UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:None
HGNC Symbol:TPH2
HGNC Description:tryptophan hydroxylase 2
HGNC ID:20692
Superfamily:None
Chromosome:Chr.12(+): 72332626-72426221 GRCh37
Location:12q21.1
OMIM:607478
OMIM Phenotype:None
Accessions:None
Nucleotide RefSeq:NM_173353
Protein RefSeq:NP_775489
Entrez:121278
Ensembl:ENSG00000139287
Isoforms:2
Evidence:None
Tissues:None
Type:protein-coding
Sets:None
PharmGKB ID:PA128747823
HPRD ID:09594
Substrates:None
Trivial Names:NTPH, ADHD7
Transcripts:NM_173353.3 [Chr.12(+): 72332626-72426221 GRCh37]
XM_005268642.1 [Chr.12(+): 72332689-72425575 GRCh37]
ENST00000333850 [Chr.12(+): 72332626-72426221 GRCh37]
ENST00000546576 [Chr.12(+): 72332757-72359270 GRCh37]
ENST00000547278 [Chr.12(+): 72425094-72556932 GRCh37]
ENST00000547348 [Chr.12(+): 72425072-72580398 GRCh37]
ENST00000550403 [Chr.12(+): 72425052-72534222 GRCh37]
ENST00000551074 [Chr.12(+): 72425079-72541614 GRCh37]

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for TPH2.

Variant Data

View all PMT variants for TPH2 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction: TOPO2 image is not available.