Free for academic non-profit institutions. Other users need a Commercial license

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
  • Protein CC2D2B 3
  • 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 CC2D2A.

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 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
GH10F095781 1.6 FANTOM5 Ensembl ENCODE 8.1 -122.0 -121991 8.0 HDGF PKNOX1 WRNIP1 ZFP64 SIN3A ZNF2 ZNF121 GLIS2 FOS ZNF263 ENTPD1 TCTN3 C10orf131 CC2D2B BLNK GC10M095714
GH10F095755 1.4 FANTOM5 ENCODE 9.2 -148.5 -148541 8.0 HDGF PKNOX1 ATF1 WRNIP1 SIN3A YBX1 YY1 ELK1 ZNF143 ZNF207 ENTPD1 C10orf131 CC2D2B TCTN3 ALDH18A1 GC10M095714
GH10F095766 1.4 FANTOM5 Ensembl ENCODE 9.2 -138.8 -138823 4.1 HDGF SOX13 ELF3 PKNOX1 WRNIP1 CHD4 BMI1 RELA ZNF366 CBX5 ENTPD1 TCTN3 C10orf131 CC2D2B ENTPD1-AS1 ALDH18A1 ZNF518A GC10M095714
GH10F096088 1.2 ENCODE 9.9 +182.2 182245 2.2 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 RPL13AP5 NPM1P26 RNU6-271P LCOR C10orf131 CC2D2B ENTPD1-AS1 ZNF518A GC10P096086
GH10F096242 1 Ensembl ENCODE 9.8 +335.9 335902 3.4 MXI1 WRNIP1 ZNF384 RELA POLR2A EED HNF4G ETV6 CREM CHD2 BLNK OPALIN C10orf131 CC2D2B GC10M096216 GC10M096200
- 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
ENSR00000359805 -2 1999 PKNOX1 ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 ETS1 YY1 ZNF121

Genomic Location for CC2D2B Gene

Chromosome:
10
Start:
95,907,603 bp from pter
End:
96,035,750 bp from pter
Size:
128,148 bases
Orientation:
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:
    Q6DHV5-C2D2B_HUMAN
    Recommended name:
    Protein CC2D2B
    Protein Accession:
    Q6DHV5
    Secondary Accessions:
    • A2A3E9
    • B4DYD4
    • E9PCC3
    • Q5VUS0

    Protein attributes for CC2D2B Gene

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

    Alternative splice isoforms for CC2D2B Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for CC2D2B Gene

ProtoNet:

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

miRNA for CC2D2B Gene

miRTarBase miRNAs that target CC2D2B

Inhibitory RNA Products

Flow Cytometry 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

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 CC2D2B gene
Compartment Confidence
nucleus 2
cytosol 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

None

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

Transcripts for CC2D2B Gene

mRNA/cDNA for CC2D2B Gene

(9) 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:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CC2D2B Gene

GeneLoc Exon Structure for
CC2D2B
ECgene alternative splicing isoforms for
CC2D2B

Expression for CC2D2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

CC2D2B

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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia CC2D2B 34
  • 99.75 (n)
-- 35
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CC2D2B 34
  • 89.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 13 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 15 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG43370 35
  • 6 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mks-6 35
  • 7 (a)
OneToMany
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

ENSEMBL:
Gene Tree for CC2D2B (if available)
TreeFam:
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
rs1011689 -- 96,000,719(+) TTTGT(C/G)AGTTA intron-variant, utr-variant-5-prime
rs1023331 -- 96,006,780(-) GAGGT(G/T)CTGCT intron-variant
rs10450395 -- 96,003,579(+) AGGCC(C/T)GGCTA intron-variant
rs10509696 -- 95,974,265(+) TTAGT(C/T)TATTT intron-variant
rs10509697 -- 95,975,401(+) ATGGA(C/G)GAAAC intron-variant

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

Variant ID Type Subtype PubMed ID
esv3624289 CNV loss 21293372
esv3624291 CNV loss 21293372
nsv1110852 OTHER inversion 24896259
nsv948147 CNV duplication 23825009

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)
CC2D2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CC2D2B

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: 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)
CC2D2B
Human Genome Epidemiology (HuGE) Navigator
CC2D2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CC2D2B
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 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  4. 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 4 64
  5. A genome-wide association study of alcohol dependence. (PMID: 20202923) Bierut L.J. … Rice J.P. (Proc. Natl. Acad. Sci. U.S.A. 2010) 46 64

Products for CC2D2B Gene

Sources for CC2D2B Gene

Content
Loading form....