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

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference 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

APS_kinase: Adenylylsulphate kinase (41 - 196)

PUA_2

PUA_2: PUA-like domain (222 - 375)

ATP-sulfurylase

ATP-sulfurylase: ATP-sulfurylase (384 - 608)

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  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10031 PAPSS2 Human Pre-designed siRNA Set A Pre-designed Sets / 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