TMEM38B

Chr 9q31.2

transmembrane protein 38B

Aliases:: FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B
MANE:: ENST00000374692.8

OMIM: 611236 ↗NCBI: 55151 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TMEM38B · Q9NVV0

v62025-08-01

Predicted Aligned Error matrix for TMEM38B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.9/ 100

Confident

291 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)20%
Low(50–70)10%
Very low(< 50)16%

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
Osteogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

osteogenesis imperfecta
0.68
osteogenesis imperfecta type 4
0.37
mathematical ability
0.28
Iron deficiency anemia
0.27
Abnormal erythrocyte morphology
0.27
Abnormality of limbs
0.25
drug allergy
0.22
placental abruption
0.22
alcohol drinking
0.22
placenta praevia
0.22

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

Protein function (UniProt)

Trimeric intracellular cation channel type B

Intracellular monovalent cation channel required for maintenance of rapid intracellular calcium release. Acts as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity). Activated by increased cytosolic Ca(2+) levels (By similarity)