Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29887
Gene name Gene Name - the full gene name approved by the HGNC.
Sorting nexin 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNX10
Synonyms (NCBI Gene) Gene synonyms aliases
OPTB8
Disease Acronyms (UniProt) Disease acronyms from UniProt database
OPTB8
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p15.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs377321694 T>A,C Pathogenic Synonymous variant, coding sequence variant, intron variant, stop gained
rs398123011 G>A Pathogenic Missense variant, coding sequence variant, intron variant
rs587777490 C>T Pathogenic Coding sequence variant, genic upstream transcript variant, stop gained
rs897553060 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1353879401 C>T Likely-pathogenic Coding sequence variant, intron variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024587 hsa-miR-215-5p Microarray 19074876
MIRT026783 hsa-miR-192-5p Microarray 19074876
MIRT543820 hsa-miR-6507-5p PAR-CLIP 21572407
MIRT103410 hsa-miR-126-5p PAR-CLIP 21572407
MIRT543819 hsa-miR-3928-5p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001696 Process Gastric acid secretion IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005545 Function 1-phosphatidylinositol binding IMP 17012226
GO:0005634 Component Nucleus IDA 22174188
GO:0005783 Component Endoplasmic reticulum IDA 22174188
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614780 14974 ENSG00000086300
Protein
UniProt ID Q9Y5X0
Protein name Sorting nexin-10
Protein function Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the l
PDB 4ON3 , 4PZG , 6KOK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00787 PX 40 124 PX domain Domain
Sequence
MFPEQQKEEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRYREFVWL
RQRLQSNALLVQLPELPSKNLFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLF
LQSH
LNSEDIEACVSGQTKYSVEEAIHKFALMNRRFPEEDEEGKKENDIDYDSESSSSGL
GHSSDDSSSHGCKVNTAPQES
Sequence length 201
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease term Disease name Evidence References Source
Otitis media Otitis Media ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Hypertension Hypertension GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Atrial Fibrillation Associate 33594863
Carcinoma Squamous Cell Associate 34116656
Esophageal Neoplasms Associate 26631031
Fibrosis Associate 33594863
Heart Diseases Associate 33594863
Heart Valve Diseases Associate 33594863
Inflammation Associate 31356157
Neoplasm Metastasis Associate 34511489
Neoplasms Associate 26631031, 30487700, 34116656
Osteopetrosis Associate 28592808, 30885997, 39875016