UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:None
HGNC Symbol:SLC4A7
HGNC Description:solute carrier family 4, sodium bicarbonate cotransporter, member 7
HGNC ID:11033
Superfamily:SLC
Chromosome:Chr.3(-): 27414212-27525911 GRCh37
Location:3p22
OMIM:603353
OMIM Phenotype:None
Accessions:None
Nucleotide RefSeq:NM_003615
Protein RefSeq:NP_003606
Entrez:9497
Ensembl:ENSG00000033867
Isoforms:15
Evidence:None
Tissues:human retina, testis, spleen, ovary, small intestine, colon, thymus, heart, and muscle
Type:protein-coding
Sets:None
PharmGKB ID:PA35899
HPRD ID:04521
Substrates:sodium bicarbonate
Trivial Names:NBC2, NBC3, SBC2, NBCN1, SLC4A6
Transcripts:NM_003615.4 [Chr.3(-): 27414212-27498245 GRCh37]
XM_005265599.1 [Chr.3(-): 27414212-27525911 GRCh37]
XM_005265595.1 [Chr.3(-): 27414212-27525911 GRCh37]
XM_005265602.1 [Chr.3(-): 27414212-27525911 GRCh37]
XM_005265601.1 [Chr.3(-): 27414212-27525911 GRCh37]
NM_001258379.1 [Chr.3(-): 27414212-27525911 GRCh37]
XM_005265592.1 [Chr.3(-): 27414212-27525837 GRCh37]
XM_005265594.1 [Chr.3(-): 27414212-27525836 GRCh37]
XM_005265593.1 [Chr.3(-): 27414212-27525836 GRCh37]
XM_005265597.1 [Chr.3(-): 27414212-27525834 GRCh37]
XM_005265596.1 [Chr.3(-): 27414212-27498468 GRCh37]
XM_005265600.1 [Chr.3(-): 27414212-27498465 GRCh37]
XM_005265598.1 [Chr.3(-): 27414212-27498465 GRCh37]
NM_001258380.1 [Chr.3(-): 27414212-27498245 GRCh37]
XM_005265603.1 [Chr.3(-): 27414212-27472872 GRCh37]
ENST00000295736 [Chr.3(-): 27414214-27498245 GRCh37]
ENST00000388777 [Chr.3(-): 27418097-27525838 GRCh37]
ENST00000419036 [Chr.3(-): 27414214-27465577 GRCh37]
ENST00000425128 [Chr.3(-): 27418097-27525838 GRCh37]
ENST00000428005 [Chr.3(-): 27465132-27525911 GRCh37]
ENST00000428179 [Chr.3(-): 27427383-27498245 GRCh37]
ENST00000428386 [Chr.3(-): 27414214-27498245 GRCh37]
ENST00000435667 [Chr.3(-): 27418097-27525838 GRCh37]
ENST00000437179 [Chr.3(-): 27418097-27525838 GRCh37]
ENST00000437266 [Chr.3(-): 27418255-27525911 GRCh37]
ENST00000438530 [Chr.3(-): 27418097-27525838 GRCh37]
ENST00000440156 [Chr.3(-): 27418097-27525838 GRCh37]
ENST00000445684 [Chr.3(-): 27418097-27525887 GRCh37]
ENST00000446700 [Chr.3(-): 27418097-27525838 GRCh37]
ENST00000454389 [Chr.3(-): 27418097-27525838 GRCh37]
ENST00000455077 [Chr.3(-): 27418097-27525838 GRCh37]
ENST00000457377 [Chr.3(-): 27418097-27525838 GRCh37]
ENST00000465487 [Chr.3(-): 27418220-27433336 GRCh37]
ENST00000475120 [Chr.3(-): 27439356-27442535 GRCh37]
ENST00000491211 [Chr.3(-): 27463163-27465993 GRCh37]
Annotation History:View Events (119)

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 SLC4A7.

Variant Data

View all PMT variants for SLC4A7 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.