• Gene id: 159

Gene Summary

• Gene Symbol: ADSS2   Gene   UCSC   Ensembl
• Aliases: ADEH, ADSS, ADSS 2
• Gene name: adenylosuccinate synthase 2
• Alternate names: adenylosuccinate synthetase isozyme 2, AMPSase 2, IMP--aspartate ligase 2, L-type adenylosuccinate synthetase, adSS 2, adenylosuccinate synthetase (Ade(-)H-complementing), adenylosuccinate synthetase, acidic isozyme, adenylosuccinate synthetase, liver isozyme, ep,
• Gene location: 1q44 (39244981: 39223358)     Exons: 8     NC_000022.11
• Gene summary(Entrez): 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]
• OMIM: 103060

SNPs

rs147088100

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70853248G>A
NC_000023.10   g.70073098G>A
NG_012574.2   g.60470C>T
NG_012574.1   g.60470C>T
NM_031276.2   c.405C>T
NM_031276.3   c.405C>T
NM_001003811.1   c.450C>T
NM_001003811.2   c.450C>T
XM_011530994.1   c.405C>T
XM_017029649.1   c.405C>T|SEQ=[G/A]|GE

rs143246552

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70853093T>C
NC_000023.10   g.70072943T>C
NG_012574.2   g.60625A>G
NG_012574.1   g.60625A>G
NM_031276.3   c.466A>G
NM_031276.2   c.466A>G
NM_001003811.2   c.511A>G
NM_001003811.1   c.511A>G
XM_011530994.1   c.466A>G
XM_017029649.1   c.466A>G
NP_112566.2  

rs140984555

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70605421C>T
NC_000023.10   g.69825271C>T
NG_012574.2   g.308297G>A
NG_012574.1   g.308297G>A
NM_031276.2   c.2047G>A
NM_031276.3   c.2047G>A
NM_001003811.1   c.2092G>A
NM_001003811.2   c.2092G>A
XM_017029652.2   c.856G>A
XM_011530994.1   c.2047G>A
XM_01  

rs6525433

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70853309T>C
NC_000023.10   g.70073159T>C
NG_012574.2   g.60409A>G
NG_012574.1   g.60409A>G
NM_031276.3   c.344A>G
NM_031276.2   c.344A>G
NM_001003811.2   c.389A>G
NM_001003811.1   c.389A>G
XM_011530994.1   c.344A>G
XM_017029649.1   c.344A>G
NP_112566.2  

rs4844247

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70670451C>T
NC_000023.10   g.69890301C>T
NG_012574.2   g.243267G>A
NG_012574.1   g.243267G>A
NM_031276.3   c.1306G>A
NM_031276.2   c.1306G>A
NM_001003811.2   c.1351G>A
NM_001003811.1   c.1351G>A
XM_017029652.2   c.115G>A
XM_011530994.1   c.1306G>A
XM_01  

Protein Summary

• Protein general information: P30520  
  • 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)
  • Length: 456  
  • Mass: 50097
• Sequence:

  MAFAETYPAASSLPNGDCGRPRARPGGNRVTVVLGAQWGDEGKGKVVDLLAQDADIVCRCQGGNNAGHTVVVDSV
  EYDFHLLPSGIINPNVTAFIGNGVVIHLPGLFEEAEKNVQKGKGLEGWEKRLIISDRAHIVFDFHQAADGIQEQQ
  RQEQAGKNLGTTKKGIGPVYSSKAARSGLRMCDLVSDFDGFSERFKVLANQYKSIYPTLEIDIEGELQKLKGYME
  KIKPMVRDGVYFLYEALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTVGGVCTGLGMPPQNVGEVYGVVKAY
  TTRVGIGAFPTEQDNEIGELLQTRGREFGVTTGRKRRCGWLDLVLLKYAHMINGFTALALTKLDILDMFTEIKVG
  VAYKLDGEIIPHIPANQEVLNKVEVQYKTLPGWNTDISNARAFKELPVNAQNYVRFIEDELQIPVKWIGVGKSRE
  SMIQLF

• Structural information:
  • Interpro: IPR018220  IPR033128  IPR042109  IPR042110  IPR042111   IPR001114  IPR027529  IPR027417  
  • Prosite: PS01266 PS00513
  • CDD: cd03108
  • PDB: 2V40
  • PDBsum: 2V40
  • STRING: ENSP00000355493
• Other Databases: GeneCards:  ADSS2  Malacards:  ADSS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044208	'de novo' AMP biosynthetic process	IBA	biological process
GO:0046040	IMP metabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004019	adenylosuccinate synthase activity	IBA	molecular function
GO:0005739	mitochondrion	ISS	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0004019	adenylosuccinate synthase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0006167	AMP biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004019	adenylosuccinate synthase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006531	aspartate metabolic process	IEA	biological process
GO:0004019	adenylosuccinate synthase activity	IEA	molecular function
GO:0014074	response to purine-containing compound	IEA	biological process
GO:0046040	IMP metabolic process	IEA	biological process
GO:0060359	response to ammonium ion	IEA	biological process
GO:0071257	cellular response to electrical stimulus	IEA	biological process
GO:0004019	adenylosuccinate synthase activity	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0006167	AMP biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0004019	adenylosuccinate synthase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0044208	'de novo' AMP biosynthetic process	IEA	biological process
GO:0006167	AMP biosynthetic process	IDA	biological process
GO:0004019	adenylosuccinate synthase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005525	GTP binding	NAS	molecular function
GO:0002376	immune system process	NAS	biological process
GO:0006167	AMP biosynthetic process	NAS	biological process
GO:0042301	phosphate ion binding	NAS	molecular function
GO:0042301	phosphate ion binding	NAS	molecular function
GO:0005525	GTP binding	NAS	molecular function
GO:0006167	AMP biosynthetic process	NAS	biological process
GO:0004019	adenylosuccinate synthase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00250	Alanine, aspartate and glutamate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R