HOXD8 homeobox D8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOXD8provided by HGNC
Official Full Name: homeobox D8provided by HGNC
Primary source: HGNC:HGNC:5139
See related: Ensembl:ENSG00000175879 MIM:142985; AllianceGenome:HGNC:5139
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: mouse all
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Genomic context

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 (176129705..176132695)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (176617853..176620845)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (176994433..176997423)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircTMEM59 Serves as miR-410-3p Sponge to Inhibit the Proliferation and Metastasis of Colorectal Cancer by Regulating HOXD8.
Title: CircTMEM59 Serves as miR-410-3p Sponge to Inhibit the Proliferation and Metastasis of Colorectal Cancer by Regulating HOXD8.
HOXD8 hypermethylation as a fully sensitive and specific biomarker for biliary tract cancer detectable in tissue and bile samples.
Title: HOXD8 hypermethylation as a fully sensitive and specific biomarker for biliary tract cancer detectable in tissue and bile samples.
HOXD8 inhibits the proliferation and migration of triple-negative breast cancer cells and induces apoptosis in them through regulation of AKT/mTOR pathway.
Title: HOXD8 inhibits the proliferation and migration of triple-negative breast cancer cells and induces apoptosis in them through regulation of AKT/mTOR pathway.
LINC01106 post-transcriptionally regulates ELK3 and HOXD8 to promote bladder cancer progression.
Title: LINC01106 post-transcriptionally regulates ELK3 and HOXD8 to promote bladder cancer progression.
Taken together, these results suggest that HOXD8 is potentially associated with both cisplatin resistance and metastasis in advanced ovarian cancer.
Title: Potential role of the HOXD8 transcription factor in cisplatin resistance and tumour metastasis in advanced epithelial ovarian cancer.
verified that HOXD8 was a target of miR-5692a via online prediction database and dual luciferase reporter assay
Title: MiR-5692a promotes proliferation and inhibits apoptosis by targeting HOXD8 in hepatocellular carcinoma.
Two transcription factors, HOXD8 and Lhx3, predicted to regulate the expression of lncRNAs, were also selected. Using RNA interference technology, HOXD8 and Lhx3 were found to positively regulate DIAPH2-AS1 and RP11-445K13.2 in HTR-8/SVneo cells
Title: HOXD8/DIAPH2-AS1 epigenetically regulates PAX3 and impairs HTR-8/SVneo cell function under hypoxia.
HOXD8 exerts a tumor-suppressing role in colorectal cancer as an apoptotic inducer
Title: HOXD8 exerts a tumor-suppressing role in colorectal cancer as an apoptotic inducer.
microRNA-520a-3p inhibits proliferation and cancer stem cell phenotype by targeting HOXD8 in non small cell lung cancer cells and restoration of microRNA-520a-3p might be a therapeutic strategy to reverse gefitinib resistance.
Title: microRNA-520a-3p inhibits proliferation and cancer stem cell phenotype by targeting HOXD8 in non-small cell lung cancer.
Prox1 and HoxD8 play important roles in the maturation and maintenance of lymphatic vessels.
Title: Identification of targets of Prox1 during in vitro vascular differentiation from embryonic stem cells: functional roles of HoxD8 in lymphangiogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HOXD8_4104 (e-PCR)
- UniSTS:462900

Hoxd8 (e-PCR), detects polymorphism
- UniSTS:536673

RH18089 (e-PCR)
- UniSTS:47553

SHGC-52388 (e-PCR)
- UniSTS:64729

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior/posterior axis specification, embryo	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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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)

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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)

NM_001199746.2 → NP_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:141 → 257

COG5576; Homeodomain-containing transcription factor [Transcription]

pfam00046
Location:200 → 252

Homeobox; Homeobox domain
NM_001199747.2 → NP_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:17 → 69

Homeobox; Homeobox domain
NM_019558.4 → NP_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

F8WBG7, P13378, Q5BL00, Q8IXZ1

Related

ENSP00000315949.4, ENST00000313173.6

Conserved Domains (1) summary

pfam00046
Location:201 → 253

Homeobox; Homeobox domain