BHLHE22

Chr 8q12.3

basic helix-loop-helix family member e22

Aliases:: CAGL85, Beta3
MANE:: ENST00000321870.3

OMIM: 613483 ↗NCBI: 27319 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

BHLHE22 · Q8NFJ8

v62025-08-01

Predicted Aligned Error matrix for BHLHE22 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.9/ 100

Low

381 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)5%
Low(50–70)35%
Very low(< 50)44%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Childhood onset hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

risk-taking behaviour
0.46
skin aging
0.40
neurodegenerative disease
0.35
attention deficit-hyperactivity disorder
0.34
schizophrenia
0.31
response to xenobiotic stimulus
0.31
smoking initiation
0.28
major depressive disorder
0.26
cervical carcinoma
0.26
type 2 diabetes mellitus
0.25

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

Protein function (UniProt)

Class E basic helix-loop-helix protein 22

Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity). In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal cord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation