HEY2

Chr 6q22.31

hes related family bHLH transcription factor with YRPW motif 2

Aliases:: bHLHb32, HERP1, HESR2
MANE:: ENST00000368364.4

OMIM: 604674 ↗NCBI: 23493 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

HEY2 · Q9UBP5

v62025-08-01

Predicted Aligned Error matrix for HEY2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.3/ 100

Low

337 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)10%
Low(50–70)19%
Very low(< 50)43%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS)
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

Abnormality of the skeletal system
0.48
atrial fibrillation
0.46
Brugada syndrome
0.44
type 2 diabetes mellitus
0.43
migraine disorder
0.41
obesity disorder
0.40
familial thoracic aortic aneurysm and aortic dissection
0.39
Tetralogy of Fallot
0.39
endometrial carcinoma
0.34
neurodegenerative disease
0.33

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

Protein function (UniProt)

Hairy/enhancer-of-split related with YRPW motif protein 2

Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6