UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:BTR1
HGNC Symbol:SLC4A11
HGNC Description:solute carrier family 4, sodium borate transporter, member 11
HGNC ID:16438
Superfamily:SLC
Chromosome:Chr.20(-): 3208063-3222109 GRCh37
Location:20p12
OMIM:610206
OMIM Phenotype:None
Accessions:AF336127
Nucleotide RefSeq:NM_032034
Protein RefSeq:NP_114423
Entrez:83959
Ensembl:ENSG00000088836
Isoforms:6
Evidence:Tissue Distribution Evidence: 1. Predominantly expressed in the kidney, salivary glands, testis, thyroid glands, and trachea. Parker, MD; Ourmozdi, EP; Tanner MJ. Biochem Biophys Res Comm 2001 Apr 20, 282(5):1103-9 PMID 11302728.
Tissues:kidney, salivary glands, testis, thyroid glands, trachea
Type:protein-coding
Sets:0
PharmGKB ID:PA38139
HPRD ID:15392
Substrates:None
Trivial Names:BTR1, CDPD1, CHED2, NABC1, dJ794I6.2
Transcripts:NM_032034.3 [Chr.20(-): 3208063-3218373 GRCh37]
NM_001174089.1 [Chr.20(-): 3208063-3219887 GRCh37]
NM_001174090.1 [Chr.20(-): 3208063-3218835 GRCh37]
XM_005260858.1 [Chr.20(-): 3208068-3222109 GRCh37]
XM_005260856.1 [Chr.20(-): 3208068-3219593 GRCh37]
XM_005260857.1 [Chr.20(-): 3208068-3219359 GRCh37]
ENST00000380056 [Chr.20(-): 3208063-3218373 GRCh37]
ENST00000380059 [Chr.20(-): 3208063-3218812 GRCh37]
ENST00000437836 [Chr.20(-): 3214881-3219359 GRCh37]
ENST00000470631 [Chr.20(-): 3210317-3211206 GRCh37]
ENST00000474451 [Chr.20(-): 3208144-3219836 GRCh37]
ENST00000488544 [Chr.20(-): 3209574-3210422 GRCh37]
ENST00000539553 [Chr.20(-): 3208282-3219836 GRCh37]
Annotation History:View Events (28)

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 SLC4A11.

Variant Data

View all PMT variants for SLC4A11 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.