ASNS (asparagine synthetase (glutamine-hydrolyzing))

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 440
Gene name Asparagine synthetase (glutamine-hydrolyzing)
Gene symbol ASNS
Synonyms (NCBI Gene)
ASNSDTS11
Chromosome 7
Chromosome location 7q21.3
Summary The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. A
miRNA miRNA information provided by mirtarbase database.
18
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (18)
miRTarBase ID miRNA Experiments Reference
MIRT020723 hsa-miR-155-5p Proteomics 18668040
MIRT029495 hsa-miR-26b-5p Microarray 19088304
MIRT031665 hsa-miR-16-5p Proteomics 18668040
MIRT050820 hsa-miR-17-5p CLASH 23622248
MIRT050405 hsa-miR-23a-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (7)
Transcription factor Regulation Reference
ATF3 Activation 12881527
ATF3 Unknown 15385533
ATF4 Activation 11960987;16164412;17276738
ATF4 Unknown 15385533;23403946
CEBPB Unknown 15385533
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004066 Function Asparagine synthase (glutamine-hydrolyzing) activity IBA
GO:0004066 Function Asparagine synthase (glutamine-hydrolyzing) activity IDA 2564390, 2569668, 2573597, 2886907, 16023613
GO:0004066 Function Asparagine synthase (glutamine-hydrolyzing) activity IEA
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
108370 753 ENSG00000070669
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08243
Protein name Asparagine synthetase [glutamine-hydrolyzing] (EC 6.3.5.4) (Cell cycle control protein TS11) (Glutamine-dependent asparagine synthetase)
PDB 6GQ3 , 8SUE , 9B6C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13537 GATase_7 47 → 166 Glutamine amidotransferase domain Domain
PF00733 Asn_synthase 234 → 395 Asparagine synthase Domain
PF00733 Asn_synthase 381 → 547 Asparagine synthase Domain
Sequence 
MCGIWALFGSDDCLSVQCLSAMKIAHRGPDAFRFENVNGYTNCCFGFHRLAVVDPLFGMQ
PIRVKKYPYLWLCYNGEIYNHKKMQQHFEFEYQTKVDGEIILHLYDKGGIEQTICMLDGV
FAFVLLDTANKKVFLGRDTYGVRPLFKAMTEDGFLAVCSEAKGLVTLKHSATPFLKVEPF
LPGHYEVLDLKPNGKVASVEMVKYHHCRDVPLHALYDNVEKLFPGFEIETVKNNLRILFN
NAVKKRLMTDRRIGCLLSGGLDSSLVAATLLKQLKEAQVQYPLQTFAIGMEDSPDLLAAR
KVADHIGSEHYEVLFNSEEGIQALDEVIFSLETYDITTVRASVGMYLISKYIRKNTDSVV
IFSGEGSDELTQGYIYFHKAPSPEKAEEESERLLRELYLFDVLRADRTTAAHGLELRVPF
LDHRFSSYYLSLPPEMRIPKNGIEKHLLRETFEDSNLIPKEILWRPKEAFSDGITSVKNS
WFKILQEYVEHQVDDAMMANAAQKFPFNTPKTKEGYYYRQVFERHYPGRADWLSHYWMPK
WINATDPSARTLTHYKSAVKA
Sequence length 561
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Transcription factors Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal cerebral morphology Likely pathogenic rs2115592556, rs1230123411, rs781082812 RCV002275912
RCV002276344
RCV002275467
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ASNS-related disorder Pathogenic; Likely pathogenic rs1792123022, rs373645939 RCV004731304
RCV004755930
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Likely pathogenic; Pathogenic rs2115755676, rs1488937281, rs774808316, rs2115616730, rs797045306, rs747624770, rs1791584683, rs866033169, rs1166271142, rs2115654584, rs1399973379, rs2115649690, rs1183100703, rs201209327, rs2484630568
View all (30 more)		 RCV001826128
RCV005038197
RCV001806244
RCV001780647
RCV001806448
View all (42 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer Likely pathogenic; Pathogenic rs769236847 RCV005896681
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (13)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY, SEVERE ENCEPHALOPATHY, PROGRESSIVE CEREBRAL ATROPHY SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (81)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 14724653, 15665306, 16023613, 17380207, 24474640, 30061420, 30364637, 30464009
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 15665306, 16023613, 17380207, 24474640, 30061420
★★★★★
★☆☆☆☆
Found in Text Mining only
ASPARAGINE SYNTHETASE DEFICIENCY Asparagine Synthetase Deficiency UNIPROT_DG 24139043
★★★★★
★☆☆☆☆
Found in Text Mining only
ASPARAGINE SYNTHETASE DEFICIENCY Asparagine Synthetase Deficiency CLINVAR_DG 24139043, 25758715, 27522229
★★★★★
★☆☆☆☆
Found in Text Mining only
ASPARAGINE SYNTHETASE DEFICIENCY Asparagine Synthetase Deficiency CLINGEN_DG 24139043, 25227173, 25663424, 26318253, 26395554, 27422383, 27469131, 27711071, 27743885, 28776279, 29279279, 29375865, 29405484, 30057589, 30315573
View all (1 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
ASPARAGINE SYNTHETASE DEFICIENCY Asparagine Synthetase Deficiency ORPHANET_DG 24139043
★★★★★
★☆☆☆☆
Found in Text Mining only
ASPARAGINE SYNTHETASE DEFICIENCY Asparagine Synthetase Deficiency GENOMICS_ENGLAND_DG 27469131
★★★★★
★☆☆☆☆
Found in Text Mining only
ASPARAGINE SYNTHETASE DEFICIENCY Asparagine Synthetase Deficiency BEFREE 27522229, 29084849, 29279279
★★★★★
★☆☆☆☆
Found in Text Mining only
ASPARAGINE SYNTHETASE DEFICIENCY Asparagine Synthetase Deficiency CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
ATRIAL SEPTAL DEFECT 1 Atrial Septal Defect BEFREE 29084849, 29279279
★★★★★
★☆☆☆☆
Found in Text Mining only