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    CBX6 chromobox 6 [ Homo sapiens (human) ]

    Gene ID: 23466, updated on 4-Jul-2021

    Summary

    Official Symbol
    CBX6provided by HGNC
    Official Full Name
    chromobox 6provided by HGNC
    Primary source
    HGNC:HGNC:1556
    See related
    Ensembl:ENSG00000183741 MIM:617438
    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
    Expression
    Ubiquitous expression in brain (RPKM 28.2), ovary (RPKM 14.0) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CBX6 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (38861422..38872216, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39257427..39268221, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene dynein axonemal light chain 4 Neighboring gene neuronal pentraxin receptor Neighboring gene uncharacterized LOC105373032 Neighboring gene apolipoprotein B mRNA editing enzyme catalytic subunit 3A

    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

    Associated conditions

    Description Tests
    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
    GeneReviews: Not available
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of PcG protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    chromobox protein homolog 6
    Names
    chromobox homolog 6

    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_001303494.2NP_001290423.1  chromobox protein homolog 6 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL008583, BC064900, HY151719
      Consensus CDS
      CCDS77675.1
      UniProtKB/Swiss-Prot
      O95503
      UniProtKB/TrEMBL
      B0QXZ6
      Related
      ENSP00000216083.6, ENST00000216083.6
      Conserved Domains (3) summary
      smart00298
      Location:1062
      CHROMO; Chromatin organization modifier domain
      pfam17218
      Location:339370
      CBX7_C; CBX family C-terminal motif
      cl26386
      Location:219313
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    2. NM_014292.5NP_055107.3  chromobox protein homolog 6 isoform 1

      See identical proteins and their annotated locations for NP_055107.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL008583, BC064900, CD625491
      Consensus CDS
      CCDS13980.1
      UniProtKB/Swiss-Prot
      O95503
      Related
      ENSP00000384490.3, ENST00000407418.8
      Conserved Domains (3) summary
      smart00298
      Location:1062
      CHROMO; Chromatin organization modifier domain
      pfam17218
      Location:357388
      CBX7_C; CBX family C-terminal motif
      cl26386
      Location:237331
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      38861422..38872216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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