Format

Send to:

Choose Destination

CLEC16A C-type lectin domain family 16 member A [ Homo sapiens (human) ]

Gene ID: 23274, updated on 22-May-2016
Official Symbol
CLEC16Aprovided by HGNC
Official Full Name
C-type lectin domain family 16 member Aprovided by HGNC
Primary source
HGNC:HGNC:29013
See related
Ensembl:ENSG00000038532 HPRD:17185; MIM:611303; Vega:OTTHUMG00000152915
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Gop-1; KIAA0350
Summary
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]
Orthologs
Location:
16p13.13
Exon count:
33
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (10944488..11193278)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (11038345..11276046)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371080 Neighboring gene class II, major histocompatibility complex, transactivator Neighboring gene Dexi homolog Neighboring gene ribosomal protein L7 pseudogene 46 Neighboring gene uncharacterized LOC105371081 Neighboring gene uncharacterized LOC105371082 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 4 Neighboring gene suppressor of cytokine signaling 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
NHGRI GWA Catalog
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
NHGRI GWA Catalog
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
NHGRI GWA Catalog
Common variants at ten loci influence QT interval duration in the QTGEN Study.
NHGRI GWA Catalog
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
NHGRI GWA Catalog
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
NHGRI GWA Catalog
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
NHGRI GWA Catalog
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
NHGRI GWA Catalog
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
NHGRI GWA Catalog
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
NHGRI GWA Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
NHGRI GWA Catalog
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
NHGRI GWA Catalog
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
NHGRI GWA Catalog
Multiple common variants for celiac disease influencing immune gene expression.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Risk alleles for multiple sclerosis identified by a genomewide study.
NHGRI GWA Catalog
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0350, MGC111457

Gene Ontology Provided by GOA

Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein CLEC16A
Names
C-type lectin domain family 16, member A

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016757.1 RefSeqGene

    Range
    5001..242702
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243403.1NP_001230332.1  protein CLEC16A isoform 2

    See identical proteins and their annotated locations for NP_001230332.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, uses an alternate in-frame splice site and differs in the 3' coding region and UTR compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC112897, BX374760, DB062118, DB069341
    Consensus CDS
    CCDS58423.1
    UniProtKB/Swiss-Prot
    Q2KHT3
    Related
    ENSP00000386495, OTTHUMP00000202698, ENST00000409552, OTTHUMT00000328542
    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  2. NM_015226.2NP_056041.1  protein CLEC16A isoform 1

    See identical proteins and their annotated locations for NP_056041.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AB002348, AW072095, DB069341
    Consensus CDS
    CCDS45409.1
    UniProtKB/Swiss-Prot
    Q2KHT3
    Related
    ENSP00000387122, OTTHUMP00000202696, ENST00000409790, OTTHUMT00000328540
    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    10944488..11193278
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522435.1XP_011520737.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  2. XM_005255214.1XP_005255271.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  3. XM_011522434.1XP_011520736.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  4. XM_005255211.1XP_005255268.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  5. XM_005255210.1XP_005255267.1  

    See identical proteins and their annotated locations for XP_005255267.1

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  6. XM_005255213.1XP_005255270.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  7. XM_005255215.3XP_005255272.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  8. XM_005255216.1XP_005255273.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  9. XM_011522438.1XP_011520740.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  10. XM_011522436.1XP_011520738.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  11. XM_011522437.1XP_011520739.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  12. XM_011522440.1XP_011520742.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  13. XM_011522439.1XP_011520741.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein
  14. XM_006720870.2XP_006720933.1  

    Conserved Domains (1) summary
    pfam09758
    Location:51199
    FPL; Uncharacterized conserved protein

RNA

  1. XR_932810.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    11038266..11275979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)