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CCAR2 cell cycle and apoptosis regulator 2 [ Homo sapiens (human) ]

Gene ID: 57805, updated on 18-Nov-2018

Summary

Official Symbol
CCAR2provided by HGNC
Official Full Name
cell cycle and apoptosis regulator 2provided by HGNC
Primary source
HGNC:HGNC:23360
See related
Ensembl:ENSG00000158941 MIM:607359; Vega:OTTHUMG00000162249
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DBC1; DBC-1; NET35; p30DBC; p30 DBC; KIAA1967
Expression
Ubiquitous expression in testis (RPKM 30.7), brain (RPKM 20.0) and 25 other tissues See more
Orthologs

Genomic context

See CCAR2 in Genome Data Viewer
Location:
8p21.3
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (22604632..22620471)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22462145..22477984)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene PDZ and LIM domain 2 Neighboring gene proline-rich proteoglycan 2-like Neighboring gene chromosome 8 open reading frame 58 Neighboring gene bridging integrator 3 Neighboring gene BIN3 intronic transcript 1 Neighboring gene uncharacterized LOC105369180

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
NHGRI GWA Catalog
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
NHGRI GWA Catalog
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
NHGRI GWA Catalog
Risk alleles for multiple sclerosis identified by a genomewide study.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pol gag-pol HIV-1 Pol is identified to have a physical interaction with KIAA1967 in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Vif vif HIV-1 Vif interacts with CCAR2; predicted interaction to be relevant to gene regulation PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of cell cycle and apoptosis regulator 2 (CCAR2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with KIAA1967 in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Cellular response to heat stress, organism-specific biosystem (from REACTOME)
    Cellular response to heat stress, organism-specific biosystemIn response to exposure to elevated temperature and certain other proteotoxic stimuli (e.g., hypoxia, free radicals) cells activate a number of cytoprotective mechanisms known collectively as "heat s...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Regulation of HSF1-mediated heat shock response, organism-specific biosystem (from REACTOME)
    Regulation of HSF1-mediated heat shock response, organism-specific biosystemThe ability of HSF1 to respond to cellular stresses is under negative regulation by chaperones, modulation of nucleocytoplasmic shuttling, post-translational modifications and transition from monomer...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1967

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA polymerase II complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enzyme inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear receptor transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA splicing IMP
Inferred from Mutant Phenotype
more info
PubMed 
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IEA
Inferred from Electronic Annotation
more info
 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
mitochondrial fragmentation involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of catalytic activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
regulation of DNA-templated transcription, elongation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein deacetylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein stability IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
DBIRD complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DBIRD complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cell cycle and apoptosis regulator protein 2
Names
cell division cycle and apoptosis regulator protein 2
deleted in breast cancer 1
p30 DBC protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001363068.1NP_001349997.1  cell cycle and apoptosis regulator protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL137523, AL834351, BC065495, DA721640, DB240982
    Conserved Domains (2) summary
    pfam14443
    Location:343451
    DBC1; DBC1
    pfam14444
    Location:60112
    S1-like; S1-like
  2. NM_001363069.1NP_001349998.1  cell cycle and apoptosis regulator protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL137523, AL834351, BC065495, DA721640
    Conserved Domains (2) summary
    pfam14443
    Location:343451
    DBC1; DBC1
    pfam14444
    Location:60112
    S1-like; S1-like
  3. NM_021174.5NP_066997.3  cell cycle and apoptosis regulator protein 2 isoform 1

    See identical proteins and their annotated locations for NP_066997.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and encodes the longer isoform (1).
    Source sequence(s)
    AL137523, AL834351, BC065495, DA110888
    Consensus CDS
    CCDS34863.1
    UniProtKB/Swiss-Prot
    Q8N163
    Related
    ENSP00000373930.3, OTTHUMP00000225109, ENST00000389279.7, OTTHUMT00000375868
    Conserved Domains (2) summary
    pfam14443
    Location:343451
    DBC1; DBC1
    pfam14444
    Location:60112
    S1-like; S1-like

RNA

  1. NR_033902.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL137523, AL834351, BC065495, DA721640
    Related
    ENST00000520861.5, OTTHUMT00000375873

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    22604632..22620471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544603.2XP_011542905.1  cell cycle and apoptosis regulator protein 2 isoform X1

    Conserved Domains (2) summary
    pfam14443
    Location:343451
    DBC1; DBC1
    pfam14444
    Location:60112
    S1-like; S1-like
  2. XM_011544604.2XP_011542906.1  cell cycle and apoptosis regulator protein 2 isoform X2

    Conserved Domains (2) summary
    pfam14443
    Location:303411
    DBC1; DBC1
    pfam14444
    Location:60112
    S1-like; S1-like
  3. XM_017013717.2XP_016869206.1  cell cycle and apoptosis regulator protein 2 isoform X1

    Conserved Domains (2) summary
    pfam14443
    Location:343451
    DBC1; DBC1
    pfam14444
    Location:60112
    S1-like; S1-like

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_199205.1: Suppressed sequence

    Description
    NM_199205.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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