Identity
HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
GPATC5,GPATCH5,Mos2,Spp2,T54
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27238
MIM: 301003
HGNC: 30677
Ensembl: ENSG00000068394
Variants:
dbSNP: 27238
ClinVar: 27238
TCGA: ENSG00000068394
COSMIC: GPKOW
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000068394 | ENST00000156109 | Q92917 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28612833 | 2017 | Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. | 5 |
| 28612833 | 2017 | Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. | 5 |
| 25296192 | 2014 | GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo. | 8 |
| 25296192 | 2014 | GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo. | 8 |
Citation
Dessen P
GPKOW (G-patch domain and KOW motifs)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63938/cancer-prone-explorer/
