Entity Details

Primary name CLEC16A
Entity type gene
Source Source Link

Details

PrimaryID23274
RefseqGeneNG_016757
SymbolCLEC16A
NameC-type lectin domain containing 16A
Chromosome16
Location16p13.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCL16A_HUMAN

GO terms

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GOName
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0006914 autophagy
GO:0008333 endosome to lysosome transport
GO:0009267 cellular response to starvation
GO:0016021 integral component of membrane
GO:0016197 endosomal transport
GO:0031982 vesicle
GO:0036020 endolysosome membrane
GO:1901096 regulation of autophagosome maturation
GO:1901097 negative regulation of autophagosome maturation
GO:1904263 positive regulation of TORC1 signaling
GO:1904766 negative regulation of macroautophagy by TORC1 signaling

Diseases

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Disease IDSourceNameDescription
222100 OMIMDiabetes mellitus, insulin-dependent (IDDM)A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variants affecting the gene represented in this entry. Three common non-coding variants of CLEC16A in strong linkage disequilibrium reach genome-wide significance for association with the disease (PubMed:17632545). The non-coding variant rs12708716 is associated with reduced expression of CLEC16A in beta cells and reduced beta cell function (PubMed:24949970).

Interactions

9 interactions