HOXB5
Chr 17homeobox B5
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
Clinical Summary— HOXB5
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.70) — some intolerance to loss-of-function variants.
Some data sources returned errors (1)
pubtator: Error: PubTator3 HTTP 502
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.58LOEUF
pLI 0.696
Z-score 2.33
OE 0.12 (0.04–0.58)
More LoF-intolerant than ~75% of genes
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.11Z-score
OE missense 0.98 (0.86–1.11)
156 obs / 159.9 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.12 (0.04–0.58)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.98 (0.86–1.11)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.95
0≤1.21.6
LoF obs/exp: 1 / 8.2Missense obs/exp: 156 / 159.9Syn Z: 0.34
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HOXB5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
HOMEOBOX B5; HOXB5
MIM #142960 · *
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
CARD9 protein SUMOylation regulates HOXB5 nuclear translocation and Parkin-mediated mitophagy in myocardial I/R injury.
Li Y et al.·J Cell Mol Med
2024
HOXB5 Promotes the Proliferation and Invasion of Breast Cancer Cells.
Lee JY et al.·Int J Biol Sci
2015
Knockdown of Homeobox B5 (HOXB5) Inhibits Cell Proliferation, Migration, and Invasion in Non-Small Cell Lung Cancer Cells Through Inactivation of the Wnt/β-Catenin Pathway.
Zhang B et al.·Oncol Res
2018
A microRNA-7 binding site polymorphism in HOXB5 leads to differential gene expression in bladder cancer.
Luo J et al.·PLoS One
2012
HOXB5 promotes the progression of breast cancer through wnt/beta-catenin pathway.
Zhang J et al.·Pathol Res Pract
2021
Long non‑coding RNA PRNCR1 exerts oncogenic effects in tongue squamous cell carcinoma in vitro and in vivo by sponging microRNA‑944 and thereby increasing HOXB5 expression.
Lin C et al.·Int J Mol Med
2020
HOXB8 expression in ovarian serous carcinoma effusions is associated with shorter survival.
Stavnes HT et al.·Gynecol Oncol
2013
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Lineage tracing of both quiescent G0 and active Hoxb5+ LT-HSCs that actively contribute to homeostatic mouse hematopoiesis.
Xiang J et al.·Proc Natl Acad Sci U S A
2025Open AccessFunctional
Protective role of HOXB5-orchestrated mitochondrial homeostasis and mitophagy in cardiomyocytes after ischemia-reperfusion via transcriptionally activating Sirt5.
Li Y et al.·Cardiovasc Drugs Ther
2025
HOXB5 promotes the progression and metastasis of osteosarcoma cells by activating the JAK2/STAT3 signalling pathway.
Ma Q et al.·Heliyon
2024Open Access
Transcription factor Hoxb5 reveals the unidirectional hierarchy of hematopoietic stem cell pool.
Zhao Q et al.·Stem Cell Res
2024
Top 5 resultsSearch Europe PMC ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools