HOXA2

Chr 7p15.2

homeobox A2

MANE:: ENST00000222718.7

OMIM: 604685 ↗NCBI: 3199 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HOXA2 · O43364

v62025-08-01

Predicted Aligned Error matrix for HOXA2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.0/ 100

Low

376 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)4%
Low(50–70)31%
Very low(< 50)51%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Deafness and congenital structural abnormalities
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

Bilateral microtia - deafness - cleft palate
0.70
bilateral microtia-deafness-cleft palate syndrome
0.69
microtia
0.39
Hearing impairment
0.27
hereditary disease
0.19
Abnormality of the gastrointestinal tract
0.17
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
0.12
cleft palate
0.08
Treacher-Collins syndrome
0.08
amelogenesis imperfecta
0.08

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

Protein function (UniProt)

Homeobox protein Hox-A2

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