Gene Gene information from NCBI Gene database.
Entrez ID 90070
Gene name Lacritin
Gene symbol LACRT
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q13.2
Summary The protein encoded by this gene is highly expressed in the lacrimal glands and localized primarily to secretory granules and secretory fluid. It augments lacrimal acinar cell secretion, promotes ductal cell proliferation, and stimulates signaling through
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT019336 hsa-miR-148b-3p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11419941, 16982797, 33961781
GO:0005518 Function Collagen binding IDA 11419941
GO:0005576 Component Extracellular region IDA 17850790
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space HDA 22664934, 23580065
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607360 16430 ENSG00000135413
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9GZZ8
Protein name Extracellular glycoprotein lacritin
Protein function Modulates secretion by lacrimal acinar cells.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in secretory granules of many acinar cells in lacrimal gland and in scattered acinar cells of salivary glands.
Sequence
MKFTTLLFLAAVAGALVYAEDASSDSTGADPAQEAGTSKPNEEISGPAEPASPPETTTTA
QETSAAAVQGTAKVTSSRQELNPLKSIVEKSILLTEQALAKAGKGMHGGVPGGKQFIENG
SEFAQKLLKKFSLLKPWA
Sequence length 138
Interactions View interactions
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
COLOR VISION DISORDER 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
Alzheimer Disease Alzheimer disease Pubtator 27327445 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 14574570 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Disease Chronic disease Pubtator 36677706 Associate
★☆☆☆☆
Found in Text Mining only
Dry Eye Syndromes Dry eye syndrome Pubtator 23640897, 27436115, 31010136, 32879769, 36677706 Associate
★☆☆☆☆
Found in Text Mining only
Eye Diseases Eye disease Pubtator 32879769 Associate
★☆☆☆☆
Found in Text Mining only
Graves Disease Graves Disease BEFREE 28419103
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms LHGDN 14574570
★☆☆☆☆
Found in Text Mining only
Sjogren's Syndrome Sjogren syndrome Pubtator 31010136 Associate
★☆☆☆☆
Found in Text Mining only
Thyroid associated opthalmopathies Thyroid eye disease BEFREE 28419103
★☆☆☆☆
Found in Text Mining only