Version 5.4
| Mus musculus Gene: Papss2 | |||||||||||||||||||||||
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| Summary | |||||||||||||||||||||||
| InnateDB Gene | IDBG-158691.6 | ||||||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
| Gene Symbol | Papss2 | ||||||||||||||||||||||
| Gene Name | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | ||||||||||||||||||||||
| Synonyms | 1810018P12Rik; AI159688; Atpsk2; AtpsU2; bm; Sk2 | ||||||||||||||||||||||
| Species | Mus musculus | ||||||||||||||||||||||
| Ensembl Gene | ENSMUSG00000024899 | ||||||||||||||||||||||
| Encoded Proteins |
3'-phosphoadenosine 5'-phosphosulfate synthase 2
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000198682:
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] 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] |
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| Gene Information | |||||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||||
| Genomic Location | Chromosome 19:32620005-32667187 | ||||||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||||||
| Band | C1 | ||||||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||||||
| NETPATH | |||||||||||||||||||||||
| REACTOME |
Glycosaminoglycan metabolism pathway
Disease pathway
Transport and synthesis of PAPS pathway
MPS IV - Morquio syndrome B pathway
Cytosolic sulfonation of small molecules pathway
Phase II conjugation pathway
MPS IV - Morquio syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Diseases of glycosylation pathway
Defective CHSY1 causes TPBS pathway
Defective B3GAT3 causes JDSSDHD pathway
MPS II - Hunter syndrome pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS IX - Natowicz syndrome pathway
Glycogen storage diseases pathway
MPS VII - Sly syndrome pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Defective CHST3 causes SEDCJD pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Biological oxidations pathway
MPS IIIB - Sanfilippo syndrome B pathway
MPS IIIA - Sanfilippo syndrome A pathway
Defective PAPSS2 causes SEMD-PA pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Mucopolysaccharidoses pathway
Defective CHST6 causes MCDC1 pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Defective EXT2 causes exostoses 2 pathway
Defective SLC26A2 causes chondrodysplasias pathway
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| KEGG |
Sulfur metabolism pathway
Purine metabolism pathway
Selenocompound metabolism pathway
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| INOH | |||||||||||||||||||||||
| PID NCI | |||||||||||||||||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||||||||||||||||
| NETPATH | |||||||||||||||||||||||
| REACTOME |
Transport and synthesis of PAPS pathway
Cytosolic sulfonation of small molecules pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
Phase II conjugation pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
Biological oxidations pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
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| KEGG |
Purine metabolism pathway
Selenocompound metabolism pathway
Sulfur metabolism pathway
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| INOH |
Purine nucleotides nucleosides metabolism pathway
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| PID NCI | |||||||||||||||||||||||
| Cross-References | |||||||||||||||||||||||
| SwissProt | O88428 | ||||||||||||||||||||||
| TrEMBL | |||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||
| Entrez Gene | 23972 | ||||||||||||||||||||||
| UniGene | Mm.203916 Mm.392978 | ||||||||||||||||||||||
| RefSeq | NM_001201470 NM_011864 XM_006527064 XM_006527065 | ||||||||||||||||||||||
| OMIM | |||||||||||||||||||||||
| CCDS | CCDS37960 | ||||||||||||||||||||||
| HPRD | |||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||
| MGI ID | MGI:1330223 | ||||||||||||||||||||||
| MGI Symbol | Papss2 | ||||||||||||||||||||||
| EMBL | AF052453 AF085144 BC090997 | ||||||||||||||||||||||
| GenPept | AAC40191 AAC98687 AAH90997 | ||||||||||||||||||||||
| RNA Seq Atlas | 23972 | ||||||||||||||||||||||