2. Gene
  3. PPIP5K2 - diphosphoinositol pentakisphosphate kinase 2 Gene

PPIP5K2 - diphosphoinositol pentakisphosphate kinase 2 Gene

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

中文名称：二磷酸肌醇五磷酸激酶 2

种属: Homo sapiens

同用名: VIP2; IP7K2; CFAP160; DFNB100; HISPPD1

基因 ID: 23262 | 基因类型: protein coding

关于 PPIP5K2

Cytogenetic location: 5q21.1 Genomic coordinates (GRCh38): 5:103,120,301-103,212,799 (from NCBI)

This gene has 18 transcripts (splice variants), 159 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 8.5), colon (RPKM 7.8) and 25 other tissues.

功能概要

该基因编码组氨酸酸性磷酸酶蛋白质家族的成员。尽管包含组氨酸酸性磷酸酶结构域，但编码的蛋白质起着肌醇焦磷酸激酶的作用，并且被认为缺乏磷酸酶活性。这种激酶活性是所编码的蛋白质合成高能肌醇焦磷酸的机制，它充当调节细胞稳态和其他过程的信号分子。该基因可能与人类患者的自闭症谱系障碍有关。[RefSeq 提供，2016 年 9 月]

This gene encodes a member of the histidine Acid Phosphatase family of proteins. Despite containing a histidine Acid Phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack Phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and Other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]

PPIP5K2 基因产物(11)

mRNA Protein Name
NM_001276277.3 NP_001263206.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 1
NM_001281471.3 NP_001268400.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 3
NM_001345871.2 NP_001332800.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 4
NM_001345872.2 NP_001332801.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 5
NM_001345873.2 NP_001332802.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 6
NM_001345874.2 NP_001332803.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 7
NM_001345875.2 NP_001332804.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 8
NM_001345876.2 NP_001332805.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 9
NM_001345877.2 NP_001332806.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 10
NM_001345878.2 NP_001332807.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 11
NM_015216.5 NP_056031.2 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 5-diphosphoinositol pentakisphosphate 1-kinase activity IDA
IDA: 通过直接分析推断
17690096 GOA
enables ATP binding IDA
IDA: 通过直接分析推断
22119861 GOA
enables inositol hexakisphosphate kinase activity IDA
IDA: 通过直接分析推断
17690096 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
17690096 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

PPIP5K2 蛋白结构

His_Phos_2

His_Phos_2: Histidine phosphatase superfamily (branch 2) (379 - 894)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1243 a.a.
蛋白主名 其他名称

inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2

VIP1 homolog 2

PPIP5K2 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
PPIP5K2 O43314 YWHAE Homo sapiens P62258
Crosslink
36931259
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
Deafness, Autosomal Recessive 100

DFNB100

Autosomal Recessive Nonsyndromic Deafness 100

Autosomal Recessive Deafness 100

Deafness, Autosomal Recessive, 100
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Proprotein Convertase 1/3 Deficiency

Obesity Due To Prohormone Convertase I Deficiency

Obesity With Impaired Prohormone Processing

Obesity And Endocrinopathy Due To Impaired Processing Of Prohormones

Pci Deficiency

Proprotein Convertase 1 3 Deficiency

Endocrinopathy Due To Proprotein Convertase 1/3 Deficiency

Proprotein Convertase 1 Deficiency

PC1 DEFICIENCY
Cutaneous Anthrax

Anthrax, Skin Type

Skin Anthrax
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Rapp-Hodgkin Syndrome

RHS

Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate

Ectodermal Dysplasia, Rapp-Hodgkin Type

Rapp-Hodgkin Ectodermal Dysplasia Syndrome

Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate

Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type

Edrh

Rapp-Hodgkin Ectodermal Dysplasia

Orofacial Cleft 8
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-RS10958 PPIP5K2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus PPIP5K2 VGNC VGNC:33207
Mus musculus PPIP5K2 MGD MGI:2142810
Felis catus PPIP5K2 VGNC VGNC:64310
Macaca mulatta PPIP5K2 VGNC VGNC:76128
Rattus norvegicus PPIP5K2 RGD RGD:1590765
Canis familiaris PPIP5K2 VGNC VGNC:44860
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