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FLASH GENE

Symbol

PAPSS2

contributors: npt/mct - updated : 10-10-2016

HGNC name	3'-phosphoadenosine 5'-phosphosulfate synthase 2
HGNC id	8604

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BCYM4 brachyolmia 4 SEMD4 spondyloepimetaphyseal dysplasia, type 4
Location	10q23.31      Physical location : 89.419.475 - 89.507.460
Synonym name	ATP sulfurylase/adenosine 5'-phosphosulfate kinase
	PAPS synthase 2
	bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthethase 2
Synonym symbol(s)	ATPSK2, SK2
EC.number	2.7.7.4, 2.7.1.25

DNA

TYPE	functioning gene
STRUCTURE	88.10 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	no putative TATA box and CCAAT box but possessed many GC boxes (Venkatachalam 2003)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001015880 13 - 3874 NP_001015880 - 619 - 2002 11931637 also called PAPS synthase 2a or variant 2 NM_004670 12 - 3874 NP_004661 - 614 - 2002 11931637 also called PAPS synthase 2b or variant 2 contains notably an extra five amino acid sequence GMALP

EXPRESSION

Rna function	the most significant levels of mRNA were found in condensing and proliferating chondrocytes
Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Homo sapiens Digestive mouth tongue       Homo sapiens Urinary kidney         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Homo sapiens Connective cartilage     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol not specific chondrocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	placenta, major variant in growth plate cartilage

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

intraspecies

homolog to PAPSS1 (77 p100)

Homologene

FAMILY

sulfate adenyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
text	PAPSS1 was predominantly nuclear, whereas PAPSS2 localised mainly within the cytoplasm

basic FUNCTION	catalyzing the activation of sulfate in two steps, synthesis of adenosine 5'-phosphosulfate and phosphorylation of APS to generate 3'-phospho-adenosine 5'-phosphosulfate (PAPS)
	may have a important role in skeletogenesis during postnatal growth
	may be having a important role of the gene product for cartilage growth and development
	might regulate osteoblast alkaline phosphates activity and cell mineralization, probably through Smads signal pathways

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

locomotion

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	coexpressed with PAPSS1
	enhanced PAPSS2/VCAN sulfation axis is essential for SNAI1-mediated breast cancer cell migration and metastasis

cell & other

REGULATION

induced by

during chondrogenesis

Other

regulated by extracellular signal-regulated protein kinase, protein kinase C, and p38 kinase, signaling molecules known to regulate chondrogenesis

ASSOCIATED DISORDERS

corresponding disease(s)

SEMD4 , BCYM4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation     loss of function PAPSS2 deficiency is a monogenic adrenocortical cause of androgen excess constitutional       loss of function causes androgen excess via impaired DHEA sulfation, and is associated with a phenotype resembling polycystic ovary syndrome

Susceptibility

to osteoarthritis(minor role in japanese)

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS