UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:ZNT4
HGNC Symbol:SLC30A4
HGNC Description:solute carrier family 30 (zinc transporter), member 4
HGNC ID:11015
Superfamily:SLC
Chromosome:Chr.15(-): 45774676-45815005 GRCh37
Location:15q21.1
OMIM:602095
OMIM Phenotype:None
Accessions:AA485220,AC025580,BC026089
Nucleotide RefSeq:NM_013309
Protein RefSeq:NP_037441
Entrez:7782
Ensembl:ENSG00000104154
Isoforms:2
Evidence:Substrate In Vitro Evidence: Zinc, expression of ZNT4 in a zinc-sensitive yeast cell line restored zinc resistance Huang et al 1997, Nature Genetics, Vol 17 (3), p. 292-97 Substrate In Vivo Evidence: A defect in ZNT4 is responsible for the lethal milk mouse. In this syndrome the mothers live, but the pups demonstrate zinc deficiency from feeding on the mother's milk and are unable to survive. Huang et al 1997, Nature Genetics, Vol 17 (3), p. 292-97 Tissue Distribution Evidence: Ubiquitous distribution by Northern analysis in rats Liuzzi et al 2001, Journal of Nutrition, Vol 131, p.46-52
Tissues:widespread, secretory glands (by mRNA analysis in rodents)
Type:protein-coding
Sets:0
PharmGKB ID:PA35885
HPRD ID:03651
Substrates:Zinc
Trivial Names:ZNT4
Transcripts:NM_013309.4 [Chr.15(-): 45774676-45815002 GRCh37]
XM_005254656.1 [Chr.15(-): 45774676-45815005 GRCh37]
ENST00000261867 [Chr.15(-): 45771809-45815005 GRCh37]
ENST00000559667 [Chr.15(-): 45795029-45814434 GRCh37]
Annotation History:View Events (10)

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 SLC30A4.

Variant Data

View all PMT variants for SLC30A4 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.