1. Gene
  2. PPT2 - palmitoyl-protein thioesterase 2 Gene

PPT2 - palmitoyl-protein thioesterase 2 Gene

中文名称:棕榈酰蛋白硫酯酶 2

种属: Homo sapiens

同用名: G14; PPT-2; C6orf8

基因 ID: 9374 | 基因类型: protein coding

关于 PPT2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,153,528-32,163,675 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 282 orthologues and 2 paralogues. Ubiquitous expression in ovary (RPKM 15.5), placenta (RPKM 11.9) and 25 other tissues.

功能概要

该基因编码棕榈酰蛋白硫酯酶家族的一个成员。编码的糖基化溶酶体蛋白在体外具有棕榈酰辅酶 A 水解酶活性,但不会从蛋白质中的半胱氨酸残基中水解棕榈酸。可变剪接导致多个转录本变体。该基因与下游 EGFL8 (EGF 样结构域,多个 8) 基因之间也存在通读转录。[RefSeq 提供,2011 年 2 月]

This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]

PPT2 基因产物(3)

mRNA Protein Name
NM_001204103.2 NP_001191032.1 lysosomal thioesterase PPT2 isoform a precursor
NM_005155.7 NP_005146.4 lysosomal thioesterase PPT2 isoform a precursor
NM_138717.3 NP_619731.2 lysosomal thioesterase PPT2 isoform b precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables palmitoyl hydrolase activity IDA
IDA: 通过直接分析推断
10417332 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

PPT2 蛋白结构

Palm_thioest

Palm_thioest: Palmitoyl protein thioesterase (37 - 275)

  • 0
  • 100
  • 200
  • 302 a.a.
蛋白主名 其他名称

lysosomal thioesterase PPT2

S-thioesterase G14

关联疾病

疾病名称 别名
Neurotrophic Keratoconjunctivitis
Alzheimer Disease 9

AD9

Alzheimer'S Disease 9

Alzheimer Disease 9, Susceptibility To

Alzheimer Disease 9, Late-Onset

Alzheimer'S Disease 9, Late Onset

{Alzheimer Disease 9, Susceptibility To}

Giardiasis

Beaver Feaver

Infection By Giardia Lamblia

Lambliasis

Giardia Lamblia Dysentery

Giardial Diarrhoea

Lamblia Dysentery

Giardia Duodenalis Dysentery

Giardia Intestinalis Dysentery

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

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
Felis catus PPT2 VGNC VGNC:102491
Mus musculus PPT2 MGD MGI:1860075
Bos taurus PPT2 VGNC VGNC:57311
Rattus norvegicus PPT2 RGD RGD:620375
Canis familiaris PPT2 VGNC VGNC:44930