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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
  • Coiled-Coil And C2 Domain-Containing Protein 1B 3
  • 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. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA 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.

Additional gene information for CC2D1B Gene

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

Genomics for CC2D1B Gene

GeneHancer (GH) Regulatory Elements for CC2D1B Gene

Promoters and enhancers for CC2D1B 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
GH01I052364 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 573.7 +0.5 539 3.2 HDGF PKNOX1 CLOCK SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 CC2D1B PRPF38A ZCCHC11 MAGOH ENSG00000230953 ENSG00000266993 ORC1 LOC100190934 RPS13P2 GPX7
GH01I052550 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 21.8 -186.7 -186694 5.6 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B CBX5 ZNF207 ZCCHC11 ENSG00000272371 MAGOH ENSG00000266993 CC2D1B RPS13P2 ENSG00000230953 GPX7 C1orf123 PRPF38A
GH01I052032 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 18.8 +332.8 332809 2.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 KTI12 ENSG00000223390 ZCCHC11 ENSG00000266993 CC2D1B TXNDC12 BTF3L4 ORC1 LOC100190934
GH01I051874 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.4 +488.7 488738 5.3 CLOCK MLX DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC NRDC ENSG00000266993 ZCCHC11 PRPF38A CC2D1B ZFYVE9 LINC01562 TXNDC12 RPS13P2 KTI12
GH01I052601 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 19.6 -237.1 -237095 4.3 SOX13 PKNOX1 BACH1 ZNF644 ZNF316 POLR2A SCRT2 ATF7 PRDM10 NR2F6 GPX7 CC2D1B SHISAL2A ZCCHC11 GC01P052619
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CC2D1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CC2D1B gene promoter:

Genomic Locations for CC2D1B Gene

Genomic Locations for CC2D1B Gene
chr1:52,345,723-52,366,205
(GRCh38/hg38)
Size:
20,483 bases
Orientation:
Minus strand
chr1:52,811,395-52,831,877
(GRCh37/hg19)

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

Post-translational modifications for CC2D1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CC2D1B Gene

Domains & Families for CC2D1B Gene

Gene Families for CC2D1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • Belongs to the CC2D1 family.
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:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CC2D1B: view
genes like me logo Genes that share phenotypes with CC2D1B: view

Animal Models for CC2D1B Gene

MGI Knock Outs for CC2D1B:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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
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 CC2D1B gene
Compartment Confidence
nucleus 5
endosome 2
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CC2D1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with CC2D1B: view

Pathways & Interactions for CC2D1B Gene

SuperPathways for CC2D1B Gene

No Data Available

Gene Ontology (GO) - Biological Process for CC2D1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with CC2D1B: view

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CC2D1B Gene



Protein tissue co-expression partners for CC2D1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CC2D1B Gene:

CC2D1B

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.

Evidence on tissue expression from TISSUES for CC2D1B Gene

  • Skin(4.2)
  • Nervous system(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with CC2D1B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CC2D1B 33 34
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia CC2D1B 33 34
  • 87.41 (n)
dog
(Canis familiaris)
Mammalia CC2D1B 33 34
  • 86.56 (n)
rat
(Rattus norvegicus)
Mammalia Cc2d1b 33
  • 84.36 (n)
mouse
(Mus musculus)
Mammalia Cc2d1b 33 16 34
  • 84.08 (n)
oppossum
(Monodelphis domestica)
Mammalia CC2D1B 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 48 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CC2D1B 33 34
  • 61.2 (n)
lizard
(Anolis carolinensis)
Reptilia CC2D1B 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cc2d1b 33
  • 59.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68887 33
zebrafish
(Danio rerio)
Actinopterygii cc2d1b 33 34
  • 59.96 (n)
wufb71c02 33
fruit fly
(Drosophila melanogaster)
Insecta l(2)gd1 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y37H9A.3 34
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
Species where no ortholog for CC2D1B was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000283233 -- 52,358,521(-) C/T intron_variant
rs1000300011 -- 52,364,203(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000366058 -- 52,348,988(-) G/A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000635840 -- 52,365,770(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000659872 -- 52,353,750(-) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CC2D1B Gene

Variant ID Type Subtype PubMed ID
nsv950728 CNV deletion 24416366

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)

Additional Variant Information for CC2D1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CC2D1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CC2D1B Gene

Disorders for CC2D1B Gene

Additional Disease Information for 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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  2. Human Freud-2/CC2D1B: a novel repressor of postsynaptic serotonin-1A receptor expression. (PMID: 19423080) Hadjighassem MR … Albert PR (Biological psychiatry 2009) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. CC2D1A and CC2D1B regulate degradation and signaling of EGFR and TLR4. (PMID: 27769858) Deshar R … Yoon JB (Biochemical and biophysical research communications 2016) 3 58

Products for CC2D1B Gene

Sources for CC2D1B Gene

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