Gene Gene information from NCBI Gene database.
Entrez ID 51557
Gene name Lengsin, lens protein with glutamine synthetase domain
Gene symbol LGSN
Synonyms (NCBI Gene)
GLULD1LGS
Chromosome 6
Chromosome location 6q12
Summary This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone pro
miRNA miRNA information provided by mirtarbase database.
478
miRTarBase ID miRNA Experiments Reference
MIRT722365 hsa-miR-136-5p HITS-CLIP 19536157
MIRT722364 hsa-miR-6845-3p HITS-CLIP 19536157
MIRT722363 hsa-miR-6873-3p HITS-CLIP 19536157
MIRT722362 hsa-miR-4768-5p HITS-CLIP 19536157
MIRT722361 hsa-miR-6833-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004356 Function Glutamine synthetase activity IBA
GO:0005737 Component Cytoplasm IBA
GO:0005886 Component Plasma membrane IEA
GO:0006542 Process Glutamine biosynthetic process IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611470 21016 ENSG00000146166
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5TDP6
Protein name Lengsin (Glutamate-ammonia ligase domain-containing protein 1) (Lens glutamine synthase-like)
Protein function May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00120 Gln-synt_C 181 507 Glutamine synthetase, catalytic domain Domain
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in lens. {ECO:0000269|PubMed:12107413, ECO:0000269|PubMed:17010935}.
Sequence
Sequence length 509
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISORDER OF MUSCULOSKELETAL SYSTEM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA 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
Carcinoma of lung Lung carcinoma BEFREE 19459848
★☆☆☆☆
Found in Text Mining only
Congenital anomaly of face Facial dysmorphism BEFREE 26522117
★☆☆☆☆
Found in Text Mining only
CORNELIA DE LANGE SYNDROME 4 Cornelia De Lange Syndrome BEFREE 26522117
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 11844713
★☆☆☆☆
Found in Text Mining only
Juvenile Myoclonic Epilepsy Myoclonic Epilepsy BEFREE 29785705
★☆☆☆☆
Found in Text Mining only
Langer-Giedion Syndrome Langer-Giedion Syndrome BEFREE 26522117, 29785705, 8530105
★☆☆☆☆
Found in Text Mining only
Lennox-Gastaut syndrome Lennox-Gastaut Syndrome BEFREE 29785705
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 19459848
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 19459848 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 19459848
★☆☆☆☆
Found in Text Mining only