Summary ?
GeneID5145
SymbolPDE6A
SynonymsCGPR-A|PDEA|RP43
Descriptionphosphodiesterase 6A
ReferenceMIM:180071|HGNC:HGNC:8785|Ensembl:ENSG00000132915|HPRD:01570|Vega:OTTHUMG00000130047
Gene typeprotein-coding
Map location5q31.2-q34
Pascal p-value0.018
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
GSMA_IGenome scan meta-analysisPsr: 0.0032 
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01718 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.00459 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4864466chr454403975PDE6A51450.12trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0016787hydrolase activityIEA-
GO:00475553',5'-cyclic-GMP phosphodiesterase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007165signal transductionIEA-
GO:0007601visual perceptionTAS7493036 
GO:0050896response to stimulusIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005886plasma membraneIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG PURINE METABOLISM 15996All SZGR 2.0 genes in this pathway
ST WNT CA2 CYCLIC GMP PATHWAY 2014All SZGR 2.0 genes in this pathway
PID RHODOPSIN PATHWAY 2410All SZGR 2.0 genes in this pathway
REACTOME CGMP EFFECTS 1913All SZGR 2.0 genes in this pathway
REACTOME NITRIC OXIDE STIMULATES GUANYLATE CYCLASE 2519All SZGR 2.0 genes in this pathway
REACTOME PLATELET HOMEOSTASIS 7849All SZGR 2.0 genes in this pathway
REACTOME HEMOSTASIS 466331All SZGR 2.0 genes in this pathway
SABATES COLORECTAL ADENOMA DN 291176All SZGR 2.0 genes in this pathway
ODONNELL METASTASIS UP 8258All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS DN 357212All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882572All SZGR 2.0 genes in this pathway
NGUYEN NOTCH1 TARGETS DN 8667All SZGR 2.0 genes in this pathway
HOEGERKORP CD44 TARGETS DIRECT UP 2721All SZGR 2.0 genes in this pathway
JAZAERI BREAST CANCER BRCA1 VS BRCA2 DN 4331All SZGR 2.0 genes in this pathway
RAMASWAMY METASTASIS DN 6147All SZGR 2.0 genes in this pathway
FOSTER KDM1A TARGETS UP 266142All SZGR 2.0 genes in this pathway