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

2007-02-01  

Identity

HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
-
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
199376002010Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.18
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
162475492006PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.17
161025782005Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis.13
206723502010Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
254576342014Long telomere length and a TERT-CLPTM1 locus polymorphism association with melanoma risk.11
205728542010MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.7
161229392005Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate.6

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/clptm1