HOXB1

Chr 17q21.32

homeobox B1

MANE:: ENST00000239174.7

OMIM: 142968 ↗NCBI: 3211 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HOXB1 · P14653

v62025-08-01

Predicted Aligned Error matrix for HOXB1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.7/ 100

Low

301 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)4%
Low(50–70)32%
Very low(< 50)44%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss

Disease associations (Open Targets)

Congenital hereditary facial paralysis with variable hearing loss
0.65
neurodegenerative disease
0.46
congenital hereditary facial paralysis-variable hearing loss syndrome
0.37
prostate carcinoma
0.24
hereditary disease
0.19
keratoconus
0.14
asthma
0.12
insomnia
0.10
central nervous system cancer
0.08
glioma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Homeobox protein Hox-B1

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures