TMTC2 (transmembrane O-mannosyltransferase targeting cadherins 2)

2014-10-01  

Identity

HGNC
LOCATION
12q21.31
LOCUSID
ALIAS
IBDBP1
FUSION GENES

Other Information

Locus ID:

NCBI: 160335
MIM: 615856
HGNC: 25440
Ensembl: ENSG00000179104

Variants:

dbSNP: 160335
ClinVar: 160335
TCGA: ENSG00000179104
COSMIC: TMTC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179104ENST00000321196Q8N394
ENSG00000179104ENST00000546590F8VRQ2
ENSG00000179104ENST00000548305F8VSH2
ENSG00000179104ENST00000549919A0A0B4J253

Expression (GTEx)

0
5
10
15
20
25

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
193866012009Genome-wide association of hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha DNA binding with expression profiling of hypoxia-inducible transcripts.212
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
196256182009Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population.41
247643052014TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins involved in calcium homeostasis.16
273111062016Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.6
307298512019Polymorphism rs7961953 in TMTC2 gene is not associated with primary open-angle glaucoma in a Saudi cohort.1
310949272019Metastasizing Pleomorphic Adenoma: Recurrent PLAG1/HMGA2 Rearrangements and Identification of a Novel HMGA2-TMTC2 Fusion.0

Citation

Dessen P

TMTC2 (transmembrane O-mannosyltransferase targeting cadherins 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-10-01

Online version: http://atlasgeneticsoncology.org/gene/54938/tmtc2-(transmembrane-o-mannosyltransferase-targeting-cadherins-2)