SNX6 - sorting nexin 6 Gene

Homo sapiens

Also known as TFAF2; MSTP010

Gene ID: 58533 | Gene type: protein coding

About SNX6

Cytogenetic location: 14q13.1 Genomic coordinates (GRCh38): 14:34,561,093-34,630,148 (from NCBI)

This gene has 11 transcripts (splice variants), 225 orthologues and 15 paralogues. Ubiquitous expression in placenta (RPKM 36.9), duodenum (RPKM 33.6) 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 associates with the long isoform of the Leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with Receptor Tyrosine Kinases for platelet-derived growth factor, Insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008]

SNX6 Products(3)

mRNA	Protein	Name
NM_001366519.1	NP_001353448.1	sorting nexin-6 isoform c
NM_021249.5	NP_067072.3	sorting nexin-6 isoform a
NM_152233.4	NP_689419.3	sorting nexin-6 isoform b

SNX6 Protein Structure

Vps5

0
100
200
300
418 a.a.

Protein Preferred Names

Protein Names

sorting nexin-6

TRAF4-associated factor 2

Related Diseases

Diseases

Alias

Holoprosencephaly 8

HPE8	Holoprosencephaly-8

Chromosome 14q11-Q22 Deletion Syndrome

14q11.2 Microdeletion Syndrome	Zahir-Friedman Syndrome
Del(14)(Q11.2)	Monosomy 14q11.2

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

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-RS13545	SNX6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SNX6	MGD	MGI:1919433
Macaca mulatta	SNX6	VGNC	VGNC:104700
Bos taurus	SNX6	VGNC	VGNC:35112
Rattus norvegicus	SNX6	RGD	RGD:1304647
Canis familiaris	SNX6	VGNC	VGNC:51689
Felis catus	SNX6	VGNC	VGNC:80838