GPKOW

Chr Xp11.23

G-patch domain and KOW motifs

Aliases:: T54, GPATC5, GPATCH5, Spp2, Mos2
MANE:: ENST00000156109.7

OMIM: 301003 ↗NCBI: 27238 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GPKOW · Q92917

v62025-08-01

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

Mean pLDDT

69.7/ 100

Low

476 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)31%
Low(50–70)16%
Very low(< 50)30%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paediatric disorders - additional genes
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe microcephaly
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

neurodegenerative disease
0.54
holoprosencephaly-hypokinesia-congenital contractures syndrome
0.43
dengue disease
0.37
systemic-onset juvenile idiopathic arthritis
0.01
systemic lupus erythematosus
0.01
non-small cell lung carcinoma
0.01
pachyonychia congenita
0.01
cervical carcinoma
0.01
cervical cancer
0.01
microcephaly
0.00

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

Protein function (UniProt)

G-patch domain and KOW motifs-containing protein

RNA-binding protein involved in pre-mRNA splicing. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)