Gene Gene information from NCBI Gene database.
Entrez ID 9784
Gene name Sorting nexin 17
Gene symbol SNX17
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p23.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
162
miRTarBase ID miRNA Experiments Reference
MIRT022223 hsa-miR-124-3p Microarray 18668037
MIRT040825 hsa-miR-18a-3p CLASH 23622248
MIRT496117 hsa-miR-4500 PAR-CLIP 22291592
MIRT496116 hsa-let-7a-5p PAR-CLIP 22291592
MIRT496115 hsa-let-7b-5p PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0003279 Process Cardiac septum development IEA
GO:0005102 Function Signaling receptor binding NAS 12169628
GO:0005515 Function Protein binding IPI 11237770, 16712798, 17474147, 28892079, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605963 14979 ENSG00000115234
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15036
Protein name Sorting nexin-17
Protein function Critical regulator of endosomal recycling of numerous surface proteins, including integrins, signaling receptor and channels (PubMed:15121882, PubMed:15769472, PubMed:39587083). Binds to NPxY sequences in the cytoplasmic tails of target cargos (
PDB 3FOG , 3LUI , 4GXB , 4TKN , 7RM8 , 9AU7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00787 PX 23 105 PX domain Domain
PF18116 SNX17_FERM_C 270 384 Sorting Nexin 17 FERM C-terminal domain Domain
Sequence
MHFSIPETESRSGDSGGSAYVAYNIHVNGVLHCRVRYSQLLGLHEQLRKEYGANVLPAFP
PKKLFSLTPAEVEQRREQLEKYMQAVRQDPLLGSSETFNSFLRRA
QQETQQVPTEEVSLE
VLLSNGQKVLVNVLTSDQTEDVLEAVAAKLDLPDDLIGYFSLFLVREKEDGAFSFVRKLQ
EFELPYVSVTSLRSQEYKIVLRKSYWDSAYDDDVMENRVGLNLLYAQTVSDIERGWILVT
KEQHRQLKSLQEKVSKKEFLRLAQTLRHYGYLRFDACVADFPEKDCPVVVSAGNSELSLQ
LRLPGQQLREGSFRVTRMRCWRVTSSVPLPSGSTSSPGRGRGEVRLELAFEYLMSKDRLQ
WVTITSPQAIMMSICLQSMVDELM
VKKSGGSIRKMLRRRVGGTLRRSDSQQAVKSPPLLE
SPDATRESMVKLSSKLSAVSLRGIGSPSTDASASDVHGNFAFEGIGDEDL
Sequence length 470
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis, Gouty Gouty arthritis GWASDB_DG 20884846, 23263486
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 30939909
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 40303303 Stimulate
★☆☆☆☆
Found in Text Mining only
Cholelithiasis Cholecystolithiasis Pubtator 40428345 Associate
★☆☆☆☆
Found in Text Mining only
Gout Gout GWASDB_DG 20884846, 23263486
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Myocardial Infarction Myocardial Infarction BEFREE 30025651
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Neurodegenerative disorder Pubtator 31671755 Associate
★☆☆☆☆
Found in Text Mining only