ADSS2 (adenylosuccinate synthase 2)

Gene

• Entrez ID: 159
• Gene name: Adenylosuccinate synthase 2
• Gene symbol: ADSS2
• Synonyms (NCBI Gene): ADEH, ADSS, ADSS 2
• Chromosome: 1
• Chromosome location: 1q44
• Summary: This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0002376	Process	Immune system process	NAS	15786719
GO:0004019	Function	Adenylosuccinate synthase activity	IBA
GO:0004019	Function	Adenylosuccinate synthase activity	IDA	2004783
GO:0004019	Function	Adenylosuccinate synthase activity	IEA
GO:0004019	Function	Adenylosuccinate synthase activity	NAS	1592113
GO:0005515	Function	Protein binding	IPI	23455924, 24981860, 28514442, 33961781
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	NAS	1592113, 15786719
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006167	Process	AMP biosynthetic process	IDA	2004783
GO:0006167	Process	AMP biosynthetic process	IEA
GO:0006167	Process	AMP biosynthetic process	IEA
GO:0006167	Process	AMP biosynthetic process	NAS	1592113, 15786719
GO:0006531	Process	Aspartate metabolic process	IEA
GO:0014074	Process	Response to purine-containing compound	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0042301	Function	Phosphate ion binding	NAS	1592113, 15786719
GO:0044208	Process	'de novo' AMP biosynthetic process	IBA
GO:0044208	Process	'de novo' AMP biosynthetic process	IDA	27590927
GO:0044208	Process	'de novo' AMP biosynthetic process	IEA
GO:0046040	Process	IMP metabolic process	IBA
GO:0046040	Process	IMP metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060359	Process	Response to ammonium ion	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071257	Process	Cellular response to electrical stimulus	IEA

Other IDs

• MIM: 103060
• HGNC: 292
• e!Ensembl: ENSG00000035687

Protein

• UniProt ID: P30520
• Protein name: Adenylosuccinate synthetase isozyme 2 (AMPSase 2) (AdSS 2) (EC 6.3.4.4) (Adenylosuccinate synthetase, acidic isozyme) (Adenylosuccinate synthetase, liver isozyme) (L-type adenylosuccinate synthetase) (IMP--aspartate ligase 2)
• Protein function: Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.
• PDB: 2V40
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00709	Adenylsucc_synt	31 → 453	Adenylosuccinate synthetase	Domain

• Sequence:

  MAFAETYPAASSLPNGDCGRPRARPGGNRVTVVLGAQWGDEGKGKVVDLLAQDADIVCRC
  QGGNNAGHTVVVDSVEYDFHLLPSGIINPNVTAFIGNGVVIHLPGLFEEAEKNVQKGKGL
  EGWEKRLIISDRAHIVFDFHQAADGIQEQQRQEQAGKNLGTTKKGIGPVYSSKAARSGLR
  MCDLVSDFDGFSERFKVLANQYKSIYPTLEIDIEGELQKLKGYMEKIKPMVRDGVYFLYE
  ALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTVGGVCTGLGMPPQNVGEVYGVVKAY
  TTRVGIGAFPTEQDNEIGELLQTRGREFGVTTGRKRRCGWLDLVLLKYAHMINGFTALAL
  TKLDILDMFTEIKVGVAYKLDGEIIPHIPANQEVLNKVEVQYKTLPGWNTDISNARAFKE
  LPVNAQNYVRFIEDELQIPVKWIGVGKSRESMIQLF

• Sequence length: 456

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER'S DISEASE NEUROPATHOLOGIC CHANGE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	Pubtator	40133993	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	21255038, 23600999		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	21255038, 23600999		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	37884559	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	26411681		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19115993		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	19115993		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19115993		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19115993	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations