5 Gene

C2CD5 (C2 Calcium Dependent Domain Containing 5) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Translocation of GLUT4 to the plasma membrane. GO annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding.

UniProtKB/Swiss-Prot for C2CD5 Gene

  • Required for insulin-stimulated glucose transport and glucose transporter SLC2A4/GLUT4 translocation from intracellular glucose storage vesicle (GSV) to the plasma membrane (PM) in adipocytes. Binds phospholipid membranes in a calcium-dependent manner and is necessary for the optimal membrane fusion between SLC2A4/GLUT4 GSV and the PM.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2CD5 Gene

Genomics for C2CD5 Gene

Regulatory Elements for C2CD5 Gene

Enhancers for C2CD5 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
GH12F022595 0.4 ENCODE 44.1 -53.8 -53775 5.4 SOX13 ZFP64 CEBPG ZNF644 ZNF680 HLF CEBPB ZBTB8A ZNF518A ZNF623 C2CD5 ENSG00000250166 GC12P022597
GH12F022623 0.8 ENCODE 38.3 -82.0 -81998 5.7 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 MXD4 REST TBX21 C2CD5 LOC105369691 ENSG00000274885
GH12F022542 0.2 ENCODE 17.2 +0.6 588 2.8 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 C2CD5 GC12P022524
GH12F022527 0.7 ENCODE 16.2 +16.1 16140 1.9 CTCF JUND JUN BHLHE40 MAFK RAD21 NFE2L2 C2CD5 GC12P022524
GH12F022538 0.7 Ensembl ENCODE 16.1 +5.2 5246 1.8 PKNOX1 NR2F1 CEBPB NR2F2 ZNF316 POLR2A IKZF1 CEBPA NR2F6 EMSY C2CD5 GC12P022524
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C2CD5 on UCSC Golden Path with GeneCards custom track

Promoters for C2CD5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243051 446 2201 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for C2CD5 Gene

Chromosome:
12
Start:
22,448,546 bp from pter
End:
22,544,546 bp from pter
Size:
96,001 bases
Orientation:
Minus strand

Genomic View for C2CD5 Gene

Genes around C2CD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2CD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2CD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2CD5 Gene

Proteins for C2CD5 Gene

  • Protein details for C2CD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YS7-C2CD5_HUMAN
    Recommended name:
    C2 domain-containing protein 5
    Protein Accession:
    Q86YS7
    Secondary Accessions:
    • B4DJ03
    • B4DRN7
    • B7ZLL0
    • F5H2A1
    • F5H5R1
    • O60280
    • Q17RY7
    • Q7Z619
    • Q86SU3

    Protein attributes for C2CD5 Gene

    Size:
    1000 amino acids
    Molecular mass:
    110447 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA25454.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG58665.1; Type=Frameshift; Positions=33; Evidence={ECO:0000305};

    Alternative splice isoforms for C2CD5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C2CD5 Gene

Post-translational modifications for C2CD5 Gene

  • Phosphorylated on Ser-197 by active myristoylated kinase AKT2; insulin-stimulated phosphorylation by AKT2 regulates SLC2A4/GLUT4 translocation into the plasma membrane.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C2CD5 Gene

Domains & Families for C2CD5 Gene

Gene Families for C2CD5 Gene

Protein Domains for C2CD5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD5 Gene

Graphical View of Domain Structure for InterPro Entry

Q86YS7

UniProtKB/Swiss-Prot:

C2CD5_HUMAN :
  • The C2 domain binds to calcium and membrane lipids.
Domain:
  • The C2 domain binds to calcium and membrane lipids.
  • Contains 1 C2 domain.
genes like me logo Genes that share domains with C2CD5: view

Function for C2CD5 Gene

Molecular function for C2CD5 Gene

UniProtKB/Swiss-Prot Function:
Required for insulin-stimulated glucose transport and glucose transporter SLC2A4/GLUT4 translocation from intracellular glucose storage vesicle (GSV) to the plasma membrane (PM) in adipocytes. Binds phospholipid membranes in a calcium-dependent manner and is necessary for the optimal membrane fusion between SLC2A4/GLUT4 GSV and the PM.

Gene Ontology (GO) - Molecular Function for C2CD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 21907143
GO:0005544 calcium-dependent phospholipid binding IDA 21907143
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with C2CD5: view
genes like me logo Genes that share phenotypes with C2CD5: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C2CD5 Gene

Localization for C2CD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2CD5 Gene

Cytoplasmic vesicle membrane. Cytoplasm, cell cortex. Cell membrane. Cell projection, ruffle. Note=Dynamically associated with GLUT4-containing glucose storage vesicles (GSV) and plasma membrane in response to insulin stimulation.

