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

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

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