C2CD5 Gene (Protein Coding)

C2 Calcium Dependent Domain Containing 5

GC12M022448
GIFtS:
35
See more...

Aliases for C2CD5 Gene

Aliases for C2CD5 Gene

  • C2 Calcium Dependent Domain Containing 5 2 3 5
  • KIAA0528 2 3 4
  • CDP138 2 3 4
  • 138 KDa C2 Domain-Containing Phosphoprotein 2 3
  • C2 Domain-Containing Protein 5 3 4
  • C2 Domain-Containing Phosphoprotein Of 138 KDa 4
  • C2CD5 5

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. Diseases associated with C2CD5 include Lamb-Shaffer Syndrome and Koolen-De Vries Syndrome. Among its related pathways are Vesicle-mediated transport and Translocation of GLUT4 to the plasma membrane. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for C2CD5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C2CD5 Gene

Genomics for C2CD5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for C2CD5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J022542 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 267.1 +0.6 567 2.8 CHD2 TBP ZBTB10 SP1 MXD4 CEBPA NR2C1 MNT ETS1 IRF2 C2CD5 lnc-ST8SIA1-8 ENSG00000250166 lnc-ETNK1-11 ST8SIA1
GH12J022545 Enhancer 0.3 ENCODE 250.7 -0.9 -947 0.1 POLR2A ZNF121 C2CD5 lnc-ST8SIA1-8 lnc-ETNK1-10 ETNK1 ENSG00000250166
GH12J022623 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 38.3 -82.1 -82113 5.9 TBP ZBTB10 SP1 MXD4 CEBPA MNT IKZF1 SMAD5 MBD2 POLR2A ENSG00000257023 ETNK1 LOC105369691 C2CD5 lnc-CMAS-4
GH12J022595 Enhancer 0.8 Ensembl ENCODE 26.9 -53.8 -53775 5.4 CEBPA FOXA2 RXRA JUND HNF4A CEBPG SP1 ARID3A HNF1A ZNF644 LOC112268094 C2CD5 ENSG00000256774 lnc-ETNK1-7 ENSG00000257023 ETNK1 LOC105369691 ENSG00000250166
GH12J022518 Enhancer 0.8 Ensembl ENCODE 26 +26.1 26145 0.8 FEZF1 CEBPB MAX PRDM6 USF2 HNF4A PRDM4 ZNF366 ZXDB ZNF629 lnc-ETNK1-11 C2CD5 lnc-ST8SIA1-8 ST8SIA1 ENSG00000250166
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C2CD5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C2CD5

Genomic Locations for C2CD5 Gene

Latest Assembly
chr12:22,448,577-22,544,546
(GRCh38/hg38)
Size:
95,970 bases
Orientation:
Minus strand

Previous Assembly
chr12:22,601,517-22,697,476
(GRCh37/hg19 by Entrez Gene)
Size:
95,960 bases
Orientation:
Minus strand

chr12:22,601,517-22,697,480
(GRCh37/hg19 by Ensembl)
Size:
95,964 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 Structure • Gene Density

RefSeq DNA sequence for C2CD5 Gene

Proteins for C2CD5 Gene

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  • 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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG58665.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for C2CD5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C2CD5 Gene

Protein Expression for C2CD5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Other Protein References for C2CD5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for C2CD5

No data available for DME Specific Peptides for C2CD5 Gene

Domains & Families for C2CD5 Gene

Gene Families for C2CD5 Gene

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

Protein Domains for C2CD5 Gene

InterPro:
Blocks:
  • C2 domain
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54447 (B4DRN7_HUMAN)
  • KIAA0528 protein (B7ZLK1_HUMAN)
  • KIAA0528 protein (B7ZLK2_HUMAN)
  • KIAA0528 protein (B7ZLL0_HUMAN)

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.
genes like me logo Genes that share domains with C2CD5: view

Function for C2CD5 Gene

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  6. Cell Lines for research

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.

