PRPS2 - phosphoribosyl pyrophosphate synthetase 2 Gene

Homo sapiens

Also known as PRSII

Gene ID: 5634 | Gene type: protein coding

About PRPS2

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:12,791,412-12,824,222 (from NCBI)

This gene has 5 transcripts (splice variants), 302 orthologues and 4 paralogues. Broad expression in testis (RPKM 94.5), adrenal (RPKM 26.5) and 22 other tissues.

Summary

This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

PRPS2 Products(2)

mRNA	Protein	Name
NM_001039091.3	NP_001034180.1	ribose-phosphate pyrophosphokinase 2 isoform 1
NM_002765.5	NP_002756.1	ribose-phosphate pyrophosphokinase 2 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	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

PRPS2 Protein Structure

Pribosyltran_N

Pribosyl_synth

0
100
200
300
318 a.a.

Protein Preferred Names

Protein Names

ribose-phosphate pyrophosphokinase 2

PPRibP synthetase

Recombinant PRPS2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71108	PRPS2 Protein, Human (HEK293, His)	P11908 (P2-L318)	≥95%
HY-P77156	PRPS2 Protein, Human (His)	P11908-1 (M1-L318)	≥95%

Related Diseases

Diseases

Alias

Arts Syndrome

ARTS	Mrxsarts
Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision	Mrxs18
Lethal Ataxia With Deafness And Optic Atrophy	Fatal X-Linked Ataxia With Deafness And Loss Of Vision
Mental Retardation, X-Linked, Syndromic, Arts Type	Mental Retardation, X-Linked, Syndromic 18
Syndromic X-Linked Mental Retardation 18	Syndromic X-Linked Mental Retardation Arts Type
Lethal Ataxia-Deafness-Optic Atrophy	X-Linked Fatal Ataxia With Deafness And Loss Of Vision
Ataxia-Deafness-Optic Atrophy, Lethal	Lethal Ataxia With Hearing Loss And Optic Atrophy
Art

Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

CMTX5	Rosenberg-Chutorian Syndrome
Charcot-Marie-Tooth Disease X-Linked Recessive 5	Optic Atrophy, Polyneuropathy, And Deafness
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5	Cmt5x
X-Linked Charcot-Marie-Tooth Disease Type 5	Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5
Optic Atrophy Polyneuropathy Deafness	Optic Atrophy With Polyneuropathy And Deafness
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5

Deafness, X-Linked 1

DFNX1	Dfn2
Deafness, X-Linked 2, Sensorineural Congenital	X-Linked Deafness 1
X-Linked Sensorineural Congenital Deafness 2	Deafness, X-Linked, 1
Congenital Sensorineural Deafness X-Linked 2	Deafness, X-Linked, Type 1

Childhood B-Cell Acute Lymphoblastic Leukemia

B-Cell Childhood Acute Lymphoblastic Leukemia

Phosphoribosylpyrophosphate Synthetase Superactivity

PRPS1 SUPERACTIVITY	Prpp Synthetase Superactivity
Gout, Prps-Related	Prpp Synthetase Deficiency
Prpp Synthetase Overactivity	Prs Overactivity
Prs Superactivity	Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Mild Prpp Synthetase Superactivity	Mild Prps1 Superactivity
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Severe Prpp Synthetase Superactivity
Severe Prps1 Superactivity	Prps-Related Gout
Superactivity, Phosphoribosylpyrophosphate Synthetase

Charcot-Marie-Tooth Disease Type X

X-Linked Nonsyndromic Deafness

X-Linked Deafness

Deafness, X-Linked

Retinitis Pigmentosa 19

RP19	Retinitis Pigmentosa-19
Retinitis Pigmentosa, Type 19

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Syndromic Intellectual Disability

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-RS11220	PRPS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PRPS2	RGD	RGD:3415
Mus musculus	PRPS2	MGD	MGI:97776
Macaca mulatta	PRPS2	VGNC	VGNC:103849
Bos taurus	PRPS2	VGNC	VGNC:56950
Canis familiaris	PRPS2	VGNC	VGNC:45033
Others	PRPS2	NCBI

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