UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:ZNT5
HGNC Symbol:SLC30A5
HGNC Description:solute carrier family 30 (zinc transporter), member 5
HGNC ID:19089
Superfamily:SLC
Chromosome:Chr.5(+): 68389776-68426899 GRCh37
Location:5q12.1
OMIM:607819
OMIM Phenotype:None
Accessions:AF461760
Nucleotide RefSeq:NM_022902
Protein RefSeq:NP_075053
Entrez:64924
Ensembl:ENSG00000145740
Isoforms:4
Evidence:Substrate In Vitro Evidence: Zinc, when expressed in X. laevis oocytes Cragg et al 2002, JBC, Vol 277 (25), p.22789-22797 Tissue Distribution Evidence: Detected in all mouse tissues tested via RT-PCR Cragg et al 2002, JBC, Vol 277 (25), p.22789-22797 Detected in all human tissues tested, abundant in pancreas, showed some localization in the Golgi apparatus (Northern Blot, Immunofluoresence) Kambe et al 2002, JBC, Vol 277 (21), p.19049-19055
Tissues:widespread, beta cells
Type:protein-coding
Sets:0
PharmGKB ID:PA134865113
HPRD ID:06381
Substrates:Zinc (by association)
Trivial Names:ZNT5, ZTL1, ZNTL1, ZnT-5
Transcripts:NM_022902.4 [Chr.5(+): 68389776-68426899 GRCh37]
NM_024055.4 [Chr.5(+): 68389776-68400567 GRCh37]
XM_005248569.1 [Chr.5(+): 68389776-68426858 GRCh37]
NM_001251969.1 [Chr.5(+): 68389776-68400567 GRCh37]
ENST00000380860 [Chr.5(+): 68389818-68400567 GRCh37]
ENST00000396591 [Chr.5(+): 68389473-68426896 GRCh37]
ENST00000502979 [Chr.5(+): 68390025-68400261 GRCh37]
ENST00000504103 [Chr.5(+): 68389916-68400522 GRCh37]
ENST00000507354 [Chr.5(+): 68398399-68419366 GRCh37]
ENST00000511158 [Chr.5(+): 68419170-68425953 GRCh37]
ENST00000512367 [Chr.5(+): 68414199-68417722 GRCh37]
ENST00000513937 [Chr.5(+): 68413170-68419247 GRCh37]
Annotation History:View Events (27)

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 SLC30A5.

Variant Data

View all PMT variants for SLC30A5 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:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.