Phenotypes From GWAS Catalog for C2CD5 Gene

Gene Ontology (GO) - Molecular Function for C2CD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA,IDA 21907143
GO:0005515 protein binding IPI --
GO:0005544 calcium-dependent phospholipid binding IEA,IDA 21907143
GO:0008289 lipid binding IEA --
GO:0046872 metal ion 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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2CD5

Clone products for research

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.

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 C2CD5 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Centriolar satellite (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C2CD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IBA,IDA 21907143
GO:0005938 cell cortex IEA,IDA 21907143
genes like me logo Genes that share ontologies with C2CD5: view

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:0010828 positive regulation of glucose transmembrane transport IBA,ISS --
GO:0015031 protein transport IEA --
GO:0031340 positive regulation of vesicle fusion IBA,IMP 21907143
GO:0032869 cellular response to insulin stimulus IDA 21907143
GO:0038028 insulin receptor signaling pathway via phosphatidylinositol 3-kinase ISS --
genes like me logo Genes that share ontologies with C2CD5: view

No data available for SIGNOR curated interactions for C2CD5 Gene

Drugs & Compounds for C2CD5 Gene

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No Compound Related Data Available

Transcripts for C2CD5 Gene

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mRNA/cDNA for C2CD5 Gene

18 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2CD5

Clone products for research

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

Expression for C2CD5 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for C2CD5 Gene
mRNA expression by BioGPS for C2CD5 GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C2CD5

SOURCE GeneReport for Unigene cluster for C2CD5 Gene:

Hs.271014

Evidence on tissue expression from TISSUES for C2CD5 Gene

  • Nervous system(4.4)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with C2CD5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.62 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia C2CD5 31
  • 94 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia C2CD5 30 31
  • 92.36 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia C2CD5 30 31
  • 91.11 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia C2CD5 31
  • 91 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia C2cd5 30
  • 85.65 (n)
Mouse
(Mus musculus)
 Mammalia C2cd5 30 17 31
  • 85.1 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves C2CD5 31
  • 81 (a)
 OneToOne
KIAA0528 30
  • 80.83 (n)
Lizard
(Anolis carolinensis)
 Reptilia C2CD5 31
  • 84 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia c2cd5 30
  • 70.65 (n)
Str.17756 30
African clawed frog
(Xenopus laevis)
 Amphibia LOC398515 30
Zebrafish
(Danio rerio)
 Actinopterygii C2CD5 (1 of 2) 31
  • 75 (a)
 OneToMany
LOC100333813 30
  • 69.29 (n)
C2CD5 (2 of 2) 31
  • 68 (a)
 OneToMany
zgc63659 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG6454 30 31
  • 53.76 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001475 30
  • 51.26 (n)
Worm
(Caenorhabditis elegans)
 Secernentea F52H2.7 31
  • 26 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.7205 31
  • 73 (a)
 OneToOne
Species where no ortholog for C2CD5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for C2CD5: view image

Paralogs for C2CD5 Gene

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

  • C2CD5_HUMAN
  • B4DRN7_HUMAN
  • F5H2A1_HUMAN
  • F5H3N1_HUMAN
  • F5H5R1_HUMAN
  • H0YFC4_HUMAN
  • H0YFE9_HUMAN
  • H0YGJ3_HUMAN
  • H0YGU7_HUMAN
genes like me logo Genes that share paralogs with C2CD5: view

No data available for Paralogs for C2CD5 Gene

Variants for C2CD5 Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C2CD5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for C2CD5 Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C2CD5 Gene

Disorders for C2CD5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C2CD5 Gene - From: CVR and COP

Disorder Aliases PubMed IDs
lamb-shaffer syndrome
  • lamshf
koolen-de vries syndrome
  • kdvs
- elite association - COSMIC cancer census association via MalaCards
Search C2CD5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for C2CD5

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C2CD5: view

No data available for 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 ZY (Cell metabolism 2011) 2 3 4
  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 (Molecular & cellular proteomics : MCP 2014) 2 3
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  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 research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4

ExternalLinks

View latest publications for C2CD5 gene in Mastermind

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