PRRT2 (proline rich transmembrane protein 2)

2017-08-01  

Identity

HGNC
PRRT2
LOCATION
16p11.2
LOCUSID
112476
ALIAS
BFIC2,BFIS2,DSPB3,DYT10,EKD1,FICCA,ICCA,IFITMD1,PKC

Other Information

Locus ID:

NCBI: 112476
MIM: 614386
HGNC: 30500
Ensembl: ENSG00000167371

Variants:

dbSNP: 112476
ClinVar: 112476
TCGA: ENSG00000167371
COSMIC: PRRT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167371ENST00000300797Q7Z6L0
ENSG00000167371ENST00000358758Q7Z6L0
ENSG00000167371ENST00000562148H3BN10
ENSG00000167371ENST00000567551A0A1B0GTS0
ENSG00000167371ENST00000567659Q7Z6L0
ENSG00000167371ENST00000572820Q7Z6L0
ENSG00000167371ENST00000636131Q7Z6L0
ENSG00000167371ENST00000636246A0A1B0GU37
ENSG00000167371ENST00000636619A0A1B0GTE9
ENSG00000167371ENST00000636902A0A1B0GU25
ENSG00000167371ENST00000637064Q7Z6L0
ENSG00000167371ENST00000637290A0A1B0GUW9
ENSG00000167371ENST00000637403A0A1B0GTP1
ENSG00000167371ENST00000637565A0A1B0GUR0
ENSG00000167371ENST00000637596A0A1B0GTR2
ENSG00000167371ENST00000647876Q7Z6L0

Expression (GTEx)

0
100
200
300
400
500
600
700
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
221016812011Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.103
221201462011Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.71
228321032012Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.67
222439672012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.55
265984932015The evolving spectrum of PRRT2-associated paroxysmal diseases.38
230770242012PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.31
221313612012Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.27
233604692013Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.25
222097612012Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.24
230770262012PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.22

Citation

Dessen P

PRRT2 (proline rich transmembrane protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/57014/prrt2