MCTP1 (multiple C2 and transmembrane domain containing 1)

2014-11-01  

Identity

HGNC
MCTP1
LOCATION
5q15
LOCUSID
79772
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79772
MIM: 616296
HGNC: 26183
Ensembl: ENSG00000175471

Variants:

dbSNP: 79772
ClinVar: 79772
TCGA: ENSG00000175471
COSMIC: MCTP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175471ENST00000312216Q6DN14
ENSG00000175471ENST00000429576Q6DN14
ENSG00000175471ENST00000503301H0Y9Y6
ENSG00000175471ENST00000505078Q6DN14
ENSG00000175471ENST00000505208Q6DN14
ENSG00000175471ENST00000505465D6RC97
ENSG00000175471ENST00000506568H0YA70
ENSG00000175471ENST00000507214H0Y9S8
ENSG00000175471ENST00000508509D6RA42
ENSG00000175471ENST00000510732D6R8Z9
ENSG00000175471ENST00000512425E5RJR1
ENSG00000175471ENST00000514780H0Y8M9
ENSG00000175471ENST00000515393Q6DN14

Expression (GTEx)

0
5
10
15
20
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

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
155282132005Evolutionarily conserved multiple C2 domain proteins with two transmembrane regions (MCTPs) and unusual Ca2+ binding properties.30
261951402015Multiple C2 domains transmembrane protein 1 is expressed in CNS neurons and possibly regulates cellular vesicle retrieval and oxidative stress.6
280404102017A genome wide association study of fast beta EEG in families of European ancestry.1

Citation

Dessen P

MCTP1 (multiple C2 and transmembrane domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68855/mctp1