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ADSS2 adenylosuccinate synthase 2 [ Homo sapiens (human) ]

Gene ID: 159, updated on 1-Jun-2020

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

Genomic context

See ADSS2 in Genome Data Viewer
Location:
1q44
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (244408492..244452060, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (244571794..244615436, 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

NHGRI GWAS Catalog

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

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

General protein information

Preferred Names
adenylosuccinate synthetase isozyme 2
Names
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
epididymis secretory sperm binding protein
NP_001117.2
NP_001352002.1
XP_011542410.1

NCBI Reference Sequences (RefSeq)

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:32453
    Adenylsucc_synt; Adenylosuccinate synthetase
  2. NM_001365073.1NP_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.

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
    244408492..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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