HES7

Chr 17p13.1

hes family bHLH transcription factor 7

Aliases:: bHLHb37
MANE:: ENST00000541682.7

OMIM: 608059 ↗NCBI: 84667 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HES7 · Q9BYE0

v62025-08-01

Predicted Aligned Error matrix for HES7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.3/ 100

Confident

225 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)16%
Low(50–70)28%
Very low(< 50)19%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Familial Neural Tube Defects
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive spondylocostal dysostosis
0.69
spondylocostal dysostosis 4, autosomal recessive
0.62
neurodegenerative disease
0.53
scoliosis
0.34
Decreased body weight
0.34
Failure to thrive in infancy
0.34
Short stature
0.34
Thoracic scoliosis
0.34
Delayed ability to walk
0.34
Childhood-onset short-trunk short stature
0.34

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

Protein function (UniProt)

Transcription factor HES-7

Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity)