SNX3 - sorting nexin 3 Gene

Homo sapiens

Also known as SDP3; Grd19; MCOPS8

Gene ID: 8724 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

0
100
162 a.a.

Protein Preferred Names

Protein Names

sorting nexin-3

sorting nexin 3A

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13539	SNX3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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