2. Gene
  3. PTPRN2 - protein tyrosine phosphatase receptor type N2 Gene

PTPRN2 - protein tyrosine phosphatase receptor type N2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：N2 型蛋白酪氨酸磷酸酶受体

种属: Homo sapiens

同用名: IAR; ICAAR; PTPRP; IA-2beta; R-PTP-N2

基因 ID: 5799 | 基因类型: protein coding

关于 PTPRN2

Cytogenetic location: 7q36.3 Genomic coordinates (GRCh38): 7:157,539,056-158,587,823 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 200 orthologues and 35 paralogues. Broad expression in brain (RPKM 7.2), stomach (RPKM 4.9) and 18 other tissues.

功能概要

该基因编码的蛋白质与受体样蛋白酪氨酸磷酸酶具有序列相似性。然而，该蛋白质的酪氨酸磷酸酶活性尚未经过实验验证。对大鼠直系同源物的研究表明，编码的蛋白质可能作为磷脂酰肌醇磷酸酶发挥作用，具有使磷脂酰肌醇 3-磷酸和磷脂酰肌醇 4,5-二磷酸去磷酸化的能力，并且该功能可能参与胰岛素分泌的调节。这种蛋白质已被鉴定为胰岛素依赖型糖尿病的自身抗原。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 2 月]

This gene encodes a protein with sequence similarity to receptor-like Protein tyrosine phosphatases. However, tyrosine Phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol Phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of Insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

PTPRN2 基因产物(5)

mRNA Protein Name
NM_001308267.2 NP_001295196.1 receptor-type tyrosine-protein phosphatase N2 isoform 4 precursor
NM_001308268.2 NP_001295197.1 receptor-type tyrosine-protein phosphatase N2 isoform 5
NM_002847.5 NP_002838.2 receptor-type tyrosine-protein phosphatase N2 isoform 1 precursor
NM_130842.4 NP_570857.2 receptor-type tyrosine-protein phosphatase N2 isoform 2 precursor
NM_130843.4 NP_570858.2 receptor-type tyrosine-protein phosphatase N2 isoform 3 precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of receptor complex IDA
IDA: 通过直接分析推断
23382219 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

PTPRN2 蛋白结构

RESP18

RESP18: RESP18 domain (73 - 137)

Receptor_IA-2

Receptor_IA-2: Protein-tyrosine phosphatase receptor IA-2 (508 - 597)

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (770 - 1004)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1015 a.a.
蛋白主名 其他名称

receptor-type tyrosine-protein phosphatase N2

IAR/receptor-like protein-tyrosine phosphatase

关联疾病

疾病名称 别名
Insulinoma

Islet Cell Adenoma

Insulin-Producing Tumor Of Islet Cells

Adenoma Islet Cell

Islet Cell Tumor

Experimental Organism Islet Cell Adenoma Neoplasm
Diabetes Mellitus

Diabetes
Type 1 Diabetes Mellitus 5

Diabetes Mellitus, Insulin-Dependent, 5

Latent Autoimmune Diabetes In Adults

IDDM5

Insulin-Dependent Diabetes Mellitus 5

T1D5

Lada

Type 1.5 Diabetes

Diabetes Mellitus, Insulin-Dependent, Type 5
Bleeding Disorder, Platelet-Type, 17

Platelet-Type Bleeding Disorder 17

BDPLT17

Thrombasthenia-Thrombocytopenia, Hereditary

Hereditary Thrombasthenia-Thrombocytopenia

Autosomal Dominant Macrothrombocytopenia Gfi1b-Related

Autosomal Dominant Platelet Disorder Gfi1b-Related

Bleeding Disorder, Platelet Type 17
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly

MARCH

Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly

Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome

Hydranencephaly With Renal Aplasia-Dysplasia

March Syndrome
Pancreatic Cystadenoma

Cystadenoma Of Pancreas
Type 1 Diabetes Mellitus 2

Diabetes Mellitus, Noninsulin-Dependent, 1

Diabetes Mellitus, Insulin-Dependent, 2

IDDM2

Insulin-Dependent Diabetes Mellitus 2

NIDDM1

Diabetes Mellitus, Noninsulin-Dependent 1

T1D2

Type 2 Diabetes Mellitus 1

T2D1

Noninsulin-Dependent Diabetes Mellitus 1

Diabetes Mellitus, Non-Insulin-Dependent, 1

Type 2 Diabetes Mellitus 1, Susceptibility To

Diabetes Mellitus, Insulin-Dependent, Type 2

Diabetes Mellitus, Non-Insulin-Dependent
Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications
Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11445 PTPRN2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PTPRN2 VGNC VGNC:45194
Mus musculus PTPRN2 MGD MGI:107418
Felis catus PTPRN2 VGNC VGNC:80666
Macaca mulatta PTPRN2 VGNC VGNC:84752
Bos taurus PTPRN2 VGNC VGNC:106884
Rattus norvegicus PTPRN2 RGD RGD:61904
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