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PAPSS2 - 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Gene

Also Known as SK2; BCYM4; ATPSK2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9060

About PAPSS2

Cytogenetic location: 10q23.2-q23.31 Genomic coordinates (GRCh38): 10:87,659,878-87,747,705 (from NCBI)

This gene has 4 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in adrenal (RPKM 79.2), lung (RPKM 47.5) and 18 other tissues.

Summary

Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

PAPSS2 Products (2)

mRNA	Protein	Name
NM_001015880.2	NP_001015880.1	bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform b
NM_004670.4	NP_004661.2	bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process	IMP IMP: Inferred from mutant phenotype	23824674	GOA
involved in hormone metabolic process	IMP IMP: Inferred from mutant phenotype	19474428	GOA
involved in sulfate assimilation	IMP IMP: Inferred from mutant phenotype	19474428	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

PAPSS2 Protein Structure

APS_kinase

PUA_2

ATP-sulfurylase

0
100
200
300
400
500
614 a.a.

Protein Preferred Names	Protein Names
bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2	3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2

PAPSS2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PAPSS2	O95340	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	PAPSS2	O95340	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	PAPSS2	O95340	PAPSS1	Homo sapiens	O43252	Anti Tag CoIP	33961781
Intra	PAPSS2	O95340	CEP19	Homo sapiens	Q96LK0	Y2H Array	32296183
Intra	PAPSS2	O95340	CEP19	Homo sapiens	Q96LK0	Y2H Prey Pooling	32296183
Intra	PAPSS2	O95340	CEP19	Homo sapiens	Q96LK0	Validated Y2H	32296183
Intra	PAPSS2	O95340	OPTN	Homo sapiens	Q96CV9	Validated Y2H	32814053
Intra	PAPSS2	O95340	OPTN	Homo sapiens	Q96CV9	Y2H Array	32814053
Intra	PAPSS2	O95340	OPTN	Homo sapiens	Q96CV9	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Spondyloepimetaphyseal Dysplasia, Pakistani Type Spondyloepimetaphyseal Dysplasia, Papss2 Type BCYM4 Semd, Pakistani Type Spondylodysplasia And Premature Pubarche Brachyolmia 4 With Mild Epiphyseal And Metaphyseal Changes Spondyloepimetaphyseal Dysplasia Pakistani Type Semd Pakistani Type Spondylometaepiphyseal Dysplasia Pakistani Type Brachyolmia, Type 4, With Mild Epiphyseal And Metaphyseal Changes
Autosomal Recessive Brachyolmia	Brachyolmia, Hobaek/Toledo Type
Brachyolmia	Brachyrachia
Spondyloepimetaphyseal Dysplasia	Dysplasia, Spondyloepimetaphyseal
Achondrogenesis, Type Ib	ACG1B Achondrogenesis Type Ib Achondrogenesis Type 1b Achondrogenesis Ib Achondrogenesis Fraccaro Type Achondrogenesis, Fraccaro Type Achondrogenesis, Parenti-Fraccaro Type Achondrogenesis 1b Acg-Ib Fraccaro Achondrogenesis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Cortisone Reductase Deficiency	11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of Cortrd Hsd 11b1 Deficiency
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Atelosteogenesis	Atelosteogenesis, Type 1
Klippel-Feil Syndrome 1
Brachydactyly
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome

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 (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS10031	PAPSS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20576	Papss2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27084	Papss2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PAPSS2	VGNC	VGNC:49936
Mus musculus	PAPSS2	MGD	MGI:1330223
Bos taurus	PAPSS2	VGNC	VGNC:32574
Rattus norvegicus	PAPSS2	RGD	RGD:1307012
Felis catus	PAPSS2	VGNC	VGNC:68694
Macaca mulatta	PAPSS2	VGNC	VGNC:75758
Others	PAPSS2	NCBI