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HOXD4 homeobox D4 [ Homo sapiens (human) ]

Gene ID: 3233, updated on 13-Mar-2020

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
109.20200228 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.

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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