LIPK (lipase family member K)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 643414
Gene name Lipase family member K
Gene symbol LIPK
Synonyms (NCBI Gene)
LIPL2bA186O14.2
Chromosome 10
Chromosome location 10q23.31
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0004465 Function Lipoprotein lipase activity TAS
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0006629 Process Lipid metabolic process IBA
GO:0006629 Process Lipid metabolic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613922 23444 ENSG00000204021
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VXJ0
Protein name Lipase member K (EC 3.1.1.-) (Lipase-like abhydrolase domain-containing protein 2)
Protein function Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04083 Abhydro_lipase 35 → 97 Partial alpha/beta-hydrolase lipase region Family
Tissue specificity TISSUE SPECIFICITY: Exclusively expressed in the epidermis within the granular keratinocytes. {ECO:0000269|PubMed:17562024}.
Sequence 
MWQLLAAACWMLLLGSMYGYDKKGNNANPEANMNISQIISYWGYPYEEYDVTTKDGYILG
IYRIPHGRGCPGRTAPKPAVYLQHGLIASASNWICNLPNNSLAFLLADSGYDVWLGNSRG
NTWSRKHLKLSPKSPEYWAFSLDEMAKYDLPATINFIIEKTGQKRLYYVGHSQGTTIAFI
AFSTNPELAKKIKIFFALAPVVTVKYTQSPMKKLTTLSRRVVKVLFGDKMFHPHTLFDQF
IATKVCNRKLFRRICSNFLFTLSGFDPQNLNMSRLDVYLSHNPAGTSVQNMLHWAQAVNS
GQLQAFDWGNSDQNMMHFHQLTPPLYNITKMEVPTAIWNGGQDIVADPKDVENLLPQIAN
LIYYKLIPHYNHVDFYLGEDAPQEIYQDLIILMEEYLQN
Sequence length 399
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (4)
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
LIPK-related disorder Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Diabetes Gestational Gestational diabetes Pubtator 36698149 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only