UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC34A1
HGNC Symbol:SLC34A1
HGNC Description:solute carrier family 34 (type II sodium/phosphate contransporter), member 1
HGNC ID:11019
Superfamily:SLC
Chromosome:Chr.5(+): 176811432-176825849 GRCh37
Location:5q35
OMIM:182309
OMIM Phenotype:Urolithiasis, hypophosphatemic; osteoporosis, hypophosphatemic
Accessions:NM_003052
Nucleotide RefSeq:NM_003052
Protein RefSeq:NP_003043
Entrez:6569
Ensembl:ENSG00000131183
Isoforms:6
Evidence:Substrate In Vitro Evidence: Pi, by expression of the rat ortholog in X. laevis oocytes Magagnin et al 1993, PNAS, Vol 90 (13), p. 5979-83 Pi, expression of human and other orthologs in X. laevis oocytes Murer et al 2000, Physiological Reviews, Vol 80 (4), p. 1373-1409 Substrate In Vivo Evidence: Npt2 K.O. mice exhibit severe hypophosphatemia that is explained by an approximately 70% decrease of brush-border membrane Na/Pi cotransport Murer et al 2003, Pflugers Arch Beck et al 1998, PNAS, Vol 95, p.5372-77 Other genes are involved in the regulation of SLC34A1. The relative abundance of SLC34A1 is believed to be involved in several disorders such as: XLH (X-linked hypophosphatemia) and ADHR (autosomal dominant hypophosphatemic rickets) and studies related to the acquired disorder OHO (oncogenic hypophosphatemic osteomalacia) Murer et al 2003, Pflugers Arch Tissue Distribution Evidence: Brush border of proximal tubular cells (in rat) by immunofluorescence Custer et al 1994, Am J Physiol, Vol 266 (5 Pt 2), p.F767-74
Tissues:kidney, neurons, osteoclasts
Type:protein-coding
Sets:V
PharmGKB ID:PA35887
HPRD ID:08918
Substrates:Inorganic Phosphate
Trivial Names:NPT2, FRTS2, SLC11, NAPI-3, NPTIIa, NPHLOP1, SLC17A2
Transcripts:NM_003052.4 [Chr.5(+): 176811432-176825849 GRCh37]
NM_001167579.1 [Chr.5(+): 176811432-176817514 GRCh37]
XM_005265974.1 [Chr.5(+): 176811439-176825849 GRCh37]
XM_005265973.1 [Chr.5(+): 176812696-176825849 GRCh37]
XM_005265975.1 [Chr.5(+): 176812696-176825849 GRCh37]
XM_005265976.1 [Chr.5(+): 176812696-176817514 GRCh37]
ENST00000324417 [Chr.5(+): 176811445-176825849 GRCh37]
ENST00000504577 [Chr.5(+): 176806236-176813291 GRCh37]
ENST00000507685 [Chr.5(+): 176811452-176824306 GRCh37]
ENST00000512593 [Chr.5(+): 176811435-176817514 GRCh37]
ENST00000513614 [Chr.5(+): 176816648-176825841 GRCh37]
Annotation History:View Events (35)

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 SLC34A1.

Variant Data

View all PMT variants for SLC34A1 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.