Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27238
Gene name Gene Name - the full gene name approved by the HGNC.
G-patch domain and KOW motifs
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GPKOW
Synonyms (NCBI Gene) Gene synonyms aliases
GPATC5, GPATCH5, Mos2, Spp2, T54
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT697113 hsa-miR-4428 HITS-CLIP 23313552
MIRT697112 hsa-miR-3173-3p HITS-CLIP 23313552
MIRT697111 hsa-miR-6891-5p HITS-CLIP 23313552
MIRT697110 hsa-miR-34b-3p HITS-CLIP 23313552
MIRT697109 hsa-miR-4695-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome IMP 25296192
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003723 Function RNA binding IDA 21880142
GO:0003723 Function RNA binding IMP 25296192
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
301003 30677 ENSG00000068394
Protein
UniProt ID Q92917
Protein name G-patch domain and KOW motifs-containing protein (G-patch domain-containing protein 5) (Protein MOS2 homolog) (Protein T54)
Protein function 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).
PDB 7DVQ , 7QTT , 8CH6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12656 G-patch_2 149 211 G-patch domain Domain
PF00467 KOW 243 274 KOW motif Family
Sequence
MADSKEGVLPLTAASTAPISFGFTRTSARRRLADSGDGAGPSPEEKDFLKTVEGRELQSV
KPQEAPKELVIPLIQNGHRRQPPARPPGPSTDTGALADGVVSQAVKELIAESKKSLEERE
NAGVDPTLAIPMIQKGCTPSGEGADSEPRAETVPEEANYEAVPVEAYGLAMLRGMGWKPG
EGIGRTFNQVVKPRVNSLRPKGLGLGANLTE
AQALTPTGPSRMPRPDEEQEKDKEDQPQG
LVPGGAVVVLSGPHRGLYGKVEGLDPDNVRAMVRLAVGSRVVTVSEYYLRPVSQQEFDKN
TLDLRQQNGTASSRKTLWNQELYIQQDNSERKRKHLPDRQDGPAAKSEKAAPRSQHWLHR
DLRVRFVDNMYKGGQYYNTKMIIEDVLSPDTCVCRTDEGRVLEGLREDMLETLVPKAEGD
RVMVVLGPQTGRVGHLLSRDRARSRALVQLPRENQVVELHYDAICQYMGPSDTDDD
Sequence length 476
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    mRNA Splicing - Major Pathway
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Holoprosencephaly Holoprosencephaly rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040
View all (76 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Congenital contracture holoprosencephaly-hypokinesia-congenital contractures syndrome GenCC