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Electrogenic sodium bicarbonate cotransporter 4

From Wikipedia, the free encyclopedia
(Redirected fromSLC4A5)
Protein-coding gene in the species Homo sapiens
SLC4A5
Identifiers
AliasesSLC4A5, NBC4, NBCe2, solute carrier family 4 member 5
External IDsOMIM:606757;MGI:2443220;HomoloGene:31125;GeneCards:SLC4A5;OMA:SLC4A5 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for SLC4A5
Genomic location for SLC4A5
Band2p13.1Start74,216,242bp[1]
End74,343,416bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for SLC4A5
Genomic location for SLC4A5
Band6|6 C3Start83,196,810bp[2]
End83,281,927bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sural nerve

  • thyroid gland

  • right lobe of thyroid gland

  • left lobe of thyroid gland

  • right testis

  • left testis

  • testicle

  • corpus callosum

  • cerebellar hemisphere

  • right hemisphere of cerebellum
Top expressed in
  • choroid plexus of fourth ventricle

  • retinal pigment epithelium

  • Epithelium of choroid plexus

  • ciliary body

  • iris

  • zygote

  • secondary oocyte

  • neural layer of retina

  • right lung

  • right lung lobe
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

57835

232156

Ensembl

ENSG00000188687

ENSMUSG00000068323

UniProt

Q9BY07

n/a

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 aprotein that in humans is encoded by theSLC4A5gene.[5][6][7]

Function

[edit]

This gene encodes a member of the sodium bicarbonatecotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved inintracellular 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

[edit]

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

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000188687 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000068323 –Ensembl, 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. ^ab"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

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

By group
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SLC11–20
(11):
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SLC21–30
(21):
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SLC31–40
(31):
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SLC41–48
(41):
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(48):
SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)


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