Gene Gene information from NCBI Gene database.
Entrez ID 3004
Gene name Granzyme M
Gene symbol GZMM
Synonyms (NCBI Gene)
LMET1MET1
Chromosome 19
Chromosome location 19p13.3
Summary Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectivel
miRNA miRNA information provided by mirtarbase database.
32
miRTarBase ID miRNA Experiments Reference
MIRT490825 hsa-miR-6732-5p PAR-CLIP 20371350
MIRT490823 hsa-miR-1914-5p PAR-CLIP 20371350
MIRT490822 hsa-miR-7114-5p PAR-CLIP 20371350
MIRT490821 hsa-miR-2277-3p PAR-CLIP 20371350
MIRT490820 hsa-miR-4524a-3p PAR-CLIP 20371350
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:0001913 Process T cell mediated cytotoxicity IEA
GO:0002376 Process Immune system process IEA
GO:0004175 Function Endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600311 4712 ENSG00000197540
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51124
Protein name Granzyme M (EC 3.4.21.-) (Met-1 serine protease) (Hu-Met-1) (Met-ase) (Natural killer cell granular protease)
Protein function Cleaves peptide substrates after methionine, leucine, and norleucine. Physiological substrates include EZR, alpha-tubulins and the apoptosis inhibitor BIRC5/Survivin. Promotes caspase activation and subsequent apoptosis of target cells. {ECO:000
PDB 2ZGC , 2ZGH , 2ZGJ , 2ZKS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 26 249 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Highly and constitutively expressed in activated natural killer (NK) cells. {ECO:0000269|PubMed:18523284}.
Sequence
Sequence length 257
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Alternative complement activation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
INSOMNIA GWAS catalog
★★☆☆☆
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
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 14559836, 23321252, 24890041
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 29681102
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 31172927 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 23032187
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28659634
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28659634, 37277882 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28659634 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 12939467
★☆☆☆☆
Found in Text Mining only
Central Diabetes Insipidus Diabetes Insipidus BEFREE 30696914
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37158960 Associate
★☆☆☆☆
Found in Text Mining only