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    ADSS2 adenylosuccinate synthase 2 [ Homo sapiens (human) ]

    Gene ID: 159, updated on 27-Nov-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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    See ADSS2 in Genome Data Viewer
    Location:
    1q44
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (244408494..244452060, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (243824815..243868543, complement)
    RS_2024_09 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 (59) 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)

    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_2024_08

    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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