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Aliases for CC2D1B Gene

Aliases for CC2D1B Gene

  • Coiled-Coil And C2 Domain Containing 1B 2 3 5
  • Five Prime Repressor Element Under Dual Repression-Binding Protein 2 3 4
  • FRE Under Dual Repression-Binding Protein 2 3 4
  • Freud-2 3 4
  • KIAA1836 4

External Ids for CC2D1B Gene

Previous GeneCards Identifiers for CC2D1B Gene

  • GC01M052529
  • GC01M052811
  • GC01M050932

Summaries for CC2D1B Gene

GeneCards Summary for CC2D1B Gene

CC2D1B (Coiled-Coil And C2 Domain Containing 1B) is a Protein Coding gene. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is CC2D1A.

UniProtKB/Swiss-Prot for CC2D1B Gene

  • Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CC2D1B Gene

Genomics for CC2D1B Gene

Regulatory Elements for CC2D1B Gene

Enhancers for CC2D1B 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 CC2D1B on UCSC Golden Path with GeneCards custom track

Promoters for CC2D1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CC2D1B on UCSC Golden Path with GeneCards custom track

Genomic Location for CC2D1B Gene

Chromosome:
1
Start:
52,345,723 bp from pter
End:
52,366,205 bp from pter
Size:
20,483 bases
Orientation:
Minus strand

Genomic View for CC2D1B Gene

Genes around CC2D1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CC2D1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CC2D1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CC2D1B Gene

Proteins for CC2D1B Gene

  • Protein details for CC2D1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T0F9-C2D1B_HUMAN
    Recommended name:
    Coiled-coil and C2 domain-containing protein 1B
    Protein Accession:
    Q5T0F9
    Secondary Accessions:
    • Q49AE8
    • Q5T0F8
    • Q5T0G0
    • Q6ZNQ1
    • Q96AP3
    • Q96I04
    • Q96JJ1

    Protein attributes for CC2D1B Gene

    Size:
    858 amino acids
    Molecular mass:
    94224 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC85450.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305}; Sequence=CAI12282.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CC2D1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CC2D1B Gene

Proteomics data for CC2D1B Gene at MOPED

Post-translational modifications for CC2D1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CC2D1B Gene

No data available for DME Specific Peptides for CC2D1B Gene

Domains & Families for CC2D1B Gene

Gene Families for CC2D1B Gene

Protein Domains for CC2D1B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CC2D1B Gene

Graphical View of Domain Structure for InterPro Entry

Q5T0F9

UniProtKB/Swiss-Prot:

C2D1B_HUMAN :
  • Contains 1 C2 domain.
  • Belongs to the CC2D1 family.
Domain:
  • Contains 1 C2 domain.
Family:
  • Belongs to the CC2D1 family.
genes like me logo Genes that share domains with CC2D1B: view

Function for CC2D1B Gene

Molecular function for CC2D1B Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells.

Gene Ontology (GO) - Molecular Function for CC2D1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
genes like me logo Genes that share ontologies with CC2D1B: view
genes like me logo Genes that share phenotypes with CC2D1B: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CC2D1B Gene

Localization for CC2D1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CC2D1B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CC2D1B Gene COMPARTMENTS Subcellular localization image for CC2D1B gene
Compartment Confidence
nucleus 5
cytosol 1
endosome 1
extracellular 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for CC2D1B Gene

Pathways & Interactions for CC2D1B Gene

SuperPathways for CC2D1B Gene

No Data Available

Gene Ontology (GO) - Biological Process for CC2D1B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CC2D1B Gene

Drugs & Compounds for CC2D1B Gene

No Compound Related Data Available

Transcripts for CC2D1B Gene

Unigene Clusters for CC2D1B Gene

Coiled-coil and C2 domain containing 1B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CC2D1B Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a ·
SP1: - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5: - - -
SP6: - -
SP7:
SP8: -
SP9:
SP10:

ExUns: 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c · 22d ^ 23
SP1: - -
SP2: - -
SP3: - -
SP4: - - - - -
SP5: - - -
SP6:
SP7:
SP8:
SP9: - -
SP10:

Relevant External Links for CC2D1B Gene

GeneLoc Exon Structure for
CC2D1B
ECgene alternative splicing isoforms for
CC2D1B

Expression for CC2D1B Gene

mRNA expression in normal human tissues for CC2D1B Gene

Protein differential expression in normal tissues from HIPED for CC2D1B Gene

This gene is overexpressed in Heart (23.4), Peripheral blood mononuclear cells (13.6), and Pancreas (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CC2D1B Gene



SOURCE GeneReport for Unigene cluster for CC2D1B Gene Hs.591451

mRNA Expression by UniProt/SwissProt for CC2D1B Gene

Q5T0F9-C2D1B_HUMAN
Tissue specificity: Widely distributed in brain and peripheral tissues.
genes like me logo Genes that share expression patterns with CC2D1B: view

Protein tissue co-expression partners for CC2D1B Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CC2D1B Gene

Orthologs for CC2D1B Gene

This gene was present in the common ancestor of animals.

Orthologs for CC2D1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CC2D1B 35
  • 87.41 (n)
  • 86.55 (a)
CC2D1B 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CC2D1B 35
  • 86.56 (n)
  • 84.96 (a)
CC2D1B 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cc2d1b 35
  • 84.08 (n)
  • 81.68 (a)
Cc2d1b 16
Cc2d1b 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CC2D1B 35
  • 99.69 (n)
  • 99.77 (a)
CC2D1B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cc2d1b 35
  • 84.36 (n)
  • 81.56 (a)
oppossum
(Monodelphis domestica)
Mammalia CC2D1B 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 48 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CC2D1B 35
  • 61.2 (n)
  • 59.71 (a)
CC2D1B 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CC2D1B 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cc2d1b 35
  • 59.42 (n)
  • 57.61 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68887 35
zebrafish
(Danio rerio)
Actinopterygii cc2d1b 35
  • 59.96 (n)
  • 55 (a)
wufb71c02 35
cc2d1b 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta l(2)gd1 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y37H9A.3 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
ManyToMany
-- 36
  • 39 (a)
ManyToMany
-- 36
  • 31 (a)
ManyToMany
Species with no ortholog for CC2D1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for CC2D1B Gene

ENSEMBL:
Gene Tree for CC2D1B (if available)
TreeFam:
Gene Tree for CC2D1B (if available)

Paralogs for CC2D1B Gene

Paralogs for CC2D1B Gene

(1) SIMAP similar genes for CC2D1B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CC2D1B: view

Variants for CC2D1B Gene

Sequence variations from dbSNP and Humsavar for CC2D1B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs11555349 - 52,362,712(-) GGACA(C/T)GCTGC upstream-variant-2KB, reference, missense
rs13916 -- 52,352,673(+) GTCCT(C/T)AGGGA utr-variant-3-prime
rs1062039 -- 52,352,189(+) GGGGT(A/C)TTTCT downstream-variant-500B, utr-variant-3-prime
rs2477101 -- 52,354,216(-) CACTG(C/T)AGCAC intron-variant
rs3795365 -- 52,356,078(+) CACAG(C/T)GGGGC intron-variant

Variation tolerance for CC2D1B Gene

Residual Variation Intolerance Score: 88.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.13; 75.63% 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 CC2D1B Gene

Disorders for CC2D1B Gene

Relevant External Links for CC2D1B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CC2D1B

No disorders were found for CC2D1B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CC2D1B Gene

Publications for CC2D1B Gene

  1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. (PMID: 24960163) Garg A. … Olson E.N. (J. Clin. Invest. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for CC2D1B Gene

Sources for CC2D1B Gene

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