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HOXD9 homeobox D9 [ Homo sapiens (human) ]

Gene ID: 3235, updated on 7-Dec-2018

Summary

Official Symbol
HOXD9provided by HGNC
Official Full Name
homeobox D9provided by HGNC
Primary source
HGNC:HGNC:5140
See related
Ensembl:ENSG00000128709 MIM:142982
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; HOX4C; Hox-4.3; Hox-5.2
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 exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]
Expression
Biased expression in endometrium (RPKM 16.0), kidney (RPKM 11.1) and 10 other tissues See more
Orthologs

Genomic context

See HOXD9 in Genome Data Viewer
Location:
2q31.1
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (176122685..176124917)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176987413..176989645)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene homeobox D11 Neighboring gene homeobox D10 Neighboring gene uncharacterized LOC100129455 Neighboring gene homeobox D8

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 FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-02-22)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-02-22)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
mammary gland development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
peripheral nervous system neuron development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
single fertilization IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
homeobox protein Hox-D9
Names
Hox-4.3, mouse, homolog of
homeo box D9
homeobox protein Hox-4C
homeobox protein Hox-5.2

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_009225.1 RefSeqGene

    Range
    5001..7233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014213.4NP_055028.3  homeobox protein Hox-D9

    See identical proteins and their annotated locations for NP_055028.3

    Status: REVIEWED

    Source sequence(s)
    AC009336, BC044855, BU732638, X59372
    Consensus CDS
    CCDS2267.2
    UniProtKB/Swiss-Prot
    P28356
    Related
    ENSP00000249499.6, ENST00000249499.7
    Conserved Domains (2) summary
    smart00389
    Location:285337
    HOX; Homeodomain
    pfam04617
    Location:11164
    Hox9_act; Hox9 activation region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    176122685..176124917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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