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  2. SNX19 - sorting nexin 19 Gene

SNX19 - sorting nexin 19 Gene

中文名称:排序 nexin 19

种属: Homo sapiens

同用名: CHET8

基因 ID: 399979 | 基因类型: protein coding

关于 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.

功能概要

胰岛抗原 2 (IA-2) 是 1 型糖尿病的自身抗原,在胰岛素分泌中发挥作用。 IA-2 存在于致密核心分泌囊泡中,并与该基因的产物 (一种分选连接蛋白) 相互作用。在小鼠胰腺 β 细胞中,编码的蛋白质通过稳定致密核心分泌囊泡的数量来影响胰岛素分泌。[RefSeq 提供,2016 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16273344 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chondrocyte differentiation IMP
IMP: 通过突变表型推断
19877062 GOA
involved in dense core granule maturation IGI
IGI: 通过遗传相互作用推断
24843546 GOA
involved in insulin secretion IGI
IGI: 通过遗传相互作用推断
24843546 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
19877062 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SNX19 蛋白结构

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.
蛋白主名 其他名称

sorting nexin-19

SNX19 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SNX19 Q92543 PTPRN Homo sapiens Q16849
Y2H
16273344
种属内
SNX19 Q92543 PTPRN Homo sapiens Q16849 16273344
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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