2. Gene
  3. PLCH2 - phospholipase C eta 2 Gene

PLCH2 - phospholipase C eta 2 Gene

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

中文名称：磷脂酶 Ceta 2

种属: Homo sapiens

同用名: PLCL4; PLC-L4; PLCeta2; PLC-eta2

基因 ID: 9651 | 基因类型: protein coding

关于 PLCH2

Cytogenetic location: 1p36.32 Genomic coordinates (GRCh38): 1:2,415,943-2,505,532 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 258 orthologues and 14 paralogues. Biased expression in skin (RPKM 13.2), brain (RPKM 3.0) and 10 other tissues.

功能概要

PLCH2 是磷酸肌醇特异性磷脂酶 C (PLC) 酶超家族的 PLC-eta 家族的成员，该酶裂解 PtdIns (4,5) P2 以产生第二信使肌醇 1,4,5-三磷酸和甘油二酯 (Zhou 等人., 2005 [PubMed 16107206]) .[OMIM 提供，2009 年 6 月]

PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific Phospholipase C (PLC) superfamily of Enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]

PLCH2 基因产物(3)

mRNA Protein Name
NM_001303012.2 NP_001289941.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 2
NM_001303013.1 NP_001289942.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 3
NM_014638.4 NP_055453.2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphatidylinositol phospholipase C activity IDA
IDA: 通过直接分析推断
18361507 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phospholipase C-activating G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
18361507 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

PLCH2 蛋白结构

EF-hand_7

EF-hand_7: EF-hand domain pair (174 - 235)

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (243 - 325)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (328 - 472)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (626 - 739)

C2

C2: C2 domain (760 - 851)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1416 a.a.
蛋白主名 其他名称

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2

phosphoinositide phospholipase C-eta-2

关联疾病

疾病名称 别名
Hypocalcemia, Autosomal Dominant 2

Autosomal Dominant Hypocalcemia 2

HYPOC2

Hypocalcemia, Autosomal Dominant, Type 2
Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter
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-RS10663 PLCH2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PLCH2 RGD RGD:1304675
Felis catus PLCH2 VGNC VGNC:80307
Canis familiaris PLCH2 VGNC VGNC:44654
Mus musculus PLCH2 MGD MGI:2443078
Bos taurus PLCH2 VGNC VGNC:32991
Macaca mulatta PLCH2 VGNC VGNC:76129
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