PRRC2A (proline rich coiled-coil 2A)

2013-02-01  

Identity

HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
BAT2,D6S51,D6S51E,G2
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

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

References

Pubmed IDYearTitleCitations
191159492009Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).119
202055912010Host determinants of HIV-1 control in African Americans.80
178273882007Genetic variation in 1253 immune and inflammation genes and risk of non-Hodgkin lymphoma.67
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
200986152010Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.20
191169232009Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci.19
206161992010Evaluation of genetic susceptibility loci for obesity in Chinese women.19
206161992010Evaluation of genetic susceptibility loci for obesity in Chinese women.19
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.16

Citation

Dessen P

PRRC2A (proline rich coiled-coil 2A)

Atlas Genet Cytogenet Oncol Haematol. 2013-02-01

Online version: http://atlasgeneticsoncology.org/gene/53192/prrc2a