2. Gene
  3. PTPN23 - protein tyrosine phosphatase non-receptor type 23 Gene

PTPN23 - protein tyrosine phosphatase non-receptor type 23 Gene

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

中文名称：23 型蛋白酪氨酸磷酸酶非受体

种属: Homo sapiens

同用名: HDPTP; HD-PTP; NEDBASS; PTP-TD14

基因 ID: 25930 | 基因类型: protein coding

关于 PTPN23

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:47,381,021-47,413,435 (from NCBI)

This gene has 9 transcripts (splice variants), 205 orthologues, 35 paralogues and is associated with 2 phenotypes. Ubiquitous expression in spleen (RPKM 10.2), brain (RPKM 9.8) and 25 other tissues.

功能概要

该基因编码非受体型蛋白酪氨酸磷酸酶家族的成员。编码的蛋白质可能通过修饰存活运动神经元 (SMN) 复合体参与调节小核核糖核蛋白组装和 pre-mRNA 剪接。编码的蛋白质还在纤毛发生中发挥作用，并且是运输 (ESCRT) 通路所需的内体分选复合体的一部分。该基因可能具有肿瘤抑制功能。[RefSeq 提供，2016 年 7 月]

This gene encodes a member of the non-receptor type protein-tyrosine Phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]

PTPN23 基因产物(2)

mRNA Protein Name
NM_001304482.2 NP_001291411.1 tyrosine-protein phosphatase non-receptor type 23 isoform 2
NM_015466.4 NP_056281.1 tyrosine-protein phosphatase non-receptor type 23 isoform 1

PTPN23 蛋白结构

BRO1

BRO1: BRO1-like domain (8 - 382)

ALIX_LYPXL_bnd

ALIX_LYPXL_bnd: ALIX V-shaped domain binding to HIV (416 - 702)

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (1220 - 1450)

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  • 1636 a.a.
蛋白主名 其他名称

tyrosine-protein phosphatase non-receptor type 23

his domain-containing protein tyrosine phosphatase

关联疾病

疾病名称 别名
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity

NEDBASS
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
Toxic Diffuse Goiter
Spastic Paraplegia 80, Autosomal Dominant

SPG80

Hereditary Spastic Paraplegia 80

Spastic Paraplegia 80 Autosomal Dominant

Doid:0112341
Spastic Diplegia

Diplegic Infantile Cerebral Palsy

Little'S Disease

Cerebral Palsy

Cerebral Spastic Infantile Paralysis

Infantile Diplegic Cerebral Palsy

Infantile Spastic Cerebral Palsy

Littles Disease

Spastic Cerebral Palsy
Variegate Porphyria

Porphyria Variegata

Protoporphyrinogen Oxidase Deficiency

VP

Ppox Deficiency

Porphyria, South African Type

Porphyria Variegata, Susceptibility To

Protocoproporphyria

Porphyria Variegate

Porphyria South African Type

Pv

Porphyria, Variegate

Vp - [Variegate Porphyria]
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS11425 PTPN23 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PTPN23 VGNC VGNC:76477
Canis familiaris PTPN23 VGNC VGNC:54985
Felis catus PTPN23 VGNC VGNC:64431
Rattus norvegicus PTPN23 RGD RGD:619892
Bos taurus PTPN23 VGNC VGNC:33537
Mus musculus PTPN23 MGD MGI:2144837
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