1. Gene
  2. PITPNM2 - phosphatidylinositol transfer protein membrane associated 2 Gene

PITPNM2 - phosphatidylinositol transfer protein membrane associated 2 Gene

中文名称:磷脂酰肌醇转运蛋白膜相关 2

种属: Homo sapiens

同用名: NIR3; NIR-3; RDGB2; RDGBA2

基因 ID: 57605 | 基因类型: protein coding

关于 PITPNM2

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:122,983,480-123,151,848 (from NCBI)

This gene has 8 transcripts (splice variants), 266 orthologues and 5 paralogues. Ubiquitous expression in ovary (RPKM 9.1), brain (RPKM 5.5) and 24 other tissues.

功能概要

PITPNM2 属于膜相关磷脂酰肌醇转移结构域蛋白家族,与果蝇视网膜变性 B (rdgB) 蛋白具有同源性 (Ocaka 等人,2005 [PubMed 15627748]) 。[OMIM 提供,2008 年 3 月]

PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]

PITPNM2 基因产物(11)

mRNA Protein Name
NM_001300801.2 NP_001287730.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 2
NM_001384660.1 NP_001371589.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 3
NM_001384661.1 NP_001371590.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 4
NM_001384662.1 NP_001371591.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 6
NM_001384663.1 NP_001371592.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 4
NM_001384664.1 NP_001371593.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 7
NM_001384665.1 NP_001371594.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 8
NM_001384666.1 NP_001371595.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 8
NM_001384667.1 NP_001371596.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 8
NM_001384668.1 NP_001371597.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 2
NM_020845.3 NP_065896.1 membrane-associated phosphatidylinositol transfer protein 2 isoform 1
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 calcium ion binding IDA
IDA: 通过直接分析推断
10022914 GOA
enables phosphatidylinositol transfer activity IDA
IDA: 通过直接分析推断
10022914 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10022914 GOA
enables receptor tyrosine kinase binding IMP
IMP: 通过突变表型推断
10022914 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

PITPNM2 蛋白结构

IP_trans

IP_trans: Phosphatidylinositol transfer protein (1 - 253)

DDHD

DDHD: DDHD domain (715 - 963)

LNS2

LNS2: LNS2 (Lipin/Ned1/Smp2) (1108 - 1238)

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  • 1349 a.a.
蛋白主名 其他名称

membrane-associated phosphatidylinositol transfer protein 2

PYK2 N-terminal domain-interacting receptor 3

关联疾病

疾病名称 别名
Retinal Degeneration

Degeneration Of Retina

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 PITPNM2 VGNC VGNC:75843
Rattus norvegicus PITPNM2 RGD RGD:1310867
Felis catus PITPNM2 VGNC VGNC:64188
Canis familiaris PITPNM2 VGNC VGNC:44587
Mus musculus PITPNM2 MGD MGI:1336192
Bos taurus PITPNM2 VGNC VGNC:32922