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

PPIP5K2 - diphosphoinositol pentakisphosphate kinase 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as VIP2; IP7K2; CFAP160; DFNB100; HISPPD1

Gene ID: 23262 | Gene type: protein coding

About 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.

Summary

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 Products(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

PPIP5K2 Protein Structure

His_Phos_2

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

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  • 1243 a.a.
Protein Preferred Names Protein Names

inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2

VIP1 homolog 2

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10958 PPIP5K2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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