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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HOXD8
homeobox D8
Chromosome 2 · 2q31.1
NCBI Gene: 3234Ensembl: ENSG00000175879.9HGNC: HGNC:5139UniProt: A0A0A0MSX5
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIDNA-binding transcription activator activity, RNA polymerase II-specificprotein bindingsequence-specific double-stranded DNA bindinghair colorandrogenetic alopeciaAbnormality of the skeletal systemalopecia
✦AI Summary

HOXD8 is a sequence-specific transcription factor that plays crucial roles in developmental regulation and cancer biology. As part of the homeobox gene family, HOXD8 provides cells with positional identities along the anterior-posterior axis during embryonic development 1. In neuroblastoma cells, HOXD8 expression is upregulated during chemical-induced differentiation with retinoic acid and dibutyryl cyclic AMP, suggesting its involvement in neuronal maturation 1. The gene exhibits complex expression patterns across different cancer types. In gliomas, HOXD8 is significantly upregulated and promotes tumor progression by regulating epithelial-mesenchymal transition (EMT), enhancing cell proliferation, migration, and invasion 2. Conversely, in triple-negative breast cancer, HOXD8 functions as a tumor suppressor, with reduced expression associated with cancer progression and its overexpression inhibiting cell growth through AKT/mTOR pathway suppression 3. HOXD8 also participates in epigenetic regulation networks, collaborating with long non-coding RNAs like DIAPH2-AS1 to control gene expression in placental cells 4. Additionally, hypermethylation of HOXD8 serves as a highly specific biomarker for biliary tract cancers, detectable in both tissue and bile samples with 100% sensitivity and specificity 5.

Sources cited
1
HOXD8 expression is upregulated during neuroblastoma cell differentiation induced by retinoic acid and dibutyryl cyclic AMP
PMID: 7501971
2
HOXD8 is upregulated in gliomas and promotes tumor progression through EMT regulation
PMID: 39978718
3
HOXD8 functions as tumor suppressor in triple-negative breast cancer via AKT/mTOR pathway inhibition
PMID: 34454307
4
HOXD8 participates in epigenetic regulation networks with DIAPH2-AS1 in placental cells
PMID: 30626726
5
HOXD8 hypermethylation serves as 100% sensitive and specific biomarker for biliary tract cancers
PMID: 35177798
Disease Associationsⓘ20
hair colorOpen Targets
0.41Moderate
androgenetic alopeciaOpen Targets
0.41Moderate
Abnormality of the skeletal systemOpen Targets
0.31Weak
alopeciaOpen Targets
0.30Weak
liver diseaseOpen Targets
0.14Weak
goutOpen Targets
0.13Weak
chronic kidney diseaseOpen Targets
0.10Weak
breast cancerOpen Targets
0.08Suggestive
central nervous system cancerOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
renal cell carcinomaOpen Targets
0.06Suggestive
thoracomelic dysplasiaOpen Targets
0.05Suggestive
thoracic dysostosis, isolatedOpen Targets
0.05Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.05Suggestive
short-rib thoracic dysplasia 17 with or without polydactylyOpen Targets
0.04Suggestive
Prata-Liberal-Goncalves syndromeOpen Targets
0.04Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.04Suggestive
thoracolaryngopelvic dysplasiaOpen Targets
0.04Suggestive
spondylometaphyseal dysplasia, A4 typeOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HOXD9Protein interaction81%TASORShared pathway25%TBXTShared pathway13%FZD5Shared pathway6%TBX3Shared pathway5%CRIPTOShared pathway4%
Tissue Expression6 tissues
Ovary
100%
Brain
21%
Lung
3%
Heart
3%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HOXD8HOXD9TASORTBXTFZD5TBX3CRIPTO
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P13378
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.51–1.15]
RankingsWhere HOXD8 stands among ~20K protein-coding genes
  • #11,169of 20,598
    Most Researched34
  • #12,023of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedHOXD8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Up-regulation of HOXC6, HOXD1, and HOXD8 homeobox gene expression in human neuroblastoma cells following chemical induction of differentiation.
PMID: 7501971
Tumour Biol · 1996
1.00
2
Evaluation of HOTAIR, HOXD8, HOXD9, HOXD11 gene expression levels in Turkish patients with acute and chronic myeloid leukemia: A single center experience.
PMID: 39707783
Cell Mol Biol (Noisy-le-grand) · 2024
0.90
3
HOXD8 drives Glioma progression through epithelial-mesenchymal transition regulation: Implications for prognosis and targeted therapy.
PMID: 39978718
Exp Cell Res · 2025
0.80
4
Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.
PMID: 38723632
Am J Hum Genet · 2024
0.70
5
HOXD8 hypermethylation as a fully sensitive and specific biomarker for biliary tract cancer detectable in tissue and bile samples.
PMID: 35177798
Br J Cancer · 2022
0.60