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    HOXC8 homeobox C8 [ Homo sapiens (human) ]

    Gene ID: 3224, updated on 2-Nov-2024

    Summary

    Official Symbol
    HOXC8provided by HGNC
    Official Full Name
    homeobox C8provided by HGNC
    Primary source
    HGNC:HGNC:5129
    See related
    Ensembl:ENSG00000037965 MIM:142970; AllianceGenome:HGNC:5129
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HOX3; HOX3A
    Summary
    This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in fat (RPKM 3.5), adrenal (RPKM 3.0) and 9 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HOXC8 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (54008985..54012769)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53960328..53978298)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54402769..54406553)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene HOXC cluster antisense RNA 1 Neighboring gene homeobox C9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6431 Neighboring gene uncharacterized LOC124902939 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4522 Neighboring gene VISTA enhancer hs2078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6433 Neighboring gene homeobox C6 Neighboring gene homeobox C5 Neighboring gene homeobox C4 Neighboring gene Sharpr-MPRA regulatory region 5451 Neighboring gene VISTA enhancer hs1875 Neighboring gene microRNA 615

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    homeobox protein Hox-C8
    Names
    Hox-3.1, mouse, homolog of
    homeo box 3A
    homeo box C8
    homeobox protein Hox-3A

    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_022658.4NP_073149.1  homeobox protein Hox-C8

      See identical proteins and their annotated locations for NP_073149.1

      Status: REVIEWED

      Source sequence(s)
      AC012531, BC053898, BU618342
      Consensus CDS
      CCDS8870.1
      UniProtKB/Swiss-Prot
      A8K4J4, O15221, O15362, P31273
      Related
      ENSP00000040584.4, ENST00000040584.6
      Conserved Domains (1) summary
      pfam00046
      Location:153205
      Homeobox; Homeobox domain

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      54008985..54012769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53960328..53978298
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371921.1XP_054227896.1  homeobox protein Hox-C8 isoform X1

      UniProtKB/Swiss-Prot
      A8K4J4, O15221, O15362, P31273
    2. XM_054371922.1XP_054227897.1  homeobox protein Hox-C8 isoform X1

      UniProtKB/Swiss-Prot
      A8K4J4, O15221, O15362, P31273