UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC34A2
HGNC Symbol:SLC34A2
HGNC Description:solute carrier family 34 (type II sodium/phosphate contransporter), member 2
HGNC ID:11020
Superfamily:SLC
Chromosome:Chr.4(+): 25656853-25680735 GRCh37
Location:4p15.2
OMIM:604217
OMIM Phenotype:None
Accessions:NM_006424
Nucleotide RefSeq:NM_006424
Protein RefSeq:NP_006415
Entrez:10568
Ensembl:ENSG00000157765
Isoforms:5
Evidence:Substrate In Vitro Evidence: Pi, several expression systems Murer et al 2003, Pflugers Arch Substrate In Vivo Evidence: SLC34A2 may be the transporter responsible for the absorption of Pi in the intestine. It could represent a possible target for treatment of hyperphosphatemia Murer et al 2003, Pflugers Arch Tissue Distribution Evidence: Most epithelial tissues contain SLC34A2 (highest in lung) by Northern Blot Field et al 1999, Biochem Biophys Res Commun, Vol 258, p.578-82 By immunofluorescence, SLC34A2 was localized in brush borders of enterocytes, in the apical pole of alveolar type ll cells as well as in apical membranes of mammary secretory cells Murer et al 2003, Pflugers Arch
Tissues:small intestine, lung, testis, liver, secreting mammary gland
Type:protein-coding
Sets:V
PharmGKB ID:PA35888
HPRD ID:07251
Substrates:Inorganic Phosphate
Trivial Names:NPTIIb, NAPI-3B, NAPI-IIb
Transcripts:NM_006424.2 [Chr.4(+): 25657435-25680370 GRCh37]
NM_001177998.1 [Chr.4(+): 25657435-25680370 GRCh37]
NM_001177999.1 [Chr.4(+): 25658086-25680370 GRCh37]
XM_005248128.1 [Chr.4(+): 25656853-25680735 GRCh37]
XM_005248129.1 [Chr.4(+): 25658091-25680735 GRCh37]
ENST00000382051 [Chr.4(+): 25657466-25680370 GRCh37]
ENST00000503434 [Chr.4(+): 25658086-25678371 GRCh37]
ENST00000504570 [Chr.4(+): 25657444-25678391 GRCh37]
ENST00000507530 [Chr.4(+): 25658091-25667853 GRCh37]
ENST00000510033 [Chr.4(+): 25666516-25671315 GRCh37]
ENST00000513204 [Chr.4(+): 25656923-25667862 GRCh37]
Annotation History:View Events (20)

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 SLC34A2.

Variant Data

View all PMT variants for SLC34A2 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.