Gene Gene information from NCBI Gene database.
Entrez ID 79814
Gene name Agmatinase (putative)
Gene symbol AGMAT
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p36.21
miRNA miRNA information provided by mirtarbase database.
675
miRTarBase ID miRNA Experiments Reference
MIRT001392 hsa-miR-1-3p pSILAC 18668040
MIRT001392 hsa-miR-1-3p Proteomics;Other 18668040
MIRT029705 hsa-miR-26b-5p Microarray 19088304
MIRT051619 hsa-let-7e-5p CLASH 23622248
MIRT692424 hsa-miR-508-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000050 Process Urea cycle IEA
GO:0004053 Function Arginase activity IDA 36543883
GO:0004053 Function Arginase activity IEA
GO:0005515 Function Protein binding IPI 33961781
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617887 18407 ENSG00000116771
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BSE5
Protein name Guanidino acid hydrolase, mitochondrial (EC 3.5.3.-) (Arginase, mitochondrial) (EC 3.5.3.1) (Guanidinobutyrase, mitochondrial) (EC 3.5.3.7) (Guanidinopropionase, mitochondrial) (EC 3.5.3.17)
Protein function Hydrolyzes linear guanidino acids to form urea and the corresponding amines. Displays specificity for substrates having a negatively charged head group and short chains including taurocyamine, guanidino propanoic and butanoic acids. May protect
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00491 Arginase 71 344 Arginase family Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in liver and kidney. Also found in skeletal muscle, fetal liver, brain, testis, skin and the gastrointestinal tract. Within brain, expression is higher in the cerebral cortex with lower levels in the medulla and spinal
Sequence
Sequence length 352
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Arginine and proline metabolism
Metabolic pathways
  Agmatine biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Moyamoya angiopathy Likely pathogenic rs1639091509 RCV004704504
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colorectal Neoplasms Associate 36704851
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Insulin Dependent 19 Associate 24309190
★☆☆☆☆
Found in Text Mining only
Gout Associate 36221101
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Inflammation Associate 27433286
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 27433286
★☆☆☆☆
Found in Text Mining only