HOXD10 homeobox D10 [Homo sapiens (human)] - Gene

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: 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 (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_000002.12 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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Joint-specific regulation of homeobox D10 expression in rheumatoid arthritis fibroblast-like synoviocytes.
Title: Joint-specific regulation of homeobox D10 expression in rheumatoid arthritis fibroblast-like synoviocytes.
Circ_0077109 sponges miR-139-5p and upregulates HOXD10 in trophoblast cells as potential mechanism for preeclampsia progression.
Title: Circ_0077109 sponges miR-139-5p and upregulates HOXD10 in trophoblast cells as potential mechanism for preeclampsia progression.
Upregulation of homeobox D10 expression suppresses invasion and migration of clear cell renal cell carcinoma through targeting of E-cadherin.
Title: Upregulation of homeobox D10 expression suppresses invasion and migration of clear cell renal cell carcinoma through targeting of E-cadherin.
Circ_0000317/microRNA-520g/HOXD10 axis affects the biological characteristics of colorectal cancer.
Title: Circ_0000317/microRNA-520g/HOXD10 axis affects the biological characteristics of colorectal cancer.
Downregulation of microRNA-92b-3p suppresses proliferation, migration, and invasion of gastric cancer SGC-7901 cells by targeting Homeobox D10.
Title: Downregulation of microRNA-92b-3p suppresses proliferation, migration, and invasion of gastric cancer SGC-7901 cells by targeting Homeobox D10.
Homeobox D10, a tumor suppressor, inhibits the proliferation and migration of esophageal squamous cell carcinoma.
Title: Homeobox D10, a tumor suppressor, inhibits the proliferation and migration of esophageal squamous cell carcinoma.
The results indicated that completely different sets of transcription factors coregulate HOXA4 and HOXD10 (but not HOXA9) and their expression-correlated genes.
Title: Gene expression signatures for HOXA4, HOXA9, and HOXD10 reveal alterations in transcriptional regulatory networks in colon cancer.
MiR-10b could regulate the proliferation, colony formation, cell cycle and apoptosis of acute myeloid leukemia cells through targeting HOXD10
Title: MiR-10b regulates the proliferation and apoptosis of pediatric acute myeloid leukemia through targeting HOXD10.
HOXD10 was suppressed in colon adenocarcinoma cells, which down-regulated RHOC/AKT/MAPK pathway.
Title: Epigenetic inactivation of HOXD10 is associated with human colon cancer via inhibiting the RHOC/AKT/MAPK signaling pathway.
Results show that HOXD10 promoter is hypermethylated in papillary thyroid cancer (PTC) tissues and its mRNA expression decreased. Moreover, the hypermethylation of HOXD10 was associated with invasion of the primary tumor. Further data provide evidence that the epigenetic suppression of the HOXD10 gene may play a role in the tumorigenesis of PTC.
Title: Aberrant hypermethylation of the HOXD10 gene in papillary thyroid cancer with BRAFV600E mutation.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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

Associated conditions

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

EBI GWAS Catalog

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

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

Hoxd9 (e-PCR), detects polymorphism
- UniSTS:143400

NoName (e-PCR)
- UniSTS:481578

GDB:192883 (e-PCR)
- UniSTS:155728

Hoxd10 (e-PCR), detects polymorphism
- UniSTS:536667

NoName (e-PCR)
- UniSTS:481921

NoName (e-PCR)
- UniSTS:486644

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
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 cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
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 adult locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in forelimb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in hindlimb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in neuromuscular process	IEA Inferred from Electronic Annotation more info
involved_in peripheral nervous system neuron development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in proximal/distal pattern formation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in single fertilization	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in spinal cord motor neuron cell fate specification	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription repressor complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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)

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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.