HOXD11 homeobox D11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOXD11provided by HGNC
Official Full Name: homeobox D11provided by HGNC
Primary source: HGNC:HGNC:5134
See related: Ensembl:ENSG00000128713 MIM:142986; AllianceGenome:HGNC:5134
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; HOX4F
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. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]
Expression: Biased expression in endometrium (RPKM 10.2), colon (RPKM 4.5) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (176107280..176115679)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (176595402..176599952)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (176972008..176974482)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of HOXD11 promotes cartilage degradation and induces osteoarthritis development.
Title: Inhibition of HOXD11 promotes cartilage degradation and induces osteoarthritis development.
miR-138-5p-mediated HOXD11 promotes cell invasion and metastasis by activating the FN1/MMP2/MMP9 pathway and predicts poor prognosis in penile squamous cell carcinoma.
Title: miR-138-5p-mediated HOXD11 promotes cell invasion and metastasis by activating the FN1/MMP2/MMP9 pathway and predicts poor prognosis in penile squamous cell carcinoma.
Knock down of the dickkopf WNT signaling pathway inhibitor 2 (DKK2) resulted in a significant suppression of HOXD10, HOXD11 and HOXD13 while over-expression of DKK2 and stimulation with factors of the WNT signaling pathway.
Title: The posterior HOXD locus: Its contribution to phenotype and malignancy of Ewing sarcoma.
High expression of HOXD11 is associated with laryngeal squamous cell carcinoma.
Title: HOX genes: potential candidates for the progression of laryngeal squamous cell carcinoma.
POU2F1 activity regulates HOXD10 and HOXD11 gene expression in head and neck squamous cell carcinoma, promoting a proliferative and invasive phenotype.
Title: POU2F1 activity regulates HOXD10 and HOXD11 promoting a proliferative and invasive phenotype in head and neck cancer.
data show no significant difference in HOXD11, HOXD12 & HOXD13 genotype frequencies between the autism spectrum disorder & healthy controls, but one SNP in promoter region of HOXD11 was observed in only 4 patients with ASD
Title: Study of HOXD genes in autism particularly regarding the ratio of second to fourth digit length.
In human embryonic stem cell (hESCs)differentiation, a 1.8kb region between HOXD11 and HOXD12 (D11.12) that is associated with PcG proteins was discovered, it shows alteration in nuclease sensitivity as hESCs differentiate.
Title: A region of the human HOXD cluster that confers polycomb-group responsiveness.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.
Our findings do not support the hypothesis that mutations in the HOXD11 coding regions are involved in the pathogenesis of human non-syndromal congenital renal parenchymal malformations.
Title: Absence of mutations in the HOXA11 and HOXD11 genes in children with congenital renal malformations.
Observational study of gene-disease association. (HuGE Navigator)
Title: Study of HOXD genes in autism particularly regarding the ratio of second to fourth digit length.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Hoxd11 (e-PCR), detects polymorphism
- UniSTS:536668

NoName (e-PCR)
- UniSTS:482718

HOXD11_2590 (e-PCR)
- UniSTS:280764

NoName (e-PCR)
- UniSTS:481748

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
involved_in branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in dorsal/ventral pattern formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment 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

General protein information

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Preferred Names: homeobox protein Hox-D11

Names: Hox-4.6, mouse, homolog of; homeo box 4F; homeo box D11; homeobox protein Hox-4F

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.