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

    Gene ID: 57805, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:23360
    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
    Summary
    Enables RNA polymerase II complex binding activity and enzyme inhibitor activity. Involved in several processes, including regulation of DNA-templated transcription; regulation of protein metabolic process; and regulation of signal transduction. Located in several cellular components, including mitochondrial matrix; nucleoplasm; and spindle. Part of DBIRD complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 30.7), brain (RPKM 20.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCAR2 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22604757..22621514)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22878640..22895418)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22462270..22479027)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22435755-22436448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22439222-22439914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22442189-22442858 Neighboring gene PDZ and LIM domain 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22447071-22448071 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22454615-22455362 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22455363-22456110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22458799-22459676 Neighboring gene uncharacterized LOC107986876 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22462104-22462604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27082 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19003 Neighboring gene chromosome 8 open reading frame 58 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22483969-22484602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22485870-22486503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22486504-22487136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22488646-22489180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22489181-22489715 Neighboring gene bridging integrator 3 Neighboring gene BIN3 intronic transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22515470-22516064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22516065-22516659 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22526357-22526986 Neighboring gene CRISPRi-validated cis-regulatory element chr8.740 Neighboring gene uncharacterized LOC107986924 Neighboring gene early growth response 3

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1967

    Gene Ontology Provided by GOA

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001363068.2NP_001349997.1  cell cycle and apoptosis regulator protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC037459, AL137523, AL834351, BC065495, DA721640, DB240982
      UniProtKB/TrEMBL
      B3KTJ9
      Conserved Domains (2) summary
      pfam14443
      Location:343451
      DBC1; DBC1
      pfam14444
      Location:60112
      S1-like; S1-like
    2. NM_001363069.2NP_001349998.1  cell cycle and apoptosis regulator protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC037459, AL137523, AL834351, BC065495, DA721640
      UniProtKB/TrEMBL
      B3KTJ9
      Conserved Domains (2) summary
      pfam14443
      Location:343451
      DBC1; DBC1
      pfam14444
      Location:60112
      S1-like; S1-like
    3. NM_001393997.1NP_001380926.1  cell cycle and apoptosis regulator protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC037459
      Consensus CDS
      CCDS34863.1
      UniProtKB/Swiss-Prot
      A6NL03, B2RB79, D3DSR6, Q6P0Q9, Q8N163, Q8N3G7, Q8N8M1, Q8TF34, Q9H9Q9, Q9HD12, Q9NT55
      UniProtKB/TrEMBL
      B3KTJ9
      Related
      ENSP00000310670.4, ENST00000308511.9
      Conserved Domains (2) summary
      pfam14443
      Location:340457
      DBC1
      pfam14444
      Location:55112
      S1-like
    4. NM_021174.6NP_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)
      AC037459, AL137523, AL834351, BC065495, DA110888
      Consensus CDS
      CCDS34863.1
      UniProtKB/Swiss-Prot
      A6NL03, B2RB79, D3DSR6, Q6P0Q9, Q8N163, Q8N3G7, Q8N8M1, Q8TF34, Q9H9Q9, Q9HD12, Q9NT55
      UniProtKB/TrEMBL
      B3KTJ9
      Related
      ENSP00000373930.3, ENST00000389279.7
      Conserved Domains (2) summary
      pfam14443
      Location:340457
      DBC1
      pfam14444
      Location:55112
      S1-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      22604757..22621514
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544604.3XP_011542906.1  cell cycle and apoptosis regulator protein 2 isoform X1

      UniProtKB/TrEMBL
      B3KTJ9
      Conserved Domains (2) summary
      pfam14443
      Location:303411
      DBC1; DBC1
      pfam14444
      Location:60112
      S1-like; S1-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      22878640..22895418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360945.1XP_054216920.1  cell cycle and apoptosis regulator protein 2 isoform X1

      UniProtKB/TrEMBL
      B3KTJ9

    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.