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SNX6 - sorting nexin 6 Gene

Also Known as TFAF2; MSTP010

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 58533

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables dynactin binding	IDA IDA: Inferred from direct assay	19619496	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11278302	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	11279102	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cellular response to amyloid-beta	IGI IGI: Inferred from genetic interaction	27541017	GOA
involved in intracellular protein transport	IMP IMP: Inferred from mutant phenotype	19935774	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11279102	GOA
involved in negative regulation of neuron apoptotic process	IGI IGI: Inferred from genetic interaction	27541017	GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	11279102	GOA
NOT involved in regulation of histamine secretion by mast cell	IMP IMP: Inferred from mutant phenotype	18253931	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	19935774	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11279102	GOA
located in early endosome membrane	IDA IDA: Inferred from direct assay	19935774	GOA
part of retromer complex	IDA IDA: Inferred from direct assay	19619496	GOA
located in tubular endosome	IDA IDA: Inferred from direct assay	19619496	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

SNX6 Protein Structure

Vps5

0
100
200
300
400
418 a.a.

Protein Preferred Names	Protein Names
sorting nexin-6	TRAF4-associated factor 2

SNX6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SNX6	Q9UNH7	SNX2	Homo sapiens	O60749	Anti Tag CoIP	33961781
Intra	SNX6	Q9UNH7	SNX2	Homo sapiens	O60749	Y2H Array	32296183
Intra	SNX6	Q9UNH7	SNX2	Homo sapiens	O60749	Y2H Prey Pooling	32296183
Intra	SNX6	Q9UNH7	SNX2	Homo sapiens	O60749	Anti Tag CoIP	35271311
Intra	SNX6	Q9UNH7	TEX11	Homo sapiens	Q8IYF3-3	Y2H Array	32296183
Intra	SNX6	Q9UNH7	TEX11	Homo sapiens	Q8IYF3-3	Y2H Prey Pooling	32296183
Cross	SNX6	Q9UNH7	incE	Chlamydia trachomatis serovar D	P0DJI4	Confocal	26118995
Cross	SNX6	Q9UNH7	incE	Chlamydia trachomatis serovar D	P0DJI4	Anti Tag CoIP	26118995
Intra	SNX6	Q9UNH7	SNX1	Homo sapiens	Q13596	Y2H Prey Pooling	32296183
Intra	SNX6	Q9UNH7	SNX1	Homo sapiens	Q13596	Anti Bait CoIP	23524952
Intra	SNX6	Q9UNH7	SNX1	Homo sapiens	Q13596	Y2H	21988832
Intra	SNX6	Q9UNH7	SNX1	Homo sapiens	Q13596	Y2H Array	32296183
Intra	SNX6	Q9UNH7	SNX1	Homo sapiens	Q13596	Anti Tag CoIP	35271311
Intra	SNX6	Q9UNH7	DCTN1	Homo sapiens	Q14203	Anti Bait CoIP	23524952

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS13545	SNX6 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SNX6	NCBI