UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NBC3
HGNC Symbol:SLC4A8
HGNC Description:solute carrier family 4, sodium bicarbonate cotransporter, member 8
HGNC ID:11034
Superfamily:SLC
Chromosome:Chr.12(+): 51785101-51909547 GRCh37
Location:12q13.13
OMIM:605024
OMIM Phenotype:None
Accessions:AF069512
Nucleotide RefSeq:NM_001039960
Protein RefSeq:NP_001035049
Entrez:9498
Ensembl:ENSG00000050438
Isoforms:5
Evidence:Substrate In Vitro Evidence: 1. Sodium CO2/HCO3 - Chloride exchanger, Oocytes, Grichtchenko I et al, JBC, 2001: 8358-63 Tissue Distribution Evidence: 1. brain and testis > kidney > ovary - Grichtchenko I et al, JBC, 2001: 8358-63
Tissues:brain and spinal column, with moderate levels in trachea, thyroid, and kidney (medulla)
Type:protein-coding
Sets:0
PharmGKB ID:PA35900
HPRD ID:05430
Substrates:electroneutral Na+-driven Cl- HCO3-exchanger
Trivial Names:NBC3, NDCBE
Transcripts:NM_001039960.2 [Chr.12(+): 51818594-51909547 GRCh37]
NM_001258401.2 [Chr.12(+): 51785101-51909547 GRCh37]
NM_001267615.1 [Chr.12(+): 51785101-51868361 GRCh37]
NM_001258402.1 [Chr.12(+): 51818594-51868361 GRCh37]
NM_001258403.1 [Chr.12(+): 51818901-51874391 GRCh37]
ENST00000319957 [Chr.12(+): 51818757-51891646 GRCh37]
ENST00000358657 [Chr.12(+): 51796945-51891646 GRCh37]
ENST00000394856 [Chr.12(+): 51818594-51874006 GRCh37]
ENST00000453097 [Chr.12(+): 51818555-51902118 GRCh37]
ENST00000514353 [Chr.12(+): 51818901-51874394 GRCh37]
ENST00000535225 [Chr.12(+): 51785101-51868359 GRCh37]
ENST00000546497 [Chr.12(+): 51818718-51834636 GRCh37]
ENST00000546663 [Chr.12(+): 51862853-51865364 GRCh37]
ENST00000546872 [Chr.12(+): 51888657-51891017 GRCh37]
ENST00000546875 [Chr.12(+): 51895612-51902980 GRCh37]
ENST00000547697 [Chr.12(+): 51785520-51856676 GRCh37]
ENST00000548352 [Chr.12(+): 51813884-51847370 GRCh37]
ENST00000548616 [Chr.12(+): 51888135-51888802 GRCh37]
ENST00000548811 [Chr.12(+): 51818652-51834963 GRCh37]
ENST00000550211 [Chr.12(+): 51855002-51863465 GRCh37]
ENST00000551071 [Chr.12(+): 51834492-51891646 GRCh37]
ENST00000552001 [Chr.12(+): 51844612-51851227 GRCh37]
ENST00000604314 [Chr.12(+): 51785132-51891648 GRCh37]
Annotation History:View Events (47)

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 SLC4A8.

Variant Data

View all PMT variants for SLC4A8 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.