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

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
GH10G095755 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.2 -148.5 -148541 8.0 HDGF PKNOX1 ATF1 WRNIP1 SIN3A YBX1 YY1 GATA2 ELK1 ZNF207 ENTPD1 CC2D2B TCTN3 ALDH18A1 GC10M095714
GH10G095766 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.2 -138.8 -138823 4.1 ELF3 HDGF PKNOX1 WRNIP1 BMI1 ZNF366 CBX5 ZNF143 ZNF207 RELB ENTPD1 TCTN3 CC2D2B ENTPD1-AS1 ALDH18A1 ZNF518A GC10M095714
GH10G095781 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.1 -122.7 -122685 6.6 PKNOX1 WRNIP1 ZFP64 SIN3A ZNF2 ZBTB7B ZNF121 GLIS2 FOS ZNF263 ENTPD1 TCTN3 CC2D2B BLNK GC10M095714
GH10G096242 1.3 Ensembl ENCODE dbSUPER 9.7 +335.9 335902 3.4 WRNIP1 YY1 ETV6 RELB IKZF2 CREM ZNF680 CBFB CEBPB JUNB BLNK OPALIN CC2D2B GC10M096216 GC10M096200
GH10G096088 1.2 ENCODE 9.9 +182.2 182245 2.2 CREB3L1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ZFP41 ZNF610 GLIS1 RPL13AP5 NPM1P26 RNU6-271P LCOR CC2D2B ENTPD1-AS1 ZNF518A GC10P096086
- 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 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF207 ZNF143 SP3

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:

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

Inhibitory RNA 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 3
cytosol 3

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

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:

CRISPR Products

Inhibitory RNA 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 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:

CC2D2B

SOURCE GeneReport for Unigene cluster for CC2D2B Gene:

Hs.652240
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
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
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
esv3321957 CNV insertion 20981092
esv3624289 CNV loss 21293372
esv3624291 CNV loss 21293372
nsv1110852 OTHER inversion 24896259
nsv1110852 OTHER inversion 24896259
nsv25405 CNV deletion 16902084
nsv477467 CNV novel sequence insertion 20440878
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 and GeneCards

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
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. 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. (Sci. Rep. 2015) 3 64

Products for CC2D2B Gene

Sources for CC2D2B Gene

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