PPIP5K2 - diphosphoinositol pentakisphosphate kinase 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23262

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 5-diphosphoinositol pentakisphosphate 1-kinase activity	IDA IDA: Inferred from direct assay	17690096	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	22119861	GOA
enables inositol hexakisphosphate kinase activity	IDA IDA: Inferred from direct assay	17690096	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	17690096	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PPIP5K2 Protein Structure

His_Phos_2

0
200
400
600
800
1000
1243 a.a.

Protein Preferred Names	Protein Names
inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2	VIP1 homolog 2

PPIP5K2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PPIP5K2	O43314	YWHAE	Homo sapiens	P62258	Crosslink	36931259

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	PPIP5K2	NCBI