PRRC2A (proline rich coiled-coil 2A)

2013-02-01  

Identity

HGNC
PRRC2A
LOCATION
6p21.33
LOCUSID
7916
ALIAS
BAT2,D6S51,D6S51E,G2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7916
MIM: 142580
HGNC: 13918
Ensembl: ENSG00000204469

Variants:

dbSNP: 7916
ClinVar: 7916
TCGA: ENSG00000204469
COSMIC: PRRC2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204469ENST00000376007P48634
ENSG00000204469ENST00000376007A0A1U9X974
ENSG00000204469ENST00000376033P48634
ENSG00000204469ENST00000376033A0A1U9X974

Expression (GTEx)

0
50
100
150
200
250
300
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD31616045
PA445846ThrombocytopeniaDiseaseClinicalAnnotationassociatedPD31616045
PA448785carbamazepineChemicalClinicalAnnotationassociatedPD16538176
PA448803carboplatinChemicalClinicalAnnotationassociatedPD31616045
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD31616045

References

Pubmed IDYearTitleCitations
369641272023The m6A reader PRRC2A is essential for meiosis I completion during spermatogenesis.9
369641272023The m6A reader PRRC2A is essential for meiosis I completion during spermatogenesis.9
328622412021Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population.5
328622412021Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population.5
251115132014BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT.3
251115132014BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT.3
231210872013Sex-dependent associations of genetic variants identified by GWAS with indices of adiposity and obesity risk in a Chinese children population.12
232211282013Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans.20
231210872013Sex-dependent associations of genetic variants identified by GWAS with indices of adiposity and obesity risk in a Chinese children population.12
232211282013Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans.20
230478212012PRRC2A and BCL2L11 gene variants influence risk of non-Hodgkin lymphoma: results from the InterLymph consortium.26
230799752012Association of MHC class-III gene polymorphisms with ER-positive breast cancer in Chinese Han population.10
230478212012PRRC2A and BCL2L11 gene variants influence risk of non-Hodgkin lymphoma: results from the InterLymph consortium.26
230799752012Association of MHC class-III gene polymorphisms with ER-positive breast cancer in Chinese Han population.10
200986152010Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.28

Citation

Dessen P

PRRC2A (proline rich coiled-coil 2A)

Atlas Genet Cytogenet Oncol Haematol. 2013-02-01

Online version: http://atlasgeneticsoncology.org/gene/53192/css/template-card.css