ADSS2 adenylosuccinate synthase 2 [Homo sapiens (human)] - Gene

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; 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: An association study of ADSS gene polymorphisms with schizophrenia.
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.

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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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76611 (e-PCR)
- UniSTS:17427

SHGC-83429 (e-PCR)
- UniSTS:101927

SHGC-79184 (e-PCR)
- UniSTS:102728

SHGC-76618 (e-PCR)
- UniSTS:49018

SHGC-31639 (e-PCR)
- UniSTS:22913

SHGC-104641 (e-PCR)
- UniSTS:168955

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 more info	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

EC 6.3.4.4

NP_001352002.1

EC 6.3.4.4

XP_047303537.1

EC 6.3.4.4

XP_047303541.1

EC 6.3.4.4

XP_047303543.1

EC 6.3.4.4

XP_054190681.1

EC 6.3.4.4

XP_054190682.1

EC 6.3.4.4

XP_054190683.1

EC 6.3.4.4

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)

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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

244408494..244452060 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4E1L0
XM_047447581.1 → XP_047303537.1 adenylosuccinate synthetase isozyme 2 isoform X1

UniProtKB/TrEMBL

B4E1L0
XM_047447587.1 → XP_047303543.1 adenylosuccinate synthetase isozyme 2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

243824815..243868543 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4E1L0
XM_054334706.1 → XP_054190681.1 adenylosuccinate synthetase isozyme 2 isoform X1

UniProtKB/TrEMBL

B4E1L0
XM_054334708.1 → XP_054190683.1 adenylosuccinate synthetase isozyme 2 isoform X3