SNX19 - sorting nexin 19 Gene

Homo sapiens

Also known as CHET8

Gene ID: 399979 | Gene type: protein coding

About SNX19

This gene has 13 transcripts (splice variants), 259 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 9.7), thyroid (RPKM 8.9) and 25 other tissues.

Summary

Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in Insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced Insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]

SNX19 Products(12)

mRNA	Protein	Name
NM_001301089.2	NP_001288018.1	sorting nexin-19 isoform 2
NM_001347918.2	NP_001334847.2	sorting nexin-19 isoform 3
NM_001347919.2	NP_001334848.2	sorting nexin-19 isoform 4
NM_001347920.2	NP_001334849.2	sorting nexin-19 isoform 5
NM_001347921.2	NP_001334850.2	sorting nexin-19 isoform 6
NM_001347922.2	NP_001334851.2	sorting nexin-19 isoform 7
NM_001347923.2	NP_001334852.2	sorting nexin-19 isoform 8
NM_001347924.2	NP_001334853.1	sorting nexin-19 isoform 9
NM_001347925.2	NP_001334854.1	sorting nexin-19 isoform 10
NM_001347926.2	NP_001334855.1	sorting nexin-19 isoform 11
NM_001347927.2	NP_001334856.1	sorting nexin-19 isoform 12
NM_014758.3	NP_055573.3	sorting nexin-19 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16273344	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in chondrocyte differentiation	IMP IMP: Inferred from mutant phenotype	19877062	GOA
involved in dense core granule maturation	IGI IGI: Inferred from genetic interaction	24843546	GOA
involved in insulin secretion	IGI IGI: Inferred from genetic interaction	24843546	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19877062	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

SNX19 Protein Structure

PXA

Nexin_C

0
200
400
600
800
992 a.a.

Protein Preferred Names

Protein Names

sorting nexin-19

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia, Autosomal Recessive 20

Autosomal Recessive Spinocerebellar Ataxia 20	SCAR20
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Autosomal Recessive Spinocerebellar Ataxia Type 20
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome	Spinocerebellar Ataxia, Autosomal Recessive, 20
Ataxia, Spinocerebellar, Autosomal Recessive, Type 20

Immunodeficiency 51

IMD51	Candf5
Candidiasis, Familial, 5	Candidiasis, Familial, 5, Formerly
Candf5, Formerly	Familial Candidiasis 5
Candidiasis Familial 5 Autosomal Recessive	Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive
Chronic Mucocutaneous Candidiasis 5

Jacobsen Syndrome

Chromosome 11q Deletion Syndrome	Partial 11q Monosomy Syndrome
Jacobsen Distal 11q Deletion Syndrome	JBS
11q Partial Monosomy Syndrome	Chromosome 11q Deletion
11q Deletion	11q Monosomy
Deletion 11q	Monosomy 11q
Partial Monosomy 11q	11q Deletion Disorder
11q Deletion Syndrome	11q Terminal Deletion Disorder
11q- Deletion Syndrome	11q23 Deletion Disorder
Jacobsen Thrombocytopenia	11q Terminal Deletion Syndrome
Del(11)(Q23.3)	Del(11)(Qter)
Distal Deletion 11q	Distal Monosomy 11q
Monosomy 11qter	Telomeric Deletion 11q
Paris-Trousseau Thrombocytopenia

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-RS13532	SNX19 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SNX19	VGNC	VGNC:77755
Bos taurus	SNX19	VGNC	VGNC:35099
Rattus norvegicus	SNX19	RGD	RGD:1309857
Mus musculus	SNX19	MGD	MGI:1921581
Canis familiaris	SNX19	VGNC	VGNC:46628
Felis catus	SNX19	VGNC	VGNC:65549

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