1. Gene
  2. P4HA2 - prolyl 4-hydroxylase subunit alpha 2 Gene

P4HA2 - prolyl 4-hydroxylase subunit alpha 2 Gene

中文名称:脯氨酰 4-羟化酶亚基 α 2

种属: Homo sapiens

同用名: MYP25; lncRNA-PE

基因 ID: 8974 | 基因类型: protein coding

关于 P4HA2

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,190,147-132,227,853 (from NCBI)

This gene has 21 transcripts (splice variants), 215 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lung (RPKM 10.5), kidney (RPKM 10.5) and 24 other tissues.

功能概要

该基因编码脯氨酰 4-羟化酶的一个成分,脯氨酰 4-羟化酶是胶原蛋白合成中的一种关键酶,由两个相同的 α 亚基和两个 β 亚基组成。编码的蛋白质是几种不同类型的 alpha 亚基之一,并提供活性酶催化位点的主要部分。在胶原蛋白和相关蛋白质中,脯氨酰 4-羟化酶催化 4-羟脯氨酸的形成,这对于新合成的前胶原链的正确三维折叠至关重要。已经描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a component of prolyl 4-hydroxylase, a key Enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active Enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

P4HA2 基因产物(9)

mRNA Protein Name
NM_001017974.2 NP_001017974.1 prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor
NM_001142598.2 NP_001136070.1 prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor
NM_001142599.2 NP_001136071.1 prolyl 4-hydroxylase subunit alpha-2 isoform 1 precursor
NM_001365677.2 NP_001352606.1 prolyl 4-hydroxylase subunit alpha-2 isoform 1 precursor
NM_001365678.2 NP_001352607.1 prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor
NM_001365679.2 NP_001352608.1 prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor
NM_001365680.2 NP_001352609.1 prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor
NM_001365681.2 NP_001352610.1 prolyl 4-hydroxylase subunit alpha-2 isoform 3 precursor
NM_004199.3 NP_004190.1 prolyl 4-hydroxylase subunit alpha-2 isoform 1 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 procollagen-proline 4-dioxygenase activity IDA
IDA: 通过直接分析推断
9211872 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

P4HA2 蛋白结构

P4Ha_N

P4Ha_N: Prolyl 4-Hydroxylase alpha-subunit, N-terminal region (25 - 157)

2OG-FeII_Oxy

2OG-FeII_Oxy: 2OG-Fe(II) oxygenase superfamily (413 - 519)

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  • 500
  • 535 a.a.
蛋白主名 其他名称

prolyl 4-hydroxylase subunit alpha-2

4-PH alpha 2

P4HA2 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
P4HA2 O15460 KIF7 Homo sapiens Q2M1P5
Anti Tag CoIP
33961781
种属内
P4HA2 O15460 P4HB Homo sapiens P07237
Crosslink
30021884
种属内
P4HA2 O15460 P4HB Homo sapiens P07237
Anti Tag CoIP
33961781
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
Myopia 25, Autosomal Dominant

MYP25

Temporal Arteritis

Polymyalgia Rheumatica

Giant Cell Arteritis

Cranial Arteritis

Horton Disease

Gca

Horton'S Disease

Rhizomelic Pseudopolyarthritis

Arteritis Cranialis

Arteritis Temporalis

Horton'S Arteritis

Horton'S Giant Cell Arteritis

Horton'S Temporal Arteritis

Horton'S Syndrome

Gca - [Giant Cell Arteritis]

Senile Arthritis

Polymyalgia Arteritica

Pmr - [Polymyalgia Rheumatica]

Forestier-Certonciny Syndrome

Rheumatic Polymyalgia

Polymyalgia

Breast Scirrhous Carcinoma

Infiltrating Carcinoma Of Breast With Fibrotic Stroma

Scirrhous Carcinoma Of Breast

Refractive Error

Refractive Errors

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Osteogenesis Imperfecta, Type Viii

Osteogenesis Imperfecta Type 8

OI8

Osteogenesis Imperfecta Type Viii

Oi Type Viii

Oi, Type Viii

Osteogenesis Imperfecta 8

Oi-Viii

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
Bos taurus P4HA2 VGNC VGNC:32536
Felis catus P4HA2 VGNC VGNC:68677
Macaca mulatta P4HA2 VGNC VGNC:75742
Canis familiaris P4HA2 VGNC VGNC:44223
Mus musculus P4HA2 MGD MGI:894286
Rattus norvegicus P4HA2 RGD RGD:1309673