CLPTM1 (CLPTM1 regulator of GABA type A receptor forward trafficking)

2007-02-01  

Identity

HGNC
CLPTM1
LOCATION
19q13.32
LOCUSID
1209
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1209
MIM: 604783
HGNC: 2087
Ensembl: ENSG00000104853

Variants:

dbSNP: 1209
ClinVar: 1209
TCGA: ENSG00000104853
COSMIC: CLPTM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104853ENST00000337392O96005
ENSG00000104853ENST00000337392A0A0S2Z3H2
ENSG00000104853ENST00000541297O96005
ENSG00000104853ENST00000546079O96005
ENSG00000104853ENST00000585961K7EKQ7
ENSG00000104853ENST00000586915K7ERL5
ENSG00000104853ENST00000589347K7EJ16
ENSG00000104853ENST00000591304K7EQQ1

Expression (GTEx)

0
50
100
150
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
375777612023De novo CLPTM1 variants with reduced GABA(A) R current response in patients with epilepsy.0
375777612023De novo CLPTM1 variants with reduced GABA(A) R current response in patients with epilepsy.0
306357922019Pathobiological role of cleft palate transmembrane protein 1 family proteins in oral squamous cell carcinoma.9
310098122019Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5(p)15.33 TERT-CLPTM1Ll Region.21
312035672019Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers.0
306357922019Pathobiological role of cleft palate transmembrane protein 1 family proteins in oral squamous cell carcinoma.9
310098122019Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5(p)15.33 TERT-CLPTM1Ll Region.21
312035672019Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers.0
290331872017A TERT-CLPTM1 locus polymorphism (rs401681) is associated with EGFR mutation in non-small cell lung cancer.5
290331872017A TERT-CLPTM1 locus polymorphism (rs401681) is associated with EGFR mutation in non-small cell lung cancer.5
254576342014Long telomere length and a TERT-CLPTM1 locus polymorphism association with melanoma risk.20
254576342014Long telomere length and a TERT-CLPTM1 locus polymorphism association with melanoma risk.20
199376002010Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.28
205728542010MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15

Citation

Dessen P

CLPTM1 (CLPTM1 regulator of GABA type A receptor forward trafficking)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45641/favicon/js/lib/bootstrap.min.js