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Electrogenic sodium bicarbonate cotransporter 4

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(Redirected from SLC4A5 (gene))
SLC4A5
Identifiers
AliasesSLC4A5, NBC4, NBCe2, solute carrier family 4 member 5
External IDsOMIM: 606757; MGI: 2443220; HomoloGene: 31125; GeneCards: SLC4A5; OMA:SLC4A5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_133479
NM_021196
NM_033323
NM_133478
NM_001386136

NM_001166067

RefSeq (protein)

NP_067019
NP_597812

n/a

Location (UCSC)Chr 2: 74.22 – 74.34 MbChr 6: 83.2 – 83.28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Electrogenic sodium bicarbonate cotransporter 4 is a protein that in humans is encoded by the SLC4A5 gene.[5][6][7]

Function

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This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined.[7]

Clinical significance

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This human gene has been identified as a hypertension susceptibility gene based on the association of single nucleotide polymorphisms with blood pressure (BP) levels and hypertension status.[8]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000188687Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000068323Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I (Nov 2000). "Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family". Biochim Biophys Acta. 1493 (1–2): 215–8. doi:10.1016/S0167-4781(00)00149-4. PMID 10978526.
  6. ^ Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I (Mar 2001). "Two C-terminal variants of NBC4, a new member of the sodium bicarbonate cotransporter family: cloning, characterization, and localization". IUBMB Life. 50 (1): 13–9. doi:10.1080/15216540050176539. PMID 11087115. S2CID 43332428.
  7. ^ a b "Entrez Gene: SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5".
  8. ^ Gröger N, Vitzthum H, Fröhlich H, Krüger M, Ehmke H, Braun T, Boettger T (March 2012). "Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis". Hum. Mol. Genet. 21 (5): 1025–36. doi:10.1093/hmg/ddr533. PMID 22082831.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.