HOXB8

Chr 17

homeobox B8

Also known as: HOX2, HOX2D, Hox-2.4

NCBI Gene: 3218ENSG00000120068UniProt: P17481

The protein functions as a sequence-specific transcription factor that provides cells with positional identities along the anterior-posterior axis during development. Knockout studies in mice demonstrate that loss of function leads to excessive pathologic grooming behavior similar to trichotillomania in humans, suggesting HOXB8 mutations may cause obsessive-compulsive spectrum disorders. The inheritance pattern and specific human disease associations have not been established.

Summary from RefSeq, UniProt, Mechanism
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0
Active trials
22
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.45
LOEUF
LOF
Mechanism· predicted
Clinical Summary— HOXB8
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.85) — some intolerance to loss-of-function variants.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.45LOEUF
pLI 0.848
Z-score 2.73
OE 0.09 (0.03–0.45)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.17Z-score
OE missense 0.72 (0.61–0.85)
100 obs / 138.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.09 (0.03–0.45)
0≤0.351.4
Missense OE0.72 (0.61–0.85)
0≤0.61.4
Synonymous OE1.13
0≤1.21.6
LoF obs/exp: 1 / 10.6Missense obs/exp: 100 / 138.7Syn Z: -0.83
DN
0.5673th %ile
GOF
0.3689th %ile
LOF
0.71top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.45

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HOXB8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Downregulation of homeobox B8 in attenuating non-small cell lung cancer cell migration and invasion though the epithelial-mesenchymal transition pathway
Jiang S et al.·Transl Cancer Res
2024
Anaplasma phagocytophilum Induces TLR- and MyD88-Dependent Signaling in In Vitro Generated Murine Neutrophils
Müller BJ et al.·Front Cell Infect Microbiol
2021
Exosome-derived lnc-HOXB8-1:2 induces tumor-associated macrophage infiltration to promote neuroendocrine differentiated colorectal cancer progression by sponging hsa-miR-6825-5p
Li X et al.·BMC Cancer
2022
The Derivation and Use of HoxB8-Driven Conditionally Immortalized Macrophages.
Lail SS et al.·Methods Mol Biol
2023
Neutrophil Extracellular Traps Are Increased in Chronic Myeloid Leukemia and Are Differentially Affected by Tyrosine Kinase Inhibitors
Telerman A et al.·Cancers (Basel)
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
HOXB8 promotes invasion and metastasis of high-grade serous ovarian cancer via suppression of the KDM6B/C/EBPα signaling axis.
Xiang L et al.·Transl Cancer Res
2026Open Access
Novel EWSR1::HOXB8 fusion identified in a rare spindle cell sarcoma of a young woman.
Cioce A et al.·Virchows Arch
2026
Microglia replacement by ER-Hoxb8 conditionally immortalized macrophages provides insight into Aicardi-Goutières syndrome neuropathology.
Nemec KM et al.·Elife
2026Open Access
Defective Hoxb8 microglia are causative for both chronic anxiety and pathological overgrooming in mice.
Van Deren DA et al.·Mol Psychiatry
2026Open Access
Comprehensive analysis illustrating the role of HOXB8 in head and neck squamous cell carcinoma: evidence from multi-omics analysis and experiments validation.
Zhang JW et al.·BMC Cancer
2025Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients