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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
  • C10orf131 3 4
  • Chromosome 10 Open Reading Frame 130 2
  • Chromosome 10 Open Reading Frame 131 2
  • Uncharacterized Protein C10orf131 3
  • Protein CC2D2B 3
  • BA248J23.4 3
  • BA690P14.3 3

External Ids for CC2D2B Gene

Previous HGNC Symbols for CC2D2B Gene

  • C10orf130
  • C10orf131

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 CC2D2A.

Additional gene information for CC2D2B 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 CC2D2B Gene

Genomics for CC2D2B Gene

Regulatory Elements for CC2D2B Gene

Enhancers for CC2D2B 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
GH10H095755 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.2 -148.5 -148541 8 HDGF PKNOX1 ATF1 SIN3A YBX1 ZNF143 ZNF207 ATF7 RUNX3 SP3 ENTPD1 CC2D2B TCTN3 ALDH18A1 GC10M095714
GH10H095766 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.2 -138.8 -138823 4.1 ELF3 HDGF PKNOX1 BMI1 BATF ZNF366 ZNF143 ZNF207 ATF7 RUNX3 ENTPD1 TCTN3 CC2D2B ENTPD1-AS1 ALDH18A1 ZNF518A GC10M095714
GH10H095781 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8.1 -122.7 -122685 6.6 PKNOX1 TBL1XR1 BMI1 BATF ATF7 ETV6 RUNX3 IKZF2 CREM SMARCA5 ENTPD1 TCTN3 CC2D2B BLNK GC10M095714
GH10H096242 1.3 Ensembl ENCODE dbSUPER 9.8 +335.9 335902 3.4 MAX EBF1 BATF RELA YY1 POLR2A EED HNF4G ATF7 ETV6 BLNK OPALIN CC2D2B GC10M096216 GC10M096200
GH10H096088 1.2 ENCODE 9.9 +182.2 182245 2.2 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 TCTN3 ZNF518A RPL13AP5 NPM1P26 CCNJ RNU6-271P LCOR TM9SF3 CC2D2B ENTPD1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CC2D2B on UCSC Golden Path with GeneCards custom track

Promoters for CC2D2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032010 -2 1999 ATF1 ARID4B SIN3A DMAP1 GLI4 ZNF2 YY1 ETS1 ZNF121 GLIS2

Genomic Locations for CC2D2B Gene

Genomic Locations for CC2D2B Gene
128,148 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:
    • A0A1B0GVB6
    • A2A3E9
    • A6NCD4
    • B1AMZ2
    • B4DG41
    • B4DYD4
    • E9PCC3
    • Q5VUS0

    Protein attributes for CC2D2B Gene

    1058 amino acids
    Molecular mass:
    122955 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CC2D2B Gene


neXtProt entry for CC2D2B Gene

Post-translational modifications for CC2D2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CC2D2B Gene

Domains & Families for CC2D2B Gene

Gene Families for CC2D2B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains 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 UniProtKB/Swiss-Prot for CC2D2B Gene

Function for CC2D2B Gene

Phenotypes From GWAS Catalog for CC2D2B Gene

Phenotypes for CC2D2B Gene

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

Animal Model Products

miRNA for CC2D2B Gene

miRTarBase miRNAs that target CC2D2B

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 CC2D2B Gene

Localization for CC2D2B Gene

Subcellular locations from

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 CC2D2B gene
Compartment Confidence
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

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

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

Unigene Clusters for CC2D2B Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CC2D2B Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of CC2D2B Gene:


SOURCE GeneReport for Unigene cluster for CC2D2B Gene:

genes like me logo Genes that share expression patterns with CC2D2B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia CC2D2B 33
  • 99.75 (n)
-- 34
  • 99 (a)
(Canis familiaris)
Mammalia CC2D2B 33
  • 89.03 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 58 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 13 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 15 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG43370 34
  • 6 (a)
(Caenorhabditis elegans)
Secernentea mks-6 34
  • 7 (a)
Species where no ortholog for CC2D2B 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)
  • 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:

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
rs1000010810 -- 96,035,581(+) ATTTC(C/T)TTTAG intron-variant, downstream-variant-500B
rs1000055699 -- 95,974,955(+) AGAAT(A/T)TACAA intron-variant
rs1000055967 -- 96,026,641(+) ACATA(C/T)GGGTA intron-variant
rs1000177449 -- 96,035,580(+) AATTT(A/C)TTTTA intron-variant, downstream-variant-500B
rs1000207715 -- 95,982,760(+) TCTTT(A/G)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CC2D2B Gene

Variant ID Type Subtype PubMed ID
nsv948147 CNV duplication 23825009
nsv477467 CNV novel sequence insertion 20440878
nsv25405 CNV deletion 16902084
nsv1110852 OTHER inversion 24896259
nsv1110852 OTHER inversion 24896259
esv3624291 CNV loss 21293372
esv3624289 CNV loss 21293372
esv3321957 CNV insertion 20981092

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)

Relevant External Links for CC2D2B Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CC2D2B Gene

Disorders for CC2D2B Gene

MalaCards: The human disease database

(2) MalaCards diseases for CC2D2B Gene - From: HGMD and 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:
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 (American journal of human genetics 2006) 3 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 60
  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 60
  5. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. (PMID: 26687479) Oliviero G … Cagney G (Scientific reports 2015) 3 60

Products for CC2D2B Gene

Sources for CC2D2B Gene

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