Gene Gene information from NCBI Gene database.
Entrez ID 8724
Gene name Sorting nexin 3
Gene symbol SNX3
Synonyms (NCBI Gene)
Grd19MCOPS8SDP3
Chromosome 6
Chromosome location 6q21
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.
238
miRTarBase ID miRNA Experiments Reference
MIRT028575 hsa-miR-30a-5p Proteomics 18668040
MIRT047345 hsa-miR-34a-5p CLASH 23622248
MIRT699071 hsa-miR-1323 HITS-CLIP 23313552
MIRT699070 hsa-miR-548o-3p HITS-CLIP 23313552
MIRT532400 hsa-miR-1276 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17474147, 21725319, 22719997, 24344282, 25416956, 30213940, 32296183
GO:0005737 Component Cytoplasm IDA 11279102
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IDA 11433298, 18767904, 22719997
GO:0005769 Component Early endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605930 11174 ENSG00000112335
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60493
Protein name Sorting nexin-3 (Protein SDP3)
Protein function Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Can also bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(
PDB 2MXC , 2YPS , 5F0J , 5F0L , 5F0M , 5F0P , 7BLO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00787 PX 57 148 PX domain Domain
Sequence
MAETVADTRRLITKPQNLNDAYGPPSNFLEIDVSNPQTVGVGRGRFTTYEIRVKTNLPIF
KLKESTVRRRYSDFEWLRSELERESKVVVPPLPGKAFLRQLPFRGDDGIFDDNFIEERKQ
GLEQFINKVAGHPLAQNERCLHMFLQDE
IIDKSYTPSKIRHA
Sequence length 162
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   WNT ligand biogenesis and trafficking
Ub-specific processing proteases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
MICROPHTHALMIA, SYNDROMIC 8 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SNX3-related disorder Likely benign ClinVar
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 22673115, 29414832 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34718348, 36843602 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 27778231
★☆☆☆☆
Found in Text Mining only
Class III malocclusion Malocclusion BEFREE 12471201, 17655765
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31612043
★☆☆☆☆
Found in Text Mining only
Dementia Dementia Pubtator 34321086 Associate
★☆☆☆☆
Found in Text Mining only
Ectrodactyly Ectrodactyly BEFREE 12471201
★☆☆☆☆
Found in Text Mining only
Ectrodactyly Ectrodactyly Pubtator 19223930 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation GENOMICS_ENGLAND_DG 12471201
★☆☆☆☆
Found in Text Mining only
Microcephaly Microcephaly BEFREE 12471201, 17655765
★☆☆☆☆
Found in Text Mining only