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    HOXD10 homeobox D10 [ Homo sapiens (human) ]

    Gene ID: 3236, updated on 10-Dec-2024

    Summary

    Official Symbol
    HOXD10provided by HGNC
    Official Full Name
    homeobox D10provided by HGNC
    Primary source
    HGNC:HGNC:5133
    See related
    Ensembl:ENSG00000128710 MIM:142984; AllianceGenome:HGNC:5133
    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; HOX4D; HOX4E; Hox-4.4
    Summary
    This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in endometrium (RPKM 21.4), kidney (RPKM 9.2) and 4 other tissues See more
    Orthologs
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    Genomic context

    See HOXD10 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (176116778..176119937)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (176604906..176608071)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176981506..176984665)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:176964378-176965110 Neighboring gene homeobox D12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:176968878-176969864 Neighboring gene homeobox D11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:176980400-176981072 Neighboring gene homeobox D9 Neighboring gene uncharacterized LOC100129455 Neighboring gene homeobox D8

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (37 hits/1292 screens)

    Associated conditions

    Description Tests
    Congenital vertical talus
    MedGen: C0240912 OMIM: 192950 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in adult locomotory behavior  
    involved_in anterior/posterior pattern specification  
    involved_in embryonic limb morphogenesis  
    involved_in embryonic skeletal system morphogenesis  
    involved_in forelimb morphogenesis  
    involved_in hindlimb morphogenesis  
    involved_in negative regulation of cell cycle PubMed 
    involved_in neuromuscular process  
    involved_in peripheral nervous system neuron development  
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in proximal/distal pattern formation  
    involved_in regulation of transcription by RNA polymerase II  
    involved_in single fertilization  
    involved_in skeletal muscle tissue development  
    involved_in spinal cord motor neuron cell fate specification  
    Component Evidence Code Pubs
    located_in chromatin  
    located_in cytoplasmic ribonucleoprotein granule  
    located_in cytosol  
    located_in nucleoplasm  
    is_active_in nucleus  
    part_of transcription repressor complex  

    General protein information

    Preferred Names
    homeobox protein Hox-D10
    Names
    homeo box 4D
    homeo box D10
    homeobox protein Hox-4D
    homeobox protein Hox-4E

    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.

    Genomic

    1. NG_008133.2 RefSeqGene

      Range
      10001..13179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_246

    mRNA and Protein(s)

    1. NM_002148.4 → NP_002139.2  homeobox protein Hox-D10

      See identical proteins and their annotated locations for NP_002139.2

      Status: REVIEWED

      Source sequence(s)
      AA653427, AL526269, AW243295, AW299531, BC069619, BX114645
      Consensus CDS
      CCDS2266.1
      UniProtKB/Swiss-Prot
      P28358, Q6NT10
      Related
      ENSP00000249501.4, ENST00000249501.5
      Conserved Domains (1) summary
      pfam00046
      Location:269 → 323
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      176116778..176119937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      176604906..176608071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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