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] See more...

Aliases for ADSS2 Gene

Aliases for ADSS2 Gene

  • Adenylosuccinate Synthase 2 2 3
  • Adenylosuccinate Synthetase, Acidic Isozyme 3 4
  • Adenylosuccinate Synthetase, Liver Isozyme 3 4
  • Adenylosuccinate Synthetase Isozyme 2 3 4
  • L-Type Adenylosuccinate Synthetase 3 4
  • Adenylosuccinate Synthase 2 5
  • IMP--Aspartate Ligase 2 3 4
  • EC 6.3.4.4 4 54
  • AMPSase 2 3 4
  • AdSS 2 3 4
  • ADSS 3 5
  • Adenylosuccinate Synthetase (Ade(-)H-Complementing) 3
  • Epididymis Secretory Sperm Binding Protein 3
  • ADSS 2 3
  • ADEH 3

External Ids for ADSS2 Gene

Previous HGNC Symbols for ADSS2 Gene

  • ADSS

Summaries for ADSS2 Gene

Entrez Gene Summary for ADSS2 Gene

  • 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]

GeneCards Summary for ADSS2 Gene

ADSS2 (Adenylosuccinate Synthase 2) is a Protein Coding gene. Among its related pathways are Metabolism of nucleotides and Nucleotide Metabolism. An important paralog of this gene is ADSS1.

UniProtKB/Swiss-Prot Summary for ADSS2 Gene

  • 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.

Additional gene information for ADSS2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADSS2 Gene

Genomics for ADSS2 Gene

GeneHancer (GH) Regulatory Elements for ADSS2 Gene

Promoters and enhancers for ADSS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADSS2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ADSS2 Gene

Genomic Locations for ADSS2 Gene
chr1:244,408,492-244,452,134
(GRCh38/hg38)
Size:
43,643 bases
Orientation:
Minus strand
chr1:244,571,794-244,615,436
(GRCh37/hg19)
Size:
43,643 bases
Orientation:
Minus strand

Genomic View for ADSS2 Gene

Genes around ADSS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADSS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADSS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADSS2 Gene

Proteins for ADSS2 Gene

  • Protein details for ADSS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30520-PURA2_HUMAN
    Recommended name:
    Adenylosuccinate synthetase isozyme 2
    Protein Accession:
    P30520
    Secondary Accessions:
    • B1AQM5
    • Q96EG7

    Protein attributes for ADSS2 Gene

    Size:
    456 amino acids
    Molecular mass:
    50097 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ADSS2 Gene

neXtProt entry for ADSS2 Gene

Selected DME Specific Peptides for ADSS2 Gene

P30520:
  • TVGGVCTGLG
  • PMVRDGVYF
  • NGFTALALTKLDILD
  • YSSKAAR
  • RRCGWLD
  • GDEGKGK
  • QWGDEGK
  • FIGNGVV
  • YPFVTSS
  • YEALHGPPKK
  • EYDFHLLPSGIIN
  • KAYTTRVG
  • NAGHTVV
  • HLPGLFEEAEKN
  • LPVNAQNY
  • GGNNAGH
  • PANQEVLNKVEVQYKTLPGWNTDISNAR
  • EIKVGVAYKL
  • GTTKKGIGP
  • TGRKRRCGW

Post-translational modifications for ADSS2 Gene

  • Ubiquitination at Lys173, Lys403, Lys419, and Lys441
  • Modification sites at PhosphoSitePlus

Other Protein References for ADSS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ADSS2 Gene

Gene Families for ADSS2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ADSS2 Gene

GenScript: Design optimal peptide antigens:
  • IMP--aspartate ligase 2 (PURA2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30520

UniProtKB/Swiss-Prot:

PURA2_HUMAN :
  • Belongs to the adenylosuccinate synthetase family.
Family:
  • Belongs to the adenylosuccinate synthetase family.
genes like me logo Genes that share domains with ADSS2: view

Function for ADSS2 Gene

Molecular function for ADSS2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + IMP + L-aspartate = GDP + 2 H(+) + N(6)-(1,2-dicarboxyethyl)-AMP + phosphate; Xref=Rhea:RHEA:15753, ChEBI:CHEBI:15378, ChEBI:CHEBI:29991, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:57567, ChEBI:CHEBI:58053, ChEBI:CHEBI:58189; EC=6.3.4.4; Evidence=. ;.

Enzyme Numbers (IUBMB) for ADSS2 Gene

Phenotypes From GWAS Catalog for ADSS2 Gene

Gene Ontology (GO) - Molecular Function for ADSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004019 adenylosuccinate synthase activity IBA,NAS 1592113
GO:0005515 protein binding IPI 23455924
GO:0005525 GTP binding NAS 1592113
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with ADSS2: view
genes like me logo Genes that share phenotypes with ADSS2: view

Animal Models for ADSS2 Gene

MGI Knock Outs for ADSS2:
  • Adss Adss<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADSS2 Gene

Localization for ADSS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADSS2 Gene

Cytoplasm. Note=Partially associated with particulate fractions.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADSS2 gene
Compartment Confidence
cytosol 5
plasma membrane 4
mitochondrion 1
nucleus 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with ADSS2: view

Pathways & Interactions for ADSS2 Gene

genes like me logo Genes that share pathways with ADSS2: view

UniProtKB/Swiss-Prot P30520-PURA2_HUMAN

  • Pathway: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2.

