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    ADSS2 adenylosuccinate synthase 2 [ Homo sapiens (human) ]

    Gene ID: 159, updated on 8-Jul-2021

    Summary

    Official Symbol
    ADSS2provided by HGNC
    Official Full Name
    adenylosuccinate synthase 2provided by HGNC
    Primary source
    HGNC:HGNC:292
    See related
    Ensembl:ENSG00000035687 MIM:103060
    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
    NEW
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    Genomic context

    See ADSS2 in Genome Data Viewer
    Location:
    1q44
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (244408494..244452060, complement)
    105.20201022 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 chromosome 1 open reading frame 100 Neighboring gene TGFB induced factor homeobox 2 pseudogene 1 Neighboring gene uncharacterized LOC105373264 Neighboring gene catsper channel auxiliary subunit epsilon Neighboring gene CYCS pseudogene 5 Neighboring gene desumoylating isopeptidase 2 Neighboring gene ribosomal protein L37 pseudogene 8

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
    GeneReviews: Not available
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    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
    PubMed 
    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
    PubMed 
    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

    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_011542410.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001126.5NP_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
      P30520
      UniProtKB/TrEMBL
      A0A024R5Q7
      Related
      ENSP00000355493.3, ENST00000366535.4
      Conserved Domains (1) summary
      pfam00709
      Location:31453
      Adenylsucc_synt; Adenylosuccinate synthetase
    2. NM_001365073.2NP_001352002.1  adenylosuccinate synthetase isozyme 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL591594, AL645465
      Conserved Domains (1) summary
      pfam00709
      Location:32450
      Adenylsucc_synt; Adenylosuccinate synthetase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011544108.3XP_011542410.1  adenylosuccinate synthetase isozyme 2 isoform X1

      See identical proteins and their annotated locations for XP_011542410.1

      Conserved Domains (1) summary
      pfam00709
      Location:2393
      Adenylsucc_synt; Adenylosuccinate synthetase
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