SNX19 - sorting nexin 19 Gene

Also Known as CHET8

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 399979

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
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
16273344 GOA
Biological Process GO Annotation Evidence 参考文献 由来
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 参考文献 由来
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

PXA: PXA domain (96 - 270)

PX

PX: PX domain (539 - 657)

Nexin_C

Nexin_C: Sorting nexin C terminal (838 - 946)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 992 a.a.
Protein Preferred Names Protein Names

sorting nexin-19

SNX19 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
SNX19 Q92543 PTPRN Homo sapiens Q16849
Y2H
16273344
Intra
SNX19 Q92543 PTPRN Homo sapiens Q16849 16273344
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

生物種 Symbol 由来 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
Others SNX19 NCBI