Gene Gene information from NCBI Gene database.
Entrez ID 8836
Gene name Gamma-glutamyl hydrolase
Gene symbol GGH
Synonyms (NCBI Gene)
GATD10GH
Chromosome 8
Chromosome location 8q12.3
Summary This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
23
miRTarBase ID miRNA Experiments Reference
MIRT029881 hsa-miR-26b-5p Microarray 19088304
MIRT1018148 hsa-miR-3121-3p CLIP-seq
MIRT1018149 hsa-miR-3185 CLIP-seq
MIRT1018150 hsa-miR-409-3p CLIP-seq
MIRT1018151 hsa-miR-410 CLIP-seq
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:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IDA 25645918
GO:0005634 Component Nucleus HDA 21630459
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601509 4248 ENSG00000137563
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92820
Protein name Gamma-glutamyl hydrolase (EC 3.4.19.9) (Conjugase) (GH) (Gamma-Glu-X carboxypeptidase)
Protein function Hydrolyzes the polyglutamate sidechains of pteroylpolyglutamates. Progressively removes gamma-glutamyl residues from pteroylpoly-gamma-glutamate to yield pteroyl-alpha-glutamate (folic acid) and free glutamate (PubMed:11005824, PubMed:8816764).
PDB 1L9X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07722 Peptidase_C26 34 246 Peptidase C26 Domain
Sequence
Sequence length 318
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Folate biosynthesis
Biosynthesis of cofactors
Antifolate resistance
  Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
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
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly Pubtator 10890176, 21810856, 22170724, 23640965, 26949262, 6243140, 8528360, 8822320 Associate
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 21908929, 30078825 Stimulate
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 28278270
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15284538, 16826517, 20197200, 22568793, 22994778, 24908438, 25099492, 28278270, 31739835
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19764999
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 16826517, 22568793, 24908438, 25099492, 28278270, 31739835
★☆☆☆☆
Found in Text Mining only
Alstrom Syndrome Alstrom syndrome Pubtator 23445176 Associate
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia nervosa Pubtator 10890176 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 17409534, 22450926, 23897011, 30175777 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 20824079 Associate
★☆☆☆☆
Found in Text Mining only