HOXB7
Chr 17homeobox B7
Also known as: HHO.C1, HOX2, HOX2C, Hox-2.3
The encoded protein is a sequence-specific transcription factor that provides cells with positional identities along the anterior-posterior axis during development. Loss-of-function mutations in HOXB7 have not been established as a cause of human disease, as indicated by the very low probability of loss-of-function intolerance. The gene shows tolerance to haploinsufficiency, suggesting that heterozygous mutations are unlikely to cause developmental abnormalities.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
63 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 9 | 0 | 9 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 47 | 2 | 0 | 49 |
Likely Benign | 0 | 1 | 0 | 2 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 48 | 12 | 2 | 62 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HOXB7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools