CLEC16A (C-type lectin domain containing 16A)

2014-11-01  

Identity

HGNC
CLEC16A
LOCATION
16p13.13
LOCUSID
23274
ALIAS
Gop-1,KIAA0350
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23274
MIM: 611303
HGNC: 29013
Ensembl: ENSG00000038532

Variants:

dbSNP: 23274
ClinVar: 23274
TCGA: ENSG00000038532
COSMIC: CLEC16A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000038532ENST00000261657H7BXG1
ENSG00000038532ENST00000409552Q2KHT3
ENSG00000038532ENST00000409790Q2KHT3
ENSG00000038532ENST00000428742H7BZI2
ENSG00000038532ENST00000436973H7BZJ9
ENSG00000038532ENST00000459723A0A2R8YDG4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
192649852009Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.405
198381952009A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.316
190739672008Shared and distinct genetic variants in type 1 diabetes and celiac disease.249
176325452007A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.201
176325452007A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.201
195259552009Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.185
198791942009Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score.80
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
249499702014The diabetes susceptibility gene Clec16a regulates mitophagy.53
189876462009The expanding genetic overlap between multiple sclerosis and type I diabetes.49

Citation

Dessen P

CLEC16A (C-type lectin domain containing 16A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61865/clec16a