Gene Ontology (GO) - Biological Process for ADSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process NAS 15786719
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006167 AMP biosynthetic process NAS 1592113
GO:0006531 aspartate metabolic process IEA --
GO:0009168 purine ribonucleoside monophosphate biosynthetic process TAS --
genes like me logo Genes that share ontologies with ADSS2: view

No data available for SIGNOR curated interactions for ADSS2 Gene

Drugs & Compounds for ADSS2 Gene

(13) Drugs for ADSS2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspartic acid Approved Nutra Target 171
Acyclovir Approved Pharma Enzyme, substrate 113
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Guanosine diphosphate Experimental Pharma Target 0

(9) Additional Compounds for ADSS2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N(6)-(1,2-dicarboxyethyl)AMP
  • N6-(1,2-Dicarboxyethyl)AMP
  • Adenylosuccinate
  • Adenylosuccinic acid
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with ADSS2: view

Transcripts for ADSS2 Gene

mRNA/cDNA for ADSS2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADSS2 Gene

No ASD Table

Relevant External Links for ADSS2 Gene

GeneLoc Exon Structure for
ADSS2
ECgene alternative splicing isoforms for
ADSS2

Expression for ADSS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of ADSS2 Gene:

ADSS2

SOURCE GeneReport for Unigene cluster for ADSS2 Gene:

Hs.498313

Evidence on tissue expression from TISSUES for ADSS2 Gene

  • Eye(4.2)
  • Liver(4.2)
  • Nervous system(4)
  • Lung(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with ADSS2: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADSS2 Gene

Orthologs for ADSS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ADSS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADSS 33 32
  • 99.85 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADSS 33
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADSS 33 32
  • 94.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADSS 33 32
  • 93.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adss 17 33 32
  • 91.96 (n)
oppossum
(Monodelphis domestica)
Mammalia ADSS 33
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adss 32
  • 90.79 (n)
chicken
(Gallus gallus)
Aves ADSS 33 32
  • 81.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADSS 33
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adss 32
  • 78.15 (n)
MGC75901 32
African clawed frog
(Xenopus laevis)
Amphibia adss-prov 32
zebrafish
(Danio rerio)
Actinopterygii adss 33 32 32
  • 73 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17273 33
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C37H5.6 33
  • 48 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE12 33
  • 53 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.1873 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8281 33
  • 59 (a)
OneToMany
Species where no ortholog for ADSS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADSS2 Gene

ENSEMBL:
Gene Tree for ADSS2 (if available)
TreeFam:
Gene Tree for ADSS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADSS2: view image

Paralogs for ADSS2 Gene

Paralogs for ADSS2 Gene

Pseudogenes.org Pseudogenes for ADSS2 Gene

genes like me logo Genes that share paralogs with ADSS2: view

Variants for ADSS2 Gene

Sequence variations from dbSNP and Humsavar for ADSS2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000098370 -- 244,425,072(-) C/T intron_variant
rs1000107698 -- 244,444,721(-) T/C intron_variant
rs1000193196 -- 244,413,343(-) C/T intron_variant
rs1000381553 -- 244,410,477(-) T/C intron_variant
rs1000396051 -- 244,448,520(-) G/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ADSS2 Gene

Variant ID Type Subtype PubMed ID
nsv516557 CNV gain 19592680
nsv833115 CNV gain 17160897

Variation tolerance for ADSS2 Gene

Residual Variation Intolerance Score: 22.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADSS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADSS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADSS2 Gene

Disorders for ADSS2 Gene

No disorders were found for ADSS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for ADSS2 Gene

Publications for ADSS2 Gene

  1. Cloning and characterization of the cDNA encoding human adenylosuccinate synthetase. (PMID: 1592113) Powell SM … Dixon JE (FEBS letters 1992) 2 3 4 23 56
  2. A gene correcting the defect in the CHO mutant Ade -H, deficient in a branch point enzyme (adenylosuccinate synthetase) of de novo purine biosynthesis, is located on the long arm of chromosome 1. (PMID: 2004783) Lai LW … Patterson D (Genomics 1991) 2 3 23 56
  3. Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population. (PMID: 19115993) Zhang F … Sham PC (BMC medical genetics 2008) 3 23 56
  4. An association study of ADSS gene polymorphisms with schizophrenia. (PMID: 18721483) Zhang F … Liu P (Behavioral and brain functions : BBF 2008) 3 23 56
  5. Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells. (PMID: 15786719) Sun H … Cao X (Molecular and cellular biochemistry 2005) 3 23 56

Products for ADSS2 Gene

Sources for ADSS2 Gene