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    HOXD4 homeobox D4 [ Homo sapiens (human) ]

    Gene ID: 3233, updated on 17-Dec-2019

    Summary

    Official Symbol
    HOXD4provided by HGNC
    Official Full Name
    homeobox D4provided by HGNC
    Primary source
    HGNC:HGNC:5138
    See related
    Ensembl:ENSG00000170166 MIM:142981
    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
    HOX4; HOX4B; HHO.C13; HOX-5.1; Hox-4.2
    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, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in endometrium (RPKM 14.5), kidney (RPKM 10.9) and 13 other tissues See more
    Orthologs

    Genomic context

    See HOXD4 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (176150394..176156078)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (177015122..177017951)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene homeobox D8 Neighboring gene HOXD cluster antisense RNA 2 Neighboring gene uncharacterized LOC401021 Neighboring gene microRNA 10b Neighboring gene homeobox D3 Neighboring gene HOXD antisense growth-associated long non-coding RNA Neighboring gene HAGLR opposite strand lncRNA

    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?

    Pathways from PubChem

    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 
    embryonic skeletal system morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    multicellular organism development NAS
    Non-traceable Author Statement
    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
    cell junction IDA
    Inferred from Direct Assay
    more info
     
    nuclear chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    homeobox protein Hox-D4
    Names
    Hox-4.2, mouse, homolog of homeo box X
    homeobox protein HHO.C13
    homeobox protein Hox-4B
    homeobox protein Hox-5.1

    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_012080.1 RefSeqGene

      Range
      5166..6842
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014621.3NP_055436.2  homeobox protein Hox-D4

      See identical proteins and their annotated locations for NP_055436.2

      Status: REVIEWED

      Source sequence(s)
      AC009336
      Consensus CDS
      CCDS2269.1
      UniProtKB/Swiss-Prot
      P09016
      Related
      ENSP00000302548.3, ENST00000306324.4
      Conserved Domains (1) summary
      pfam00046
      Location:157210
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      176150394..176156078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005246514.4XP_005246571.1  homeobox protein Hox-D4 isoform X1

      UniProtKB/TrEMBL
      A0A087WSZ3
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