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Aliases for C2CD2 Gene

Aliases for C2CD2 Gene

  • C2 Calcium-Dependent Domain Containing 2 2 3 5
  • C21orf258 3 4
  • C21orf25 3 4
  • Chromosome 21 Open Reading Frame 25 2
  • TMEM24 Related Geme 3
  • TMEM24-Like 2
  • TMEM24L 3

External Ids for C2CD2 Gene

Previous HGNC Symbols for C2CD2 Gene

  • C21orf25

Previous GeneCards Identifiers for C2CD2 Gene

  • GC21M042179
  • GC21M043306
  • GC21M028723

Summaries for C2CD2 Gene

GeneCards Summary for C2CD2 Gene

C2CD2 (C2 Calcium-Dependent Domain Containing 2) is a Protein Coding gene. An important paralog of this gene is C2CD2L.

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 C2CD2 Gene

Genomics for C2CD2 Gene

Regulatory Elements for C2CD2 Gene

Promoters for C2CD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C2CD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for C2CD2 Gene

Chromosome:
21
Start:
41,885,110 bp from pter
End:
41,953,957 bp from pter
Size:
68,848 bases
Orientation:
Minus strand

Genomic View for C2CD2 Gene

Genes around C2CD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2CD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2CD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2CD2 Gene

Proteins for C2CD2 Gene

  • Protein details for C2CD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y426-CU025_HUMAN
    Recommended name:
    C2 domain-containing protein 2
    Protein Accession:
    Q9Y426
    Secondary Accessions:
    • Q5R2V7
    • Q6AHX8
    • Q9NSE6

    Protein attributes for C2CD2 Gene

    Size:
    696 amino acids
    Molecular mass:
    75533 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA95528.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH10536.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for C2CD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C2CD2 Gene

Proteomics data for C2CD2 Gene at MOPED

Post-translational modifications for C2CD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2CD2 Gene

No data available for DME Specific Peptides for C2CD2 Gene

Domains & Families for C2CD2 Gene

Gene Families for C2CD2 Gene

Protein Domains for C2CD2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y426

UniProtKB/Swiss-Prot:

CU025_HUMAN :
  • Contains 1 C2 domain.
Domain:
  • Contains 1 C2 domain.
genes like me logo Genes that share domains with C2CD2: view

Function for C2CD2 Gene

genes like me logo Genes that share phenotypes with C2CD2: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C2CD2 Gene

Localization for C2CD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2CD2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C2CD2 Gene COMPARTMENTS Subcellular localization image for C2CD2 gene
Compartment Confidence
cytosol 5
nucleus 5
extracellular 4
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for C2CD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005829 cytosol IDA 16780588
genes like me logo Genes that share ontologies with C2CD2: view

Pathways & Interactions for C2CD2 Gene

SuperPathways for C2CD2 Gene

No Data Available

Interacting Proteins for C2CD2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000369853%0d%0a9606.ENSP00000385269%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000369853 for C2CD2 Gene via STRING

Gene Ontology (GO) - Biological Process for C2CD2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2CD2 Gene

Drugs & Compounds for C2CD2 Gene

No Compound Related Data Available

Transcripts for C2CD2 Gene

Unigene Clusters for C2CD2 Gene

C2 calcium-dependent domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C2CD2 Gene

No ASD Table

Relevant External Links for C2CD2 Gene

GeneLoc Exon Structure for
C2CD2
ECgene alternative splicing isoforms for
C2CD2

Expression for C2CD2 Gene

mRNA expression in normal human tissues for C2CD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C2CD2 Gene

This gene is overexpressed in Adrenal Gland (x8.2).

Protein differential expression in normal tissues from HIPED for C2CD2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (14.5), Lung (14.2), Retina (10.9), and Adrenal (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for C2CD2 Gene



SOURCE GeneReport for Unigene cluster for C2CD2 Gene Hs.473894

genes like me logo Genes that share expression patterns with C2CD2: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for C2CD2 Gene

Orthologs for C2CD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2CD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C2CD2 35
  • 79.02 (n)
  • 75.4 (a)
C2CD2 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C2CD2 35
  • 81.48 (n)
  • 77.13 (a)
C2CD2 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C2cd2 35
  • 76.6 (n)
  • 72.82 (a)
C2cd2 16
C2cd2 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C2CD2 35
  • 98.85 (n)
  • 98.13 (a)
C2CD2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C2cd2 35
  • 76.21 (n)
  • 72.97 (a)
oppossum
(Monodelphis domestica)
Mammalia C2CD2 36
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2CD2 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2CD2 35
  • 63.8 (n)
  • 57.87 (a)
C2CD2 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2CD2 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2cd2 35
  • 59.98 (n)
  • 53.39 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101884386 35
  • 59.81 (n)
  • 56.45 (a)
C2CD2 36
  • 42 (a)
OneToOne
Species with no ortholog for C2CD2:
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C2CD2 Gene

ENSEMBL:
Gene Tree for C2CD2 (if available)
TreeFam:
Gene Tree for C2CD2 (if available)

Paralogs for C2CD2 Gene

Paralogs for C2CD2 Gene

(1) SIMAP similar genes for C2CD2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with C2CD2: view

Variants for C2CD2 Gene

Sequence variations from dbSNP and Humsavar for C2CD2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs2839421 - 41,918,193(+) TGAGA(A/G)CGTCA reference, missense
rs9981024 - 41,899,071(+) GGCAG(C/T)GCCCG intron-variant, reference, missense
rs3168 -- 41,885,326(+) TGCCA(C/T)TTTCT utr-variant-3-prime
rs3169 -- 41,885,354(+) GTTTC(A/G)ACATA utr-variant-3-prime
rs10368 -- 41,885,510(-) CCCGC(A/G)GAATC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for C2CD2 Gene

Variant ID Type Subtype PubMed ID
nsv913770 CNV Loss 21882294
dgv4744n71 CNV Loss 21882294
dgv4745n71 CNV Loss 21882294
nsv828881 CNV Gain 20364138
nsv459271 CNV Loss 19166990
esv2723509 CNV Deletion 23290073
esv2345767 CNV Deletion 18987734
esv2723510 CNV Deletion 23290073
nsv817931 CNV Loss 17921354
nsv3530 CNV Loss 18451855
esv2677768 CNV Deletion 23128226
esv2723511 CNV Deletion 23290073
esv26328 CNV Loss 19812545
esv2659365 CNV Deletion 23128226
esv2723512 CNV Deletion 23290073
esv2723513 CNV Deletion 23290073

Variation tolerance for C2CD2 Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C2CD2 Gene

HapMap Linkage Disequilibrium report
C2CD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2CD2 Gene

Disorders for C2CD2 Gene

Relevant External Links for C2CD2

Genetic Association Database (GAD)
C2CD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2CD2

No disorders were found for C2CD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2CD2 Gene

Publications for C2CD2 Gene

  1. Identification and characterization of TMEM24 family genes in silico. (PMID: 15289880) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 2 3 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. (PMID: 24057671) Chimusa E.R. … Hoal E.G. (Hum. Mol. Genet. 2014) 3
  4. Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. (PMID: 20494980) Warnatz H.J. … Yaspo M.L. (Nucleic Acids Res. 2010) 3
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K. … Gorospe M. (EMBO J. 2009) 3

Products for C2CD2 Gene

Sources for C2CD2 Gene

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