PCMTD1 (protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1)

2014-11-01  

Identity

HGNC
PCMTD1
LOCATION
8q11.23
LOCUSID
115294
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 115294
HGNC: 30483
Ensembl: ENSG00000168300

Variants:

dbSNP: 115294
ClinVar: 115294
TCGA: ENSG00000168300
COSMIC: PCMTD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168300ENST00000360540Q96MG8
ENSG00000168300ENST00000519554H0YBU4
ENSG00000168300ENST00000521344E5RGG7
ENSG00000168300ENST00000522514Q96MG8
ENSG00000168300ENST00000544451F5H1M8

Expression (GTEx)

0
10
20
30
40
50
60
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
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
235053052013Genotype-phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye Study.5
238473142013Association study in a South Indian population supports rs1015213 as a risk factor for primary angle closure.3
244742682014Genotype-phenotype correlation analysis for three primary angle closure glaucoma-associated genetic polymorphisms.3
293109652018Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease.3
303772062019Characterization of Squamous Cell Lung Cancers from Appalachian Kentucky.1
274550182016[Association of PLEKHA7, COL11A1 and PCMTD1-ST18 gene polymorphisms with primary angle closure glaucoma in ethnic Han Chinese from Sichuan].0

Citation

Dessen P

PCMTD1 (protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71764/pcmtd1-(protein-l-isoaspartate-(d-aspartate)-o-methyltransferase-domain-containing-1)