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

Homo sapiens

Also known as SK2; BCYM4; ATPSK2

Gene ID: 9060 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10031	PAPSS2 Human Pre-designed siRNA Set A		/	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

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