1. Gene
  2. SNX19 - sorting nexin 19 Gene

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

SNX19 Protein Structure

PXA

PXA: PXA domain (96 - 270)

PX

PX: PX domain (539 - 657)

Nexin_C

Nexin_C: Sorting nexin C terminal (838 - 946)

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  • 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

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