SOHLH2

Chr 13q13.3

spermatogenesis and oogenesis specific basic helix-loop-helix 2

Aliases:: FLJ20449, TEB1, bHLHe81, SPATA28
MANE:: ENST00000379881.8

OMIM: 616066 ↗NCBI: 54937 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SOHLH2 · Q9NX45

v62025-08-01

Predicted Aligned Error matrix for SOHLH2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.9/ 100

Low

425 residues

Confidence breakdown

Very high(≥ 90)11%
Confident(70–90)33%
Low(50–70)6%
Very low(< 50)51%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Primary ovarian insufficiency
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

plasma cell myeloma
0.38
myocardial infarction
0.28
musculoskeletal system disorder
0.23
spondylolisthesis
0.23
monoclonal gammopathy
0.21
primary ovarian failure
0.21
Premature ovarian insufficiency
0.18
breast cancer
0.08
breast carcinoma
0.08
pulmonary fibrosis
0.08

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

Protein function (UniProt)

Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2

Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity)