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Aliases for CLEC16A Gene

Aliases for CLEC16A Gene

  • C-Type Lectin Domain Family 16 Member A 2 3 4 5
  • KIAA0350 2 3 4
  • C-Type Lectin Domain Family 16, Member A 2 3
  • Gop-1 3

External Ids for CLEC16A Gene

Previous HGNC Symbols for CLEC16A Gene

  • KIAA0350

Previous GeneCards Identifiers for CLEC16A Gene

  • GC16P010945
  • GC16P011038
  • GC16P010955

Summaries for CLEC16A Gene

Entrez Gene Summary for CLEC16A 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 encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for CLEC16A Gene

CLEC16A (C-Type Lectin Domain Family 16 Member A) is a Protein Coding gene. Diseases associated with CLEC16A include interleukin-7 receptor alpha deficiency and diabetes mellitus, insulin-dependent.

UniProtKB/Swiss-Prot for CLEC16A Gene

  • Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PARK2 pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PARK2 pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteosomal degradation, RNF41/NRDP1 which regulates proteosomal degradation of PARK2. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health.

Gene Wiki entry for CLEC16A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLEC16A Gene

Genomics for CLEC16A Gene

Regulatory Elements for CLEC16A Gene

Promoters for CLEC16A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CLEC16A on UCSC Golden Path with GeneCards custom track

Genomic Location for CLEC16A Gene

Chromosome:
16
Start:
10,944,488 bp from pter
End:
11,193,278 bp from pter
Size:
248,791 bases
Orientation:
Plus strand

Genomic View for CLEC16A Gene

Genes around CLEC16A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLEC16A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLEC16A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLEC16A Gene

Proteins for CLEC16A Gene

  • Protein details for CLEC16A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2KHT3-CL16A_HUMAN
    Recommended name:
    Protein CLEC16A
    Protein Accession:
    Q2KHT3
    Secondary Accessions:
    • O15058
    • Q6ZTB2

    Protein attributes for CLEC16A Gene

    Size:
    1053 amino acids
    Molecular mass:
    117715 Da
    Quaternary structure:
    • Interacts with RNF41/NRDP1.
    SequenceCaution:
    • Sequence=BAA20807.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CLEC16A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLEC16A Gene

Proteomics data for CLEC16A Gene at MOPED

Post-translational modifications for CLEC16A Gene

  • Ubiquitination at Lys 445
  • Modification sites at PhosphoSitePlus

Other Protein References for CLEC16A Gene

Antibody Products

No data available for DME Specific Peptides for CLEC16A Gene

Domains & Families for CLEC16A Gene

Gene Families for CLEC16A Gene

Protein Domains for CLEC16A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CLEC16A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q2KHT3

UniProtKB/Swiss-Prot:

CL16A_HUMAN :
  • Belongs to the CLEC16A/gop-1 family.
Family:
  • Belongs to the CLEC16A/gop-1 family.
genes like me logo Genes that share domains with CLEC16A: view

Function for CLEC16A Gene

Molecular function for CLEC16A Gene

UniProtKB/Swiss-Prot Function:
Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PARK2 pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PARK2 pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteosomal degradation, RNF41/NRDP1 which regulates proteosomal degradation of PARK2. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health.
genes like me logo Genes that share phenotypes with CLEC16A: view

Animal Model Products

miRNA for CLEC16A Gene

miRTarBase miRNAs that target CLEC16A

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CLEC16A Gene

Localization for CLEC16A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLEC16A Gene

Endosome membrane; Peripheral membrane protein. Lysosome membrane; Peripheral membrane protein. Note=Associates with the endolysosome membrane. {ECO:0000250 UniProtKB:Q80U30}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLEC16A Gene COMPARTMENTS Subcellular localization image for CLEC16A gene
Compartment Confidence
endosome 4
lysosome 4
vacuole 4
cytosol 3
nucleus 3
plasma membrane 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CLEC16A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IEA --
genes like me logo Genes that share ontologies with CLEC16A: view

Pathways & Interactions for CLEC16A Gene

SuperPathways for CLEC16A Gene

No Data Available

Interacting Proteins for CLEC16A Gene

Gene Ontology (GO) - Biological Process for CLEC16A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CLEC16A Gene

Drugs & Compounds for CLEC16A Gene

No Compound Related Data Available

Transcripts for CLEC16A Gene

mRNA/cDNA for CLEC16A Gene

(16) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CLEC16A Gene

C-type lectin domain family 16, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLEC16A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b · 23c ^
SP1: - - -
SP2:
SP3:
SP4:
SP5:

ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b
SP1: - -
SP2:
SP3: -
SP4:
SP5:

Relevant External Links for CLEC16A Gene

GeneLoc Exon Structure for
CLEC16A
ECgene alternative splicing isoforms for
CLEC16A

Expression for CLEC16A Gene

mRNA expression in normal human tissues for CLEC16A Gene

Protein differential expression in normal tissues from HIPED for CLEC16A Gene

This gene is overexpressed in Cervix (26.8), Islet of Langerhans (18.6), and Peripheral blood mononuclear cells (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CLEC16A Gene



SOURCE GeneReport for Unigene cluster for CLEC16A Gene Hs.35490

mRNA Expression by UniProt/SwissProt for CLEC16A Gene

Q2KHT3-CL16A_HUMAN
Tissue specificity: Almost exclusively expressed in immune cells, including dendritic cells, B-lymphocytes and natural killer cells.
genes like me logo Genes that share expression patterns with CLEC16A: view

Protein tissue co-expression partners for CLEC16A Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CLEC16A Gene

Orthologs for CLEC16A Gene

This gene was present in the common ancestor of animals.

