Gene Page:PAH

Summary?
GeneID 5053
Symbol PAH
Synonyms PH|PKU|PKU1
Description phenylalanine hydroxylase
Reference MIM:612349|HGNC:HGNC:8582|Ensembl:ENSG00000171759|HPRD:08943|Vega:OTTHUMG00000169966
Gene type protein-coding
Map location 12q23.2
Pascal p-value 0.071
Fetal beta -2.927
eGene Cerebellar Hemisphere
Cortex
Frontal Cortex BA9
元

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
PMID:cooccur High-throughput literature-search Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature High-throughput literature-search 与Schizophren Co-occuranceia keywords: schizophrenia,schizophrenic,schizophrenias Click to show details

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

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 function GO term Evidence Neuro keywords PubMed ID
GO:0005506 iron ion binding IEA -
GO:0004497 monooxygenase activity IEA -
GO:0004505 phenylalanine 4-monooxygenase activity TAS 3856322
GO:0016597 amino acid binding IEA -
GO:0046872 metal ion binding IEA -
Biological process GO term Evidence Neuro keywords PubMed ID
GO:0009072 aromatic amino acid family metabolic process IEA -
GO:0008652 amino acid biosynthetic process TAS 3856322
GO:0006559 L-phenylalanine catabolic process IEA -
GO:0055114 oxidation reduction IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG PHENYLALANINE METABOLISM 18 12 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF AMINO ACIDS AND DERIVATIVES 200 136 All SZGR 2.0 genes in this pathway
DIERICK SEROTONIN FUNCTION GENES 6 6 All SZGR 2.0 genes in this pathway
CERVERA SDHB TARGETS 2 114 76 All SZGR 2.0 genes in this pathway
LEE LIVER CANCER CIPROFIBRATE DN 66 43 All SZGR 2.0 genes in this pathway
LEE LIVER CANCER ACOX1 DN 65 39 All SZGR 2.0 genes in this pathway
IIZUKA LIVER CANCER PROGRESSION G2 G3 UP 28 14 All SZGR 2.0 genes in this pathway
LEE LIVER CANCER DENA DN 74 45 All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546 351 All SZGR 2.0 genes in this pathway
GRANDVAUX IRF3 TARGETS DN 19 14 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT UP 390 242 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 1691 1088 All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC UP 202 115 All SZGR 2.0 genes in this pathway
MOLENAAR TARGETS OF CCND1 AND CDK4 UP 67 48 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER RELAPSE IN BONE UP 97 61 All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL CARCINOMA VS ADENOMA DN 24 18 All SZGR 2.0 genes in this pathway
LEE LIVER CANCER SURVIVAL UP 185 112 All SZGR 2.0 genes in this pathway
WOO LIVER CANCER RECURRENCE DN 80 54 All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S3 266 180 All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682 433 All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 UP 344 215 All SZGR 2.0 genes in this pathway
SERVITJA LIVER HNF1A TARGETS DN 157 105 All SZGR 2.0 genes in this pathway