Gene Gene information from NCBI Gene database.
Entrez ID 5641
Gene name Legumain
Gene symbol LGMN
Synonyms (NCBI Gene)
AEPLGMN1PRSC1
Chromosome 14
Chromosome location 14q32.12
Summary This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal s
miRNA miRNA information provided by mirtarbase database.
127
miRTarBase ID miRNA Experiments Reference
MIRT024860 hsa-miR-215-5p Microarray 19074876
MIRT026385 hsa-miR-192-5p Microarray 19074876
MIRT029310 hsa-miR-26b-5p Microarray 19088304
MIRT039572 hsa-miR-642a-5p CLASH 23622248
MIRT1108479 hsa-miR-1276 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
GO ID Ontology Definition Evidence Reference
GO:0002479 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent IDA 9716645
GO:0003014 Process Renal system process IEA
GO:0003014 Process Renal system process ISS
GO:0004197 Function Cysteine-type endopeptidase activity IBA
GO:0004197 Function Cysteine-type endopeptidase activity IDA 9821970, 9872320, 18374643, 22718532, 25326800
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602620 9472 ENSG00000100600
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99538
Protein name Legumain (EC 3.4.22.34) (Asparaginyl endopeptidase) (AEP) (Protease, cysteine 1)
Protein function Has a strict specificity for hydrolysis of asparaginyl bonds (PubMed:23776206). Can also cleave aspartyl bonds slowly, especially under acidic conditions (PubMed:23776206). Involved in the processing of proteins for MHC class II antigen presenta
PDB 4AW9 , 4AWA , 4AWB , 4FGU , 4N6N , 4N6O , 5LU8 , 5LU9 , 5LUA , 5LUB , 7FQH , 7FQI , 7FQJ , 7FQK , 7FQL , 7O50 , 8AE4 , 8AE5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01650 Peptidase_C13 29 286 Peptidase C13 family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Particularly abundant in kidney, heart and placenta. {ECO:0000269|PubMed:8893817}.
Sequence
MVWKVAVFLSVALGIGAVPIDDPEDGGKHWVVIVAGSNGWYNYRHQADACHAYQIIHRNG
IPDEQIVVMMYDDIAYSEDNPTPGIVINRPNGTDVYQGVPKDYTGEDVTPQNFLAVLRGD
AEAVKGIGSGKVLKSGPQDHVFIYFTDHGSTGILVFPNEDLHVKDLNETIHYMYKHKMYR
KMVFYIEACESGSMMNHLPDNINVYATTAANPRESSYACYYDEKRSTYLGDWYSVNWMED
SDVEDLTKETLHKQYHLVKSHTNTSHVMQYGNKTISTMKVMQFQGM
KRKASSPVPLPPVT
HLDLTPSPDVPLTIMKRKLMNTNDLEESRQLTEEIQRHLDARHLIEKSVRKIVSLLAASE
AEVEQLLSERAPLTGHSCYPEALLHFRTHCFNWHSPTYEYALRHLYVLVNLCEKPYPLHR
IKLSMDHVCLGHY
Sequence length 433
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysosome
Antigen processing and presentation
  Trafficking and processing of endosomal TLR
Vitamin D (calciferol) metabolism
MHC class II antigen presentation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
High myopia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA Disgenet
★★☆☆☆
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 Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 27464733
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 40187686 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29568945
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 36551281 Stimulate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 18377911, 27940038, 29414692, 31060209, 31181234, 31521890
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 39662827 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 18377911, 27940038, 29414692, 31060209, 31181234, 31521890
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23740003, 24742492, 27660925, 28554249, 30906206
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24742492, 25605174, 30429518, 30906206 Associate
★☆☆☆☆
Found in Text Mining only
Bronchopulmonary Dysplasia Bronchopulmonary dysplasia Pubtator 37478211 Associate
★☆☆☆☆
Found in Text Mining only