CLEC16A

Protein-coding gene in the species Homo sapiens

CLEC16A

Identifiers

Aliases

CLEC16A, Gop-1, KIAA0350, C-type lectin domain family 16 member A, C-type lectin domain containing 16A

External IDs

OMIM: 611303; MGI: 1921624; HomoloGene: 71019; GeneCards: CLEC16A; OMA:CLEC16A - orthologs

Gene location (Human)

Chr.	Chromosome 16 (human)^[1]

Band	16p13.13	Start	10,944,564 bp^[1]
Band	16p13.13	End	11,182,186 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 16 (mouse)^[2]

Band	16\|16 A1	Start	10,363,203 bp^[2]
Band	16\|16 A1	End	10,562,742 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

left testis

right testis

sural nerve

right hemisphere of cerebellum

epithelium of colon

apex of heart

right frontal lobe

Brodmann area 10

anterior pituitary

gastrocnemius muscle

Top expressed in

dentate gyrus of hippocampal formation granule cell

muscle of thigh

primary visual cortex

superior frontal gyrus

medial geniculate nucleus

cerebellar cortex

subiculum

inferior colliculus

primary motor cortex

lateral geniculate nucleus

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	molecular function
Cellular component	lysosomal membrane endosome lysosome endosome membrane membrane endolysosome membrane Golgi apparatus cytosol vesicle late endosome integral component of membrane
Biological process	autophagy positive regulation of autophagosome maturation negative regulation of proteasomal ubiquitin-dependent protein catabolic process negative regulation of mitophagy cellular response to starvation negative regulation of autophagosome maturation positive regulation of TORC1 signaling negative regulation of macroautophagy by TORC1 signaling endosome to lysosome transport endosomal transport
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


23274


74374

Ensembl


ENSG00000038532


ENSMUSG00000068663

UniProt


Q2KHT3


Q80U30

RefSeq (mRNA)


NM_001243403 NM_015226


NM_001204229 NM_177562

RefSeq (protein)


NP_001230332 NP_056041


NP_001191158 NP_808230

Location (UCSC)

Chr 16: 10.94 – 11.18 Mb

Chr 16: 10.36 – 10.56 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

C-type lectin domain family 16, also known as CLEC16A, is a protein that in humans is encoded by the CLEC16A gene.^[5]^[6]^[7]

Function

Little is known regarding the function of the CLEC16A protein, however it is shown to be highly expressed on B-lymphocytes, natural killer (NK) and dendritic cells. Despite its name CLEC16A may not function as a lectin because its C-type lectin domain is only 20 amino-acids long.^[8]

Clinical significance

Polymorphisms in the CLEC16A gene are associated with an increased risk of multiple sclerosis^[9] as well as type I diabetes.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000038532 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000068663 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: C-type lectin domain family 16".
^ Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (April 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
^ Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, Polychronakos C (August 2007). "A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene". Nature. 448 (7153): 591–4. Bibcode:2007Natur.448..591H. doi:10.1038/nature06010. PMID 17632545. S2CID 4426917.
^ ^a ^b International Multiple Sclerosis Genetics Consortium (IMSGC) (January 2009). "The expanding genetic overlap between multiple sclerosis and type I diabetes". Genes and Immunity. 10 (1). International Multiple Sclerosis Genetics Consortium (IMSGC): 11–4. doi:10.1038/gene.2008.83. PMC 2718424. PMID 18987646.
^ Hoppenbrouwers IA, Aulchenko YS, Janssens AC, Ramagopalan SV, Broer L, Kayser M, Ebers GC, Oostra BA, van Duijn CM, Hintzen RQ (November 2009). "Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis". Journal of Human Genetics. 54 (11): 676–80. doi:10.1038/jhg.2009.96. PMID 19834503.

External links

Human CLEC16A genome location and CLEC16A gene details page in the UCSC Genome Browser.

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Zoledziewska M, Costa G, Pitzalis M, Cocco E, Melis C, Moi L, Zavattari P, Murru R, Lampis R, Morelli L, Poddie F, Frongia P, Pusceddu P, Bajorek M, Marras A, Satta AM, Chessa A, Pugliatti M, Sotgiu S, Whalen MB, Rosati G, Cucca F, Marrosu MG (January 2009). "Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia". Genes and Immunity. 10 (1): 15–7. doi:10.1038/gene.2008.84. PMID 18946483. S2CID 1905749.
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