CNPY3 (canopy FGF signaling regulator 3)

2014-11-01  

Identity

HGNC
CNPY3
LOCATION
6p21.1
LOCUSID
10695
ALIAS
CAG4A,DEE60,EIEE60,ERDA5,PRAT4A,TNRC5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10695
MIM: 610774
HGNC: 11968
Ensembl: ENSG00000137161

Variants:

dbSNP: 10695
ClinVar: 10695
TCGA: ENSG00000137161
COSMIC: CNPY3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137161ENST00000372836Q9BT09
ENSG00000137161ENST00000394142A0A0C4DFY8

Expression (GTEx)

0
50
100
150
200
250
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

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Trafficking and processing of endosomal TLRREACTOMER-HSA-1679131

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
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
369312082023A novel rare variant of CNPY3 from familial NMOSD impairs the TLR-mediated immune response.1
369312082023A novel rare variant of CNPY3 from familial NMOSD impairs the TLR-mediated immune response.1
353341242022The TLR-chaperone CNPY3 is a critical regulator of NLRP3-inflammasome activation.3
353341242022The TLR-chaperone CNPY3 is a critical regulator of NLRP3-inflammasome activation.3
293949912018Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.6
293949912018Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.6
224479332012Cell surface trafficking of TLR1 is differentially regulated by the chaperones PRAT4A and PRAT4B.16
224479332012Cell surface trafficking of TLR1 is differentially regulated by the chaperones PRAT4A and PRAT4B.16

Citation

Dessen P

CNPY3 (canopy FGF signaling regulator 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61953/haematological-explorer/meetings/js/lib/bootstrap.min.js