UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:KNBC
HGNC Symbol:SLC4A4
HGNC Description:solute carrier family 4 (sodium bicarbonate cotransporter), member 4
HGNC ID:11030
Superfamily:SLC
Chromosome:Chr.4(+): 72053003-72437804 GRCh37
Location:4q21
OMIM:603345
OMIM Phenotype:Renal tubular acidosis, proximal, with ocular abnormalities
Accessions:AF007216
Nucleotide RefSeq:NM_001098484
Protein RefSeq:NP_001091954
Entrez:8671
Ensembl:ENSG00000080493
Isoforms:6
Evidence:Substrate In Vitro Evidence: Na+:HCO3- cotransporter (HEK293 cells expressing kNBC; Xenopus laevis oocytes expressing pNBC; Xenopus laevis oocytes expressing hhNBC) Burnham, C. E.; Amlal, H.; Wang, Z.; Shull, G. E.; Soleimani, M. Cloning and functional expression of a human kidney Na+:HCO3- cotransporter. J. Biol. Chem. 272: 19111-19114, 1997. Abuladze, N.; Lee, I.; Newman, D.; Hwang, J.; Boorer, K.; Pushkin, A.; Kurtz, I. Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter. J. Biol. Chem. 273: 17689-17695, 1998. Choi, I.; Romero, M. F.; Khandoudi, N.; Bril, A.; Boron, W. F. Cloning and characterization of a human electrogenic Na(+)-HCO(3-) cotransporter isoform (hhNBC). Am. J. Physiol. 276: C576-C584, 1999. Substrate In Vivo Evidence: Mutations in the SLC4A4 gene cause proximal renal tubular acidosis with bilateral glaucoma, cataracts, and band keratopathy in a patient. Igarashi, T.; Inatomi, J.; Sekine, T.; Cha, S. H.; Kanai, Y.; Kunimi, M.; Tsukamoto, K.; Satoh, H.; Shimadzu, M.; Tozawa, F.; Mori, T.; Shiobara, M.; Seki, G.; Endou, H. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. (Letter) Nature Genet. 23: 264-265, 1999. Tissue Distribution Evidence: kNBC, pNBC, and hhNBC are encoded by splice variants of the same gene, SLC4A4, or called NBC1. kNBC is highly expressed in kidney and pancreas and has a lower level in brain. (Northern blotting) Burnham, C. E.; Amlal, H.; Wang, Z.; Shull, G. E.; Soleimani, M. Cloning and functional expression of a human kidney Na+:HCO3- cotransporter. J. Biol. Chem. 272: 19111-19114, 1997. pNBC is expressed predominantly in pancreas, with less expression in kidney and several other tissues. (Northern blotting) Abuladze, N.; Lee, I.; Newman, D.; Hwang, J.; Boorer, K.; Pushkin, A.; Kurtz, I. Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter. J. Biol. Chem. 273: 17689-17695, 1998. hhNBC is strongly expressed in pancreas and weakly expressed in heart and brain. (Northern blotting) Choi, I.; Romero, M. F.; Khandoudi, N.; Bril, A.; Boron, W. F. Cloning and characterization of a human electrogenic Na(+)-HCO(3-) cotransporter isoform (hhNBC). Am. J. Physiol. 276: C576-C584, 1999.
Tissues:kidney, pancreas; low level in brain and heart
Type:protein-coding
Sets:0
PharmGKB ID:PA35898
HPRD ID:04516
Substrates:Na+:HCO3-
Trivial Names:KNBC, NBC1, NBC2, pNBC, HNBC1, hhNMC, SLC4A5, NBCe1-A
Transcripts:NM_001098484.2 [Chr.4(+): 72053003-72437804 GRCh37]
NM_001134742.1 [Chr.4(+): 72053003-72437804 GRCh37]
NM_003759.3 [Chr.4(+): 72204770-72437804 GRCh37]
XM_005265705.1 [Chr.4(+): 72053023-72437804 GRCh37]
XM_005265703.1 [Chr.4(+): 72098970-72437804 GRCh37]
XM_005265704.1 [Chr.4(+): 72101785-72437804 GRCh37]
ENST00000264485 [Chr.4(+): 72053003-72435434 GRCh37]
ENST00000340595 [Chr.4(+): 72204770-72437804 GRCh37]
ENST00000351898 [Chr.4(+): 72053044-72434175 GRCh37]
ENST00000425175 [Chr.4(+): 72053003-72437804 GRCh37]
ENST00000512686 [Chr.4(+): 72204770-72339036 GRCh37]
ENST00000514331 [Chr.4(+): 72120935-72339024 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 SLC4A4.

Variant Data

View all PMT variants for SLC4A4 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.