BHLHA9

Chr 17p13.3

basic helix-loop-helix family member a9

Aliases:: BHLHF42
MANE:: ENST00000391429.2

OMIM: 615416 ↗NCBI: 727857 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

BHLHA9 · Q7RTU4

v62025-08-01

Predicted Aligned Error matrix for BHLHA9 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.7/ 100

Low

235 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)7%
Low(50–70)37%
Very low(< 50)32%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

mesoaxial synostotic syndactyly with phalangeal reduction
0.73
Split hand-split foot malformation
0.39
split hand-foot malformation
0.37
split hand or/and split foot malformation
0.37
split hand-foot malformation 1 with sensorineural hearing loss
0.37
polydactyly
0.37
Split hand - split foot - deafness
0.37
Camptosynpolydactyly, complex
0.34
Abnormality of the skeletal system
0.31
Tibial aplasia - ectrodactyly
0.19

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

Protein function (UniProt)

Class A basic helix-loop-helix protein 9

Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis