Gene Gene information from NCBI Gene database.
Entrez ID 197021
Gene name Lactase like
Gene symbol LCTL
Synonyms (NCBI Gene)
KLGKLPH
Chromosome 15
Chromosome location 15q22.31
Summary This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which
miRNA miRNA information provided by mirtarbase database.
31
miRTarBase ID miRNA Experiments Reference
MIRT678515 hsa-miR-4694-3p HITS-CLIP 23824327
MIRT678514 hsa-miR-224-3p HITS-CLIP 23824327
MIRT678513 hsa-miR-522-3p HITS-CLIP 23824327
MIRT678512 hsa-miR-6814-5p HITS-CLIP 23824327
MIRT678511 hsa-miR-4722-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0002089 Process Lens morphogenesis in camera-type eye IEA
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005903 Component Brush border IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617060 15583 ENSG00000188501
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UWM7
Protein name Lactase-like protein (Klotho/lactase-phlorizin hydrolase-related protein)
Protein function Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00232 Glyco_hydro_1 33 503 Glycosyl hydrolase family 1 Domain
Sequence
Sequence length 567
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
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
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA 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
Degenerative polyarthritis Arthritis BEFREE 29842940
★☆☆☆☆
Found in Text Mining only
Osteoarthritis, Knee Knee osteoarthritis BEFREE 28920170, 30041054
★☆☆☆☆
Found in Text Mining only