Gene Ontology (GO) - Cellular Components for C2CD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005815 microtubule organizing center IDA --
GO:0005886 plasma membrane IEA,IDA 21907143
GO:0005938 cell cortex IEA,IDA 21907143
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with C2CD5: view

No data available for Subcellular locations from COMPARTMENTS for C2CD5 Gene

Pathways & Interactions for C2CD5 Gene

genes like me logo Genes that share pathways with C2CD5: view

Pathways by source for C2CD5 Gene

Gene Ontology (GO) - Biological Process for C2CD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006906 vesicle fusion IEA --
GO:0010828 positive regulation of glucose transport IEA,ISS --
GO:0015031 protein transport IEA --
GO:0031340 positive regulation of vesicle fusion IMP 21907143
genes like me logo Genes that share ontologies with C2CD5: view

No data available for SIGNOR curated interactions for C2CD5 Gene

Transcripts for C2CD5 Gene

Unigene Clusters for C2CD5 Gene

C2 calcium-dependent domain containing 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2CD5 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - - - - -
SP2: - -
SP3: - -
SP4:
SP5: -
SP6: -
SP7:
SP8:

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for C2CD5 Gene

GeneLoc Exon Structure for
C2CD5
ECgene alternative splicing isoforms for
C2CD5

Expression for C2CD5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C2CD5 Gene

Protein differential expression in normal tissues from HIPED for C2CD5 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.1) and Lymph node (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C2CD5 Gene



Protein tissue co-expression partners for C2CD5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C2CD5 Gene:

C2CD5

SOURCE GeneReport for Unigene cluster for C2CD5 Gene:

Hs.271014
genes like me logo Genes that share expression patterns with C2CD5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C2CD5 Gene

Orthologs for C2CD5 Gene

This gene was present in the common ancestor of animals.

Orthologs for C2CD5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2CD5 34 35
  • 99.62 (n)
oppossum
(Monodelphis domestica)
Mammalia C2CD5 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C2CD5 34 35
  • 92.36 (n)
cow
(Bos Taurus)
Mammalia C2CD5 34 35
  • 91.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C2CD5 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C2cd5 34
  • 85.65 (n)
mouse
(Mus musculus)
Mammalia C2cd5 34 16 35
  • 85.1 (n)
chicken
(Gallus gallus)
Aves C2CD5 35
  • 81 (a)
OneToOne
KIAA0528 34
  • 80.83 (n)
lizard
(Anolis carolinensis)
Reptilia C2CD5 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2cd5 34
  • 70.65 (n)
Str.17756 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398515 34
zebrafish
(Danio rerio)
Actinopterygii C2CD5 (1 of 2) 35
  • 75 (a)
OneToMany
LOC100333813 34
  • 69.29 (n)
C2CD5 (2 of 2) 35
  • 68 (a)
OneToMany
zgc63659 34
fruit fly
(Drosophila melanogaster)
Insecta CG6454 34 35
  • 53.76 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001475 34
  • 51.26 (n)
worm
(Caenorhabditis elegans)
Secernentea F52H2.7 35
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7205 35
  • 73 (a)
OneToOne
Species where no ortholog for C2CD5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for C2CD5 Gene

ENSEMBL:
Gene Tree for C2CD5 (if available)
TreeFam:
Gene Tree for C2CD5 (if available)

Paralogs for C2CD5 Gene

(1) SIMAP similar genes for C2CD5 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with C2CD5: view

No data available for Paralogs for C2CD5 Gene

Variants for C2CD5 Gene

Sequence variations from dbSNP and Humsavar for C2CD5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1012839 -- 22,511,924(-) ATGCT(A/C)TTTTT intron-variant
rs10466795 -- 22,481,957(+) ACACA(G/T)TCTAC intron-variant
rs1046776 -- 22,449,618(-) CTTTT(G/T)GAGGC utr-variant-3-prime
rs1047359 -- 22,468,195(-) GCAAG(G/T)TTTTT intron-variant
rs10505876 -- 22,491,256(+) GCAGA(A/C)TCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C2CD5 Gene

Variant ID Type Subtype PubMed ID
esv2759883 CNV gain+loss 17122850
esv3580189 CNV loss 25503493
nsv1038357 CNV loss 25217958
nsv469166 CNV loss 19166990
nsv507632 OTHER sequence alteration 20534489
nsv557756 CNV loss 21841781

Variation tolerance for C2CD5 Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C2CD5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2CD5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2CD5 Gene

Disorders for C2CD5 Gene

Relevant External Links for C2CD5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2CD5

No disorders were found for C2CD5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2CD5 Gene

Publications for C2CD5 Gene

  1. C2 domain-containing phosphoprotein CDP138 regulates GLUT4 insertion into the plasma membrane. (PMID: 21907143) Xie X. … Jiang Z.Y. (Cell Metab. 2011) 2 3 4 64
  2. Proteomic analysis of the human cyclin-dependent kinase family reveals a novel CDK5 complex involved in cell growth and migration. (PMID: 25096995) Xu S. … Chen J. (Mol. Cell Proteomics 2014) 2 3 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. 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) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 3 4 64

Products for C2CD5 Gene

Sources for C2CD5 Gene

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