UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:CAT4
HGNC Symbol:SLC7A4
HGNC Description:solute carrier family 7, member 4
HGNC ID:11062
Superfamily:SLC
Chromosome:Chr.22(-): 21382995-21387163 GRCh37
Location:22q11.21
OMIM:603752
OMIM Phenotype:None
Accessions:AJ000730
Nucleotide RefSeq:NM_004173
Protein RefSeq:NP_004164
Entrez:6545
Ensembl:ENSG00000099960
Isoforms:3
Evidence:None
Tissues:brain, testis, placetna, plasma and intracellular membranes
Type:protein-coding
Sets:0
PharmGKB ID:PA35922
HPRD ID:04780
Substrates:unknown
Trivial Names:VH, CAT4, CAT-4, HCAT3
Transcripts:NM_004173.2 [Chr.22(-): 21383007-21386847 GRCh37]
XM_005261717.1 [Chr.22(-): 21382995-21387163 GRCh37]
XM_005261716.1 [Chr.22(-): 21383007-21386838 GRCh37]
ENST00000382932 [Chr.22(-): 21383007-21386847 GRCh37]
ENST00000403586 [Chr.22(-): 21383007-21386838 GRCh37]
ENST00000426145 [Chr.22(-): 21385857-21387129 GRCh37]
Annotation History:View Events (21)

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 SLC7A4.

Variant Data

View all PMT variants for SLC7A4 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.