GPATCH8

G patch domain-containing protein 8 is a protein that in humans is encoded by the GPATCH8 gene.^[5][6]

GPATCH8
Identifiers
Aliases	GPATCH8, GPATC8, KIAA0553, G-patch domain containing 8
External IDs	OMIM: 614396; MGI: 1918667; HomoloGene: 46117; GeneCards: GPATCH8; OMA:GPATCH8 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.31 Start 44,395,281 bp[1] End 44,503,430 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 D-E1 Start 102,475,915 bp[2] End 102,556,392 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve secondary oocyte right hemisphere of cerebellum gastrocnemius muscle Achilles tendon nipple epithelium of colon external globus pallidus pylorus inferior olivary nucleus Top expressed in otic placode saccule otic vesicle tail of embryo zygote genital tubercle neural layer of retina Rostral migratory stream secondary oocyte pineal gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding metal ion binding nucleic acid binding RNA binding Cellular component cellular component Biological process biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23131 237943 Ensembl ENSG00000186566 ENSMUSG00000034621 UniProt Q9UKJ3 A2A6A1 RefSeq (mRNA) NM_001002909 NM_001304939 NM_001304940 NM_001304941 NM_001304942 NM_001304943 NM_001159492 RefSeq (protein) NP_001002909 NP_001291868 NP_001291869 NP_001291870 NP_001291871 NP_001291872 NP_001152964 Location (UCSC) Chr 17: 44.4 – 44.5 Mb Chr 11: 102.48 – 102.56 Mb PubMed search [3] [4]
Wikidata
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Hyperuricemia

Hyperuricemia cosegregating with osteogenesis imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing^[7]