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HOXD8 homeobox D8 [ Homo sapiens (human) ]

Gene ID: 3234, updated on 18-Aug-2020

Summary

Official Symbol
HOXD8provided by HGNC
Official Full Name
homeobox D8provided by HGNC
Primary source
HGNC:HGNC:5139
See related
Ensembl:ENSG00000175879 MIM:142985
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; HOX4E; HOX5.4
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 in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
Expression
Biased expression in kidney (RPKM 23.0), ovary (RPKM 9.5) and 10 other tissues See more
Orthologs

Genomic context

See HOXD8 in Genome Data Viewer
Location:
2q31.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (176129705..176132695)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176994422..176997423)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene homeobox D9 Neighboring gene uncharacterized LOC100129455 Neighboring gene HOXD cluster antisense RNA 2 Neighboring gene uncharacterized LOC401021 Neighboring gene microRNA 10b Neighboring gene homeobox D4

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

Preferred Names
homeobox protein Hox-D8
Names
Hox-4.5
homeo box 4E
homeo box D8
homeobox protein 5.4
homeobox protein Hox-4E
homeobox protein Hox-5.4

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.

mRNA and Protein(s)

  1. NM_001199746.2NP_001186675.1  homeobox protein Hox-D8 isoform 2

    See identical proteins and their annotated locations for NP_001186675.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC009336, AW140108, BC038709
    Consensus CDS
    CCDS56148.1
    UniProtKB/Swiss-Prot
    P13378
    Related
    ENSP00000409026.2, ENST00000450510.2
    Conserved Domains (2) summary
    COG5576
    Location:141257
    COG5576; Homeodomain-containing transcription factor [Transcription]
    pfam00046
    Location:200252
    Homeobox; Homeobox domain
  2. NM_001199747.2NP_001186676.1  homeobox protein Hox-D8 isoform 3

    See identical proteins and their annotated locations for NP_001186676.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC009336, AW140108, BQ429720
    Consensus CDS
    CCDS56149.1
    UniProtKB/TrEMBL
    A0A0A0MSX5
    Related
    ENSP00000406045.1, ENST00000429017.2
    Conserved Domains (1) summary
    pfam00046
    Location:1769
    Homeobox; Homeobox domain
  3. NM_019558.4NP_062458.1  homeobox protein Hox-D8 isoform 1

    See identical proteins and their annotated locations for NP_062458.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC009336, AW140108
    Consensus CDS
    CCDS2268.1
    UniProtKB/Swiss-Prot
    P13378
    Related
    ENSP00000315949.4, ENST00000313173.6
    Conserved Domains (1) summary
    pfam00046
    Location:201253
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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
    176129705..176132695
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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