Aliases for CC2D2B Gene

Aliases for CC2D2B Gene

  • Coiled-Coil And C2 Domain Containing 2B 2 3 5
  • Protein CC2D2B 3 4
  • C10orf130 3 4
  • C10orf131 3 4
  • Chromosome 10 Open Reading Frame 130 2
  • Chromosome 10 Open Reading Frame 131 2
  • Uncharacterized Protein 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 Nephronophthisis 14 and Meckel Syndrome, Type 6. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CC2D2B Gene

Genomics for CC2D2B Gene

GeneHancer (GH) Regulatory Elements for CC2D2B Gene

Promoters and enhancers for CC2D2B 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
GH10J095906 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 500.7 -0.1 -102 2.2 ZNF217 NRF1 MYC POLR2G PHF8 SIX5 ZFX CTCF ZIC2 POLR2A CC2D2B ENTPD1 OPALIN TCTN3 piR-39870 ENSG00000270099 ENTPD1-AS1
GH10J095755 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.2 -148.5 -148541 8 RXRA ZBTB40 SIN3A USF1 SP1 EP300 POLR2A RELA MEF2C MYC ENTPD1 CC2D2B TCTN3 ALDH18A1 RF00017-754 piR-50444-049 ENTPD1-AS1
GH10J096088 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 9.9 +182.3 182281 2.2 ZBTB40 ZNF217 SIN3A TCF12 POLR2G SP1 NCOR1 GTF2E2 PHF8 JUND ENTPD1-AS1 ZNF518A TCTN3 NPM1P26 CCNJ RPL13AP5 LCOR TM9SF3 RNU6-271P CC2D2B
GH10J095766 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.2 -138.1 -138102 9 SP1 RELA TRIM22 BCL11A NR2F2 TCF12 ZNF207 ARNT MEF2B NBN ENTPD1 TCTN3 CC2D2B ENTPD1-AS1 ALDH18A1 ZNF518A RF00017-754 RF00994-148
GH10J096242 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.8 +335.9 335901 3.4 EP300 RELA MEF2C RCOR1 TRIM22 BCL11A TCF12 CREB1 CBFB POLR2A BLNK OPALIN CC2D2B piR-57845-001 lnc-BLNK-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CC2D2B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CC2D2B

Top Transcription factor binding sites by QIAGEN in the CC2D2B gene promoter:
  • AML1a
  • ARP-1
  • COUP
  • COUP-TF
  • COUP-TF1
  • Evi-1
  • GR
  • GR-alpha
  • IRF-1
  • Pax-6

Genomic Locations for CC2D2B Gene

Genomic Locations for CC2D2B Gene
chr10:95,907,603-96,035,750
(GRCh38/hg38)
Size:
128,148 bases
Orientation:
Plus strand
chr10:97,733,786-97,792,441
(GRCh37/hg19)
Size:
58,656 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:
    • A0A1B0GVB6
    • A2A3E9
    • A6NCD4
    • B1AMZ2
    • B4DG41
    • B4DYD4
    • E9PCC3
    • Q5VUS0

    Protein attributes for CC2D2B Gene

    Size:
    1058 amino acids
    Molecular mass:
    122955 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

Gene Families for CC2D2B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CC2D2B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CC2D2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59588 (B4DG41_HUMAN)
  • Protein CC2D2B (C2D2B_HUMAN)
  • cDNA FLJ41429 fis, clone BRHIP2005354, weakly similar to Coiled-coil and C2 domain-containing protein 2A (Q6ZW91_HUMAN)
genes like me logo Genes that share domains with CC2D2B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CC2D2B Gene

Function for CC2D2B Gene

Phenotypes From GWAS Catalog 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

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

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
cytosol 2
cytoskeleton 1
nucleus 1
peroxisome 0

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

PathCards logo

SuperPathways for CC2D2B Gene

No Data Available

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

5 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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
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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30
  • 99.75 (n)
-- 31
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CC2D2B 30
  • 89.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 13 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 15 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG43370 31
  • 6 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mks-6 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CC2D2B: view image

Paralogs for CC2D2B Gene

Paralogs for CC2D2B Gene

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

  • C2D2B_HUMAN
  • B7ZBR7_HUMAN
  • B7ZBX6_HUMAN
  • Q6ZW91_HUMAN
  • R4GMT8_HUMAN
  • R4GNH7_HUMAN
genes like me logo Genes that share paralogs with CC2D2B: view

Variants for CC2D2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CC2D2B Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs1336459 - p.Gln1058Leu
rs17383738 - p.Asn800Asp
rs9943393 - p.Tyr973His

Additional dbSNP identifiers (rs#s) for CC2D2B Gene

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)

Additional Variant Information 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

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CC2D2B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 41 54
  2. 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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 54
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 54

Products for CC2D2B Gene

Sources for CC2D2B Gene