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Aliases for C2CD2 Gene

Aliases for C2CD2 Gene

  • C2 Calcium Dependent Domain Containing 2 2 3 5
  • Transmembrane Protein 24-Like 3 4
  • C21orf258 3 4
  • C21orf25 3 4
  • TMEM24L 3 4
  • Chromosome 21 Open Reading Frame 25 2
  • C2 Domain-Containing Protein 2 3
  • TMEM24 Related Geme 3
  • TMEM24-Like 2

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.

Additional gene information for C2CD2 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for C2CD2 Gene

Promoters and enhancers for C2CD2 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
GH21J041923 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 669.4 +25.0 24978 11.6 HDGF FOXA2 SMAD1 MLX ZFP64 DMAP1 IRF4 ZNF48 FOS ATF7 C2CD2 PRDM15 ENSG00000251778 ENSG00000227698 ENSG00000236545 UMODL1 ZNF295-AS1 ZBTB21 UMODL1-AS1 WDR4
GH21J041952 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 660.4 -0.3 -339 4.3 HDGF PKNOX1 ARNT NEUROD1 SIN3A DMAP1 ZBTB7B POLR2B ZNF207 FOS C2CD2 PRDM15 WDR4 ENSG00000233754 ZBTB21 ENSG00000231867 ZNF295-AS1 ENSG00000251778 ENSG00000227698 ENSG00000236545
GH21J041956 Enhancer 1.4 Ensembl ENCODE dbSUPER 14.5 -4.3 -4319 3.2 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A ZNF48 ETS1 TCF12 ZNF121 C2CD2 ZNF295-AS1
GH21J041864 Enhancer 1.1 ENCODE dbSUPER 16.9 +88.0 87977 2 HDGF HDAC1 PKNOX1 ATF1 STAT5A NFXL1 BATF KLF5 IRF4 ZNF143 C2CD2 PRDM15 LINC00112 LINC00479 ENSG00000236545 GC21M041838
GH21J042008 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.1 -56.2 -56166 3.2 PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZBTB21 ZNF295-AS1 PRDM15 WDR4 ENSG00000233754 ENSG00000227698 C2CD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C2CD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C2CD2 gene promoter:
  • AREB6
  • PPAR-alpha
  • GATA-3
  • GATA-2
  • GATA-1
  • NF-E2
  • NF-E2 p45
  • POU3F2 (N-Oct-5b)
  • POU3F2 (N-Oct-5a)
  • POU3F2

Genomic Locations for C2CD2 Gene

Genomic Locations for C2CD2 Gene
chr21:41,885,110-41,953,957
(GRCh38/hg38)
Size:
68,848 bases
Orientation:
Minus strand
chr21:43,305,219-43,373,999
(GRCh37/hg19)
Size:
68,781 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-C2CD2_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

Post-translational modifications for C2CD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C2CD2 Gene

Domains & Families for C2CD2 Gene

Gene Families for C2CD2 Gene

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

Protein Domains for C2CD2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for C2CD2 Gene

Function for C2CD2 Gene

Phenotypes From GWAS Catalog for C2CD2 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for C2CD2

Clone 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

Membrane; Single-pass membrane protein.

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 C2CD2 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C2CD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 16780588
GO:0005829 cytosol HDA 16780588
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C2CD2: view

Pathways & Interactions for C2CD2 Gene

SuperPathways for C2CD2 Gene

No Data Available

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for C2CD2 Gene



NURSA nuclear receptor signaling pathways regulating expression of C2CD2 Gene:

C2CD2

SOURCE GeneReport for Unigene cluster for C2CD2 Gene:

Hs.473894

Evidence on tissue expression from TISSUES for C2CD2 Gene

  • Pancreas(4.4)
  • Nervous system(4.4)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with C2CD2: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia C2CD2 34 33
  • 98.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C2CD2 34 33
  • 81.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C2CD2 34 33
  • 79.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia C2cd2 16 34 33
  • 76.6 (n)
rat
(Rattus norvegicus)
Mammalia C2cd2 33
  • 76.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C2CD2 34
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C2CD2 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2CD2 34 33
  • 63.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2CD2 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2cd2 33
  • 59.98 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101884386 33
  • 59.81 (n)
C2CD2 34
  • 42 (a)
OneToOne
Species where no ortholog for C2CD2 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for C2CD2: view image

Paralogs for C2CD2 Gene

Paralogs for C2CD2 Gene

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

  • CU025_HUMAN
  • H7BZB0_HUMAN
  • Q6P6D1_HUMAN
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 Variation AA Info Type
rs1000035183 -- 41,898,116(-) C/T intron_variant
rs1000103514 -- 41,939,572(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000146681 -- 41,934,910(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000215240 -- 41,892,929(-) C/T intron_variant
rs1000257640 -- 41,924,394(-) T/C genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv7849n54 CNV loss 21841781
dgv7850n54 CNV loss 21841781
dgv7851n54 CNV loss 21841781
dgv7852n54 CNV loss 21841781
dgv7853n54 CNV loss 21841781
dgv7854n54 CNV loss 21841781
dgv7855n54 CNV loss 21841781
dgv7856n54 CNV loss 21841781
dgv7857n54 CNV loss 21841781
dgv7858n54 CNV loss 21841781
dgv7859n54 CNV loss 21841781
esv2345767 CNV deletion 18987734
esv26328 CNV loss 19812545
esv2659365 CNV deletion 23128226
esv2677768 CNV deletion 23128226
esv2723509 CNV deletion 23290073
esv2723510 CNV deletion 23290073
esv2723511 CNV deletion 23290073
esv2723512 CNV deletion 23290073
esv2723513 CNV deletion 23290073
esv3557753 CNV deletion 23714750
esv3647072 OTHER inversion 21293372
esv3647073 CNV loss 21293372
nsv1073133 CNV deletion 25765185
nsv1118933 CNV deletion 24896259
nsv3530 CNV deletion 18451855
nsv459271 CNV loss 19166990
nsv587564 CNV loss 21841781
nsv587565 CNV loss 21841781
nsv587574 CNV loss 21841781
nsv587575 CNV loss 21841781
nsv587578 CNV loss 21841781
nsv817931 CNV loss 17921354
nsv828881 CNV gain 20364138

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)

Additional Variant Information for C2CD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2CD2

SNP Genotyping and Copy Number Assay Products

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

Disorders for C2CD2 Gene

Additional Disease Information for 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 (International journal of oncology 2004) 2 3 22 58
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 58

Products for C2CD2 Gene

Sources for C2CD2 Gene

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