2. Gene
  3. PTDSS2 - phosphatidylserine synthase 2 Gene

PTDSS2 - phosphatidylserine synthase 2 Gene

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

中文名称：磷脂酰丝氨酸合酶 2

种属: Homo sapiens

同用名: PSS2

基因 ID: 81490 | 基因类型: protein coding

关于 PTDSS2

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:448,268-491,399 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 198 orthologues and 1 paralogue. Broad expression in testis (RPKM 10.7), kidney (RPKM 4.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质催化磷脂酰乙醇胺转化为磷脂酰丝氨酸，磷脂酰丝氨酸是一种在细胞信号传导、血液凝固和细胞凋亡中起作用的结构膜磷脂。编码的酶还对二十二碳六烯酸 (DHA) 具有高亲和力，可以用它来制造含 DHA 的磷脂酰丝氨酸。[RefSeq 提供，2016 年 7 月]

The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and Apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016]

PTDSS2 基因产物(4)

mRNA Protein Name
NM_001329544.2 NP_001316473.1 phosphatidylserine synthase 2 isoform 1
NM_001329545.2 NP_001316474.1 phosphatidylserine synthase 2 isoform 3
NM_001329548.2 NP_001316477.1 phosphatidylserine synthase 2 isoform 4 precursor
NM_030783.3 NP_110410.1 phosphatidylserine synthase 2 isoform 2
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 L-serine-phosphatidylethanolamine phosphatidyltransferase activity IDA
IDA: 通过直接分析推断
19014349 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylserine biosynthetic process IDA
IDA: 通过直接分析推断
19014349 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

PTDSS2 蛋白结构

PSS

PSS: Phosphatidyl serine synthase (120 - 400)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 487 a.a.
蛋白主名 其他名称

phosphatidylserine synthase 2

PSS-2

PTDSS2 抗体

目录号 产品名 应用 反应物种
HY-P82025 PSS2 Antibody (YA1770) WB, IP Human
HY-P86281 PSS2 Antibody (YA5973) WB, FC, IP Human

关联疾病

疾病名称 别名
Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Syndrome

Lenz Majewski Hyperostotic Dwarfism

LMHD

Hyperostotic Dwarfism Lenz-Majewski Type

Lenz-Majewski Hyperostotic Dysplasia

Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis

Lms
Neuronopathy, Distal Hereditary Motor, Type Viia

HMN7A

Hmn Viia

Dhmn7a

Neuropathy, Distal Hereditary Motor, Type Viia

Dhmnvp

Harper-Young Myopathy

Distal Hereditary Motor Neuronopathy Type 7a

Distal Hereditary Motor Neuropathy Type Viia

Neuronopathy, Distal Hereditary Motor, Type 7a

Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7a

Harper-Young Myopath

Neuronopathy, Distal Hereditary Motor, 7a

Distal Hereditary Motor Neuronopathy Type Viia

Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Neuropathy, Motor, Distal, Hereditary, Type Viia
Myasthenic Syndrome, Congenital, 20, Presynaptic

Congenital Myasthenic Syndrome 20

CMS20

Congenital Myasthenic Syndrome 20 Presynaptic

Myasthenic Syndrome, Congenital, Type 20, Presynaptic
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-157562 DS68591889 99.18% 否
HY-RS11362 PTDSS2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PTDSS2 VGNC VGNC:45137
Bos taurus PTDSS2 VGNC VGNC:106882
Felis catus PTDSS2 VGNC VGNC:64427
Rattus norvegicus PTDSS2 RGD RGD:1307914
Mus musculus PTDSS2 MGD MGI:1351664
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