Format

Send to:

Choose Destination
    • Showing Current items.

    HOXC4 homeobox C4 [ Homo sapiens (human) ]

    Gene ID: 3221, updated on 11-Sep-2019

    Summary

    Official Symbol
    HOXC4provided by HGNC
    Official Full Name
    homeobox C4provided by HGNC
    Primary source
    HGNC:HGNC:5126
    See related
    Ensembl:ENSG00000198353 MIM:142974
    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; cp19; HOX3E
    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, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in kidney (RPKM 4.9), ovary (RPKM 2.4) and 16 other tissues See more
    Orthologs

    Genomic context

    See HOXC4 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (54016888..54056030)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54388716..54449814)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984512 Neighboring gene VISTA enhancer hs2078 Neighboring gene homeobox C8 Neighboring gene homeobox C6 Neighboring gene homeobox C5 Neighboring gene VISTA enhancer hs1875 Neighboring gene microRNA 615 Neighboring gene uncharacterized LOC440101 Neighboring gene uncharacterized LOC100240735 Neighboring gene uncharacterized LOC100240734

    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

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    anterior/posterior pattern specification IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic skeletal system morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    skeletal system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    homeobox protein Hox-C4
    Names
    homeo box 3E
    homeobox protein CP19
    homeobox protein Hox-3E

    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.

    Genomic

    1. NG_029818.1 RefSeqGene

      Range
      5031..44173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014620.6NP_055435.2  homeobox protein Hox-C4

      See identical proteins and their annotated locations for NP_055435.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AA805317, AI200419, BC050442, CA432146, DA905719, X07495
      Consensus CDS
      CCDS8873.1
      UniProtKB/Swiss-Prot
      P09017
      UniProtKB/TrEMBL
      A0A024RB51, Q86TF7
      Related
      ENSP00000305973.4, ENST00000303406.4
      Conserved Domains (1) summary
      pfam00046
      Location:159212
      Homeobox; Homeobox domain
    2. NM_153633.3NP_705897.1  homeobox protein Hox-C4

      See identical proteins and their annotated locations for NP_705897.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC023794, BC050442
      Consensus CDS
      CCDS8873.1
      UniProtKB/Swiss-Prot
      P09017
      UniProtKB/TrEMBL
      A0A024RB51, Q86TF7
      Related
      ENSP00000399808.2, ENST00000430889.3
      Conserved Domains (1) summary
      pfam00046
      Location:159212
      Homeobox; Homeobox domain

    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.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      54016888..54056030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center