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ADSS2 adenylosuccinate synthase 2 [ Homo sapiens (human) ]

Gene ID: 159, updated on 3-Apr-2024

Summary

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Official Symbol
ADSS2provided by HGNC
Official Full Name
adenylosuccinate synthase 2provided by HGNC
Primary source
HGNC:HGNC:292
See related
Ensembl:ENSG00000035687 MIM:103060; AllianceGenome:HGNC:292
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADEH; ADSS; ADSS 2
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]
Expression
Ubiquitous expression in testis (RPKM 31.2), thyroid (RPKM 14.9) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1q44
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (244408494..244452060, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (243824815..243868543, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (244571796..244615362, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:244517816-244518334 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:244524996-244525821 Neighboring gene sperm microtubule inner protein 3 Neighboring gene TGFB induced factor homeobox 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2014 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:244623002-244624201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2015 Neighboring gene catsper channel auxiliary subunit epsilon Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:244676451-244676951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2840 Neighboring gene MPRA-validated peak807 silencer Neighboring gene CYCS pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244806024-244806577 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:244815099-244815672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2016 Neighboring gene desumoylating isopeptidase 2 Neighboring gene ribosomal protein L37 pseudogene 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. An association study of ADSS gene polymorphisms with schizophrenia. Zhang F, et al. Behav Brain Funct, 2008 Aug 24. PMID 18721483, Free PMC Article
  2. Human adenylosuccinate synthetase. Partial purification, kinetic and regulatory properties of the enzyme from placenta. Van der Weyden MB, et al. J Biol Chem, 1974 Nov 25. PMID 4436310
  3. Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population. Zhang F, et al. BMC Med Genet, 2008 Dec 30. PMID 19115993, Free PMC Article
  4. Effect of a new non-cleavable substrate analog on wild-type and serine mutants in the signature sequence of adenylosuccinate lyase of Bacillus subtilis and Homo sapiens. Sivendran S, et al. Protein Sci, 2008 Jul. PMID 18469177, Free PMC Article
  5. Purine nucleotide cycle in rat renal cortex and medulla under conditions that mimic normal and low oxygen supply. Stepinski J, et al. Kidney Int, 1996 Oct. PMID 8887278

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These findings suggest that the combined effects of the polymorphisms in the ADSS and ATM genes may confer susceptibility to the development of schizophrenia in a Chinese population
    Title: Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population.
  2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: An association study of ADSS gene polymorphisms with schizophrenia.
  4. Kinetic data reveal that human Ser(289) and B. subtilis Ser(262) and Ser(263) are essential for catalysis, while the ability of these Ser mutants to bind APBADP suggests that they do not contribute to substrate affinity
    Title: Effect of a new non-cleavable substrate analog on wild-type and serine mutants in the signature sequence of adenylosuccinate lyase of Bacillus subtilis and Homo sapiens.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC20404

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables adenylosuccinate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables adenylosuccinate synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables adenylosuccinate synthase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphate ion binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in 'de novo' AMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in 'de novo' AMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in 'de novo' AMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in AMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in AMP biosynthetic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in IMP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in aspartate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in immune system process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in response to ammonium ion IEA
Inferred from Electronic Annotation
more info
  
involved_in response to purine-containing compound IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
adenylosuccinate synthetase isozyme 2
Names
AMPSase 2
IMP--aspartate ligase 2
L-type adenylosuccinate synthetase
adenylosuccinate synthetase (Ade(-)H-complementing)
adenylosuccinate synthetase, acidic isozyme
adenylosuccinate synthetase, liver isozyme
epididymis secretory sperm binding protein
NP_001117.2
NP_001352002.1
XP_047303537.1
XP_047303541.1
XP_047303543.1
XP_054190681.1
XP_054190682.1
XP_054190683.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001126.5 → NP_001117.2  adenylosuccinate synthetase isozyme 2 isoform 1

    See identical proteins and their annotated locations for NP_001117.2

    Status: REVIEWED

    Source sequence(s)
    AL645465, BC012356
    Consensus CDS
    CCDS1624.1
    UniProtKB/Swiss-Prot
    B1AQM5, P30520, Q96EG7
    UniProtKB/TrEMBL
    A0A024R5Q7, A0A384MEI4, B4E1L0
    Related
    ENSP00000355493.3, ENST00000366535.4
    Conserved Domains (1) summary
    pfam00709
    Location:31 → 453
    Adenylsucc_synt; Adenylosuccinate synthetase

  2. NM_001365073.2 → NP_001352002.1  adenylosuccinate synthetase isozyme 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL591594, AL645465
    UniProtKB/TrEMBL
    B4E1L0
    Conserved Domains (1) summary
    pfam00709
    Location:32 → 450
    Adenylsucc_synt; Adenylosuccinate synthetase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    244408494..244452060 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447585.1 → XP_047303541.1  adenylosuccinate synthetase isozyme 2 isoform X2

  2. XM_047447581.1 → XP_047303537.1  adenylosuccinate synthetase isozyme 2 isoform X1

  3. XM_047447587.1 → XP_047303543.1  adenylosuccinate synthetase isozyme 2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    243824815..243868543 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334707.1 → XP_054190682.1  adenylosuccinate synthetase isozyme 2 isoform X2

  2. XM_054334706.1 → XP_054190681.1  adenylosuccinate synthetase isozyme 2 isoform X1

  3. XM_054334708.1 → XP_054190683.1  adenylosuccinate synthetase isozyme 2 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P30520.3 GenPept UniProtKB/Swiss-Prot:P30520

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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