SNX3 - sorting nexin 3 Gene

Also Known as SDP3; Grd19; MCOPS8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8724

About SNX3

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:108,211,222-108,261,040 (from NCBI)

This gene has 4 transcripts (splice variants), 222 orthologues, 15 paralogues and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 95.7), adrenal (RPKM 90.6) and 25 other tissues.

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 most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

SNX3 Products (4)

mRNA Protein Name
NM_001300928.2 NP_001287857.1 sorting nexin-3 isoform c
NM_001300929.2 NP_001287858.1 sorting nexin-3 isoform d
NM_003795.6 NP_003786.1 sorting nexin-3 isoform a
NM_152827.4 NP_690040.1 sorting nexin-3 isoform b

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables phosphatidylinositol-3-phosphate binding IDA
IDA: Inferred from direct assay
11433298 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17474147 GOA
enables protein phosphatase binding IPI
IPI: Inferred from physical interaction
17622474 GOA
enables retromer complex binding IDA
IDA: Inferred from direct assay
30213940 GOA
Biological Process GO Annotation Evidence References Source
involved in intralumenal vesicle formation IMP
IMP: Inferred from mutant phenotype
18767904 GOA
involved in membrane invagination IDA
IDA: Inferred from direct assay
18767904 GOA
involved in negative regulation of early endosome to late endosome transport IDA
IDA: Inferred from direct assay
18767904 GOA
involved in negative regulation of phagocytosis IMP
IMP: Inferred from mutant phenotype
23237080 GOA
involved in negative regulation of protein catabolic process IDA
IDA: Inferred from direct assay
18767904 GOA
involved in negative regulation of protein transport IDA
IDA: Inferred from direct assay
18767904 GOA
involved in negative regulation of viral entry into host cell IDA
IDA: Inferred from direct assay
18767904 GOA
involved in protein to membrane docking IDA
IDA: Inferred from direct assay
24344282 GOA
involved in regulation of Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
21725319 GOA
involved in response to bacterium IDA
IDA: Inferred from direct assay
20482551 GOA
Cellular Component GO Annotation Evidence References Source
located in clathrin-coated vesicle IDA
IDA: Inferred from direct assay
21725319 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
11279102 GOA
located in cytosol IDA
IDA: Inferred from direct assay
9819414 GOA
located in early endosome IDA
IDA: Inferred from direct assay
11433298 GOA
located in early endosome membrane IDA
IDA: Inferred from direct assay
18767904 GOA
located in early phagosome IDA
IDA: Inferred from direct assay
23237080 GOA
located in endosome membrane IDA
IDA: Inferred from direct assay
15673616 GOA
part of retromer complex IDA
IDA: Inferred from direct assay
21725319 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNX3 Protein Structure

PX

PX: PX domain (27 - 147)

  • 0
  • 100
  • 162 a.a.
Protein Preferred Names Protein Names

sorting nexin-3

  • sorting nexin 3A

SNX3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SNX3 O60493 RPRM Homo sapiens Q9NS64
Y2H Prey Pooling
32296183
Intra
SNX3 O60493 RPRM Homo sapiens Q9NS64
Validated Y2H
32296183
Intra
SNX3 O60493 RPRM Homo sapiens Q9NS64
Y2H Array
32296183
Intra
SNX3 O60493 ARL6IP1 Homo sapiens Q15041
Validated Y2H
25416956
Intra
SNX3 O60493 ARL6IP1 Homo sapiens Q15041
Y2H Array
25416956
Intra
SNX3 O60493 CRK Homo sapiens P46108
Peptide Array
17474147
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Microphthalmia, Syndromic 8

  • MCOPS8

  • Mmep Syndrome

  • Mmep

  • Syndromic Microphthalmia Type 8

  • Viljoen-Smart Syndrome

  • Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs, And Prognathism

  • Syndromic Microphthalmia 8

  • Microcephaly-Microphthalmia-Ectrodactyly Of Lower Limbs-Prognathism Syndrome

  • Microphthalmia Syndromic 8

  • Microcephaly Microphthalmia Ectrodactyly Of Lower Limbs And Prognathism

  • Viljoen Smart Syndrome

  • Microphthalmia, Syndromic, 8

  • Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs And Prognathism
Syndromic Microphthalmia

  • Microphthalmia, Syndromic
Microphthalmia

  • Microphthalmos

  • Isolated Anophthalmia-Microphthalmia Syndrome

  • Isolated Microphthalmia-Anophthalmia-Coloboma

  • Simple Microphthalmos

  • Clinical Anophthalmia

  • Isolated Anophthalmia - Microphthalmia

  • Isolated Pure Microphthalmia

  • Mac Spectrum

  • Microphthalmia-Anophthalmia-Coloboma Spectrum

  • Primitive Anophthalmia

  • Globe Of Eye Small

  • Small Eyeball

  • Hypoplasia Of Eye

  • Isolated Nanophthalmos

  • Rudimentary Eye

  • Dysplasia Of Eye
Fraser Syndrome 2

  • FRASRS2
Parkinson Disease, Late-Onset

  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-181439 SNX3-IN-1 Inhibitor / Unkown
HY-RS13539 SNX3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SNX3 VGNC VGNC:77683
Rattus norvegicus SNX3 RGD RGD:1595151
Canis familiaris SNX3 VGNC VGNC:46636
Bos taurus SNX3 VGNC VGNC:35107
Mus musculus SNX3 MGD MGI:1860188
Others SNX3 NCBI