Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23274
Gene name Gene Name - the full gene name approved by the HGNC.
C-type lectin domain containing 16A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLEC16A
Synonyms (NCBI Gene) Gene synonyms aliases
Gop-1, KIAA0350
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encodi
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT043317 hsa-miR-331-3p CLASH 23622248
MIRT041783 hsa-miR-484 CLASH 23622248
MIRT440937 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440937 hsa-miR-218-5p HITS-CLIP 23212916
MIRT895659 hsa-miR-1178 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000423 Process Mitophagy IDA 35604110
GO:0005515 Function Protein binding IPI 36538041
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
GO:0005768 Component Endosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611303 29013 ENSG00000038532
Protein
UniProt ID Q2KHT3
Protein name Protein CLEC16A (C-type lectin domain family 16 member A)
Protein function Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PRKN pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PRKN pathway regulates autophagosome-lysosome fusion
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09758 FPL 51 198 Uncharacterised conserved protein Family
Tissue specificity TISSUE SPECIFICITY: Almost exclusively expressed in immune cells, including dendritic cells, B-lymphocytes and natural killer cells. {ECO:0000269|PubMed:17632545}.
Sequence
MFGRSRSWVGGGHGKTSRNIHSLDHLKYLYHVLTKNTTVTEQNRNLLVETIRSITEILIW
GDQNDSSVFDFFLEKNMFVFFLNILRQKSGRYVCVQLLQTLNILFENISHETSLYYLLSN
NYVNSIIVHKFDFSDEEIMAYYISFLKTLSLKLNNHTVHFFYNEHTNDFALYTEAIKFFN
HPESMVRIAVRTITLNVY
KVSLDNQAMLHYIRDKTAVPYFSNLVWFIGSHVIELDDCVQT
DEEHRNRGKLSDLVAEHLDHLHYLNDILIINCEFLNDVLTDHLLNRLFLPLYVYSLENQD
KGGERPKISLPVSLYLLSQVFLIIHHAPLVNSLAEVILNGDLSEMYAKTEQDIQRSSAKP
SIRCFIKPTETLERSLEMNKHKGKRRVQKRPNYKNVGEEEDEEKGPTEDAQEDAEKAKGT
EGGSKGIKTSGESEEIEMVIMERSKLSELAASTSVQEQNTTDEEKSAAATCSESTQWSRP
FLDMVYHALDSPDDDYHALFVLCLLYAMSHNKGMDPEKLERIQLPVPNAAEKTTYNHPLA
ERLIRIMNNAAQPDGKIRLATLELSCLLLKQQVLMSAGCIMKDVHLACLEGAREESVHLV
RHFYKGEDIFLDMFEDEYRSMTMKPMNVEYLMMDASILLPPTGTPLTGIDFVKRLPCGDV
EKTRRAIRVFFMLRSLSLQLRGEPETQLPLTREEDLIKTDDVLDLNNSDLIACTVITKDG
GMVQRFLAVDIYQMSLVEPDVSRLGWGVVKFAGLLQDMQVTGVEDDSRALNITIHKPASS
PHSKPFPILQATFIFSDHIRCIIAKQRLAKGRIQARRMKMQRIAALLDLPIQPTTEVLGF
GLGSSTSTQHLPFRFYDQGRRGSSDPTVQRSVFASVDKVPGFAVAQCINQHSSPSLSSQS
PPSASGSPSGSGSTSHCDSGGTSSSSTPSTAQSPADAPMSPELPKPHLPDQLVIVNETEA
DSKPSKNVARSAAVETASLSPSLVPARQPTISLLCEDTADTLSVESLTLVPPVDPHSLRS
LTGMPPLSTPAAACTEPVGEEAACAEPVGTAED
Sequence length 1053
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Acne acne vulgaris N/A N/A GWAS
Alopecia Areata Alopecia areata N/A N/A GWAS
Asthma Adult asthma, Asthma (adult onset), Age of onset of adult onset asthma, Asthma, Asthma in any disease, Asthma onset (childhood vs adult), Asthma (moderate or severe), Asthma (childhood onset), Pediatric asthma, Nonatopic asthma, Atopic asthma, Age of onset of childhood onset asthma N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Addison Disease Associate 19734133, 20220768
Adenoma Islet Cell Associate 36622793
Arthritis Juvenile Associate 19734133, 34101054
Arthritis Rheumatoid Associate 19734133
Asthma Associate 24388013
Autoimmune Diseases Associate 19734133, 21989056, 25823473, 34643957
Bone Diseases Associate 23133532
Celiac Disease Associate 20190752
Colitis Ulcerative Associate 19337309
Crohn Disease Associate 19337309, 20220768