Orthologs for CLEC16A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CLEC16A 35
  • 88.56 (n)
  • 93.04 (a)
CLEC16A 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLEC16A 35
  • 89.62 (n)
  • 93.12 (a)
CLEC16A 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clec16a 35
  • 86.98 (n)
  • 91.28 (a)
Clec16a 16
Clec16a 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLEC16A 35
  • 99.46 (n)
  • 99.53 (a)
CLEC16A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clec16a 35
  • 87.23 (n)
  • 91.21 (a)
oppossum
(Monodelphis domestica)
Mammalia CLEC16A 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLEC16A 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLEC16A 35
  • 75.09 (n)
  • 84.86 (a)
CLEC16A 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLEC16A 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clec16a 35
  • 70.12 (n)
  • 76.56 (a)
Str.6318 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.18966 35
zebrafish
(Danio rerio)
Actinopterygii clec16a 35
  • 71.49 (n)
  • 79.45 (a)
zgc56230 35
clec16a 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002781 35
  • 57.76 (n)
  • 56.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta ema 35
  • 58.02 (n)
  • 56.33 (a)
ema 36
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gop-1 35
  • 48.87 (n)
  • 45.06 (a)
gop-1 36
  • 35 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToOne
Species with no ortholog for CLEC16A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CLEC16A Gene

ENSEMBL:
Gene Tree for CLEC16A (if available)
TreeFam:
Gene Tree for CLEC16A (if available)

Paralogs for CLEC16A Gene

No data available for Paralogs for CLEC16A Gene

Variants for CLEC16A Gene

Sequence variations from dbSNP and Humsavar for CLEC16A Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs2241100 - 11,166,463(+) CAGCG(A/G)GAGCC intron-variant, nc-transcript-variant, reference, missense
rs2040 -- 11,182,056(-) AGAGC(A/G)GTCCC intron-variant, utr-variant-3-prime
rs27832 -- 11,180,991(+) GTGGG(C/T)TTGCA intron-variant, utr-variant-3-prime
rs27833 -- 11,181,051(+) GGGGA(C/T)ACCTC intron-variant, utr-variant-3-prime
rs27834 -- 11,172,017(+) acact(C/T)acaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLEC16A Gene

Variant ID Type Subtype PubMed ID
esv273506 CNV Insertion 20981092
esv270251 CNV Insertion 20981092
nsv103022 CNV Loss 16902084
dgv2603n71 CNV Loss 21882294
nsv525548 CNV Loss 19592680

Variation tolerance for CLEC16A Gene

Residual Variation Intolerance Score: 63.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLEC16A Gene

HapMap Linkage Disequilibrium report
CLEC16A
Human Gene Mutation Database (HGMD)
CLEC16A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLEC16A Gene

Disorders for CLEC16A Gene

MalaCards: The human disease database

(3) MalaCards diseases for CLEC16A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
interleukin-7 receptor alpha deficiency
  • il-7r
diabetes mellitus, insulin-dependent
  • diabetes, type 1
rheumatoid arthritis
  • rheumatoid arthritis, progression of
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CL16A_HUMAN
  • Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: 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. {ECO:0000269 PubMed:17632545, ECO:0000269 PubMed:24949970}. Note=Disease susceptibility is associated with variations 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). {ECO:0000269 PubMed:17632545, ECO:0000269 PubMed:24949970}.

Relevant External Links for CLEC16A

Genetic Association Database (GAD)
CLEC16A
Human Genome Epidemiology (HuGE) Navigator
CLEC16A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLEC16A
genes like me logo Genes that share disorders with CLEC16A: view

No data available for Genatlas for CLEC16A Gene

Publications for CLEC16A Gene

  1. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. (PMID: 17632545) Hakonarson H. … Polychronakos C. (Nature 2007) 2 3 4 48 67
  2. 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. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3
  3. Multiple sclerosis-associated CLEC16A controls HLA class II expression via late endosome biogenesis. (PMID: 25823473) van Luijn M.M. … Hintzen R.Q. (Brain 2015) 3
  4. Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells. (PMID: 25891430) Li J. … Ellinghaus E. (Nat Commun 2015) 3
  5. GWAS-identified multiple sclerosis risk loci involved in immune response: Validation in Russians. (PMID: 25903733) Bashinskaya V.V. … Favorova O.O. (J. Neuroimmunol. 2015) 3

Products for CLEC16A Gene

Sources for CLEC16A Gene

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