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Aliases for CC2D2B Gene

Aliases for CC2D2B Gene

  • Coiled-Coil And C2 Domain Containing 2B 2 3 5
  • C10orf130 3 4
  • Chromosome 10 Open Reading Frame 130 2
  • BA248J23.4 3

External Ids for CC2D2B Gene

Previous HGNC Symbols for CC2D2B Gene

  • C10orf130

Previous GeneCards Identifiers for CC2D2B Gene

  • GC10P097725
  • GC10P097751
  • GC10P097709
  • GC10P091387
  • GC10P097735
  • GC10P095938

Summaries for CC2D2B Gene

GeneCards Summary for CC2D2B Gene

CC2D2B (Coiled-Coil And C2 Domain Containing 2B) is a Protein Coding gene. Diseases associated with CC2D2B include Meckel Syndrome 1 and Joubert Syndrome 1. An important paralog of this gene is C10orf131.

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 CC2D2B Gene

Genomics for CC2D2B Gene

Regulatory Elements for CC2D2B Gene

Enhancers for CC2D2B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CC2D2B on UCSC Golden Path with GeneCards custom track

Genomic Location for CC2D2B Gene

95,974,029 bp from pter
96,035,750 bp from pter
61,722 bases
Plus strand

Genomic View for CC2D2B Gene

Genes around CC2D2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CC2D2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CC2D2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CC2D2B Gene

Proteins for CC2D2B Gene

  • Protein details for CC2D2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein CC2D2B
    Protein Accession:
    Secondary Accessions:
    • A2A3E9
    • B4DYD4
    • E9PCC3
    • Q5VUS0

    Protein attributes for CC2D2B Gene

    322 amino acids
    Molecular mass:
    37073 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CC2D2B Gene


neXtProt entry for CC2D2B Gene

Proteomics data for CC2D2B Gene at MOPED

Post-translational modifications for CC2D2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CC2D2B Gene

No data available for DME Specific Peptides for CC2D2B Gene

Domains & Families for CC2D2B Gene

Protein Domains for CC2D2B Gene


Suggested Antigen Peptide Sequences for CC2D2B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CC2D2B: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CC2D2B Gene

Function for CC2D2B Gene

Phenotypes for CC2D2B Gene

genes like me logo Genes that share phenotypes with CC2D2B: view

Animal Model Products

CRISPR Products

miRNA for CC2D2B Gene

miRTarBase miRNAs that target CC2D2B

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 CC2D2B Gene

Localization for CC2D2B Gene

Subcellular locations from

Jensen Localization Image for CC2D2B Gene COMPARTMENTS Subcellular localization image for CC2D2B gene
Compartment Confidence
cytosol 2
nucleus 2
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CC2D2B Gene

Pathways & Interactions for CC2D2B Gene

SuperPathways for CC2D2B Gene

No Data Available

Interacting Proteins for CC2D2B Gene

Gene Ontology (GO) - Biological Process for CC2D2B Gene


No data available for Pathways by source and SIGNOR curated interactions for CC2D2B Gene

Drugs & Compounds for CC2D2B Gene

No Compound Related Data Available

Transcripts for CC2D2B Gene

mRNA/cDNA for CC2D2B Gene

(9) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CC2D2B Gene

Coiled-coil and C2 domain containing 2B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CC2D2B Gene

No ASD Table

Relevant External Links for CC2D2B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CC2D2B Gene

mRNA expression in normal human tissues for CC2D2B Gene

mRNA differential expression in normal tissues according to GTEx for CC2D2B Gene

This gene is overexpressed in Testis (x9.0).

SOURCE GeneReport for Unigene cluster for CC2D2B Gene Hs.652240

genes like me logo Genes that share expression patterns with CC2D2B: 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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CC2D2B Gene

Orthologs for CC2D2B Gene

This gene was present in the common ancestor of animals.

Orthologs for CC2D2B Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia CC2D2B 35
  • 89.03 (n)
  • 84.04 (a)
(Pan troglodytes)
Mammalia CC2D2B 35
  • 99.75 (n)
  • 99.25 (a)
-- 36
  • 99 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 13 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 15 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG43370 36
  • 6 (a)
(Caenorhabditis elegans)
Secernentea mks-6 36
  • 7 (a)
Species with no ortholog for CC2D2B:
  • 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)
  • cow (Bos Taurus)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for CC2D2B Gene

Gene Tree for CC2D2B (if available)
Gene Tree for CC2D2B (if available)

Paralogs for CC2D2B Gene

Paralogs for CC2D2B Gene

(1) SIMAP similar genes for CC2D2B Gene using alignment to 6 proteins: Pseudogenes for CC2D2B Gene

genes like me logo Genes that share paralogs with CC2D2B: view

Variants for CC2D2B Gene

Sequence variations from dbSNP and Humsavar for CC2D2B Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_050697 -
VAR_050698 -
VAR_050699 -

Variation tolerance for CC2D2B Gene

Residual Variation Intolerance Score: 80.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.94; 74.52% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for CC2D2B Gene

Disorders for CC2D2B Gene

MalaCards: The human disease database

(2) MalaCards diseases for CC2D2B Gene - From: DISEASES

Disorder Aliases PubMed IDs
meckel syndrome 1
  • meckel syndrome
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CC2D2B

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CC2D2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CC2D2B Gene

Publications for CC2D2B Gene

  1. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 48 67
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3
  5. 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

Products for CC2D2B Gene

Sources for CC2D2B Gene