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Sodium-dependent phosphate transport protein 2C

From Wikipedia, the free encyclopedia
(Redirected fromSLC34A3)
Protein-coding gene in the species Homo sapiens
SLC34A3
Identifiers
AliasesSLC34A3, HHRH, NPTIIc, solute carrier family 34 member 3, NaP2b
External IDsOMIM:609826;MGI:2159410;HomoloGene:15444;GeneCards:SLC34A3;OMA:SLC34A3 - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for SLC34A3
Genomic location for SLC34A3
Band9q34.3Start137,230,757bp[1]
End137,236,555bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for SLC34A3
Genomic location for SLC34A3
Band2|2 A3Start25,118,910bp[2]
End25,124,376bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right uterine tube

  • sural nerve

  • pituitary gland

  • anterior pituitary

  • endothelial cell

  • human kidney

  • skin of hip

  • olfactory zone of nasal mucosa

  • gastric mucosa

  • right frontal lobe
Top expressed in
  • right kidney

  • human kidney

  • embryo

  • lumbar subsegment of spinal cord

  • yolk sac

  • epithelium of small intestine

  • embryo

  • ileum

  • otic vesicle

  • stria vascularis
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

142680

142681

Ensembl

ENSG00000198569

ENSMUSG00000006469

UniProt

Q8N130

Q80SU6

RefSeq (mRNA)

NM_001177316
NM_001177317
NM_080877

NM_080854
NM_001362748

RefSeq (protein)

NP_001170787
NP_001170788
NP_543153

NP_543130
NP_001349677

Location (UCSC)Chr 9: 137.23 – 137.24 MbChr 2: 25.12 – 25.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium-dependent phosphate transport protein 2C is aprotein that in humans is encoded by theSLC34A3gene.[5][6][7][8]

Function

[edit]

SLC34A3 contributes to the maintenance ofinorganic phosphate concentration at thekidney.[8]

Interactions

[edit]

SLC34A3 has been shown tointeract withPDZK1.[9]

Clinical Correlation

[edit]

A mutation in the SLC34A3 gene has been known to cause theautosomal recessive condition hereditaryhypophosphatemic rickets withhypercalciuria. This gene is correlated closely withSLC34A1, an analogue sodium phosphate cotransporter protein. Symptoms include renal phosphate wasting in addition to increase levels of1,25-dihydroxyvitamin D (yields the hypercalcuria).[6]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000198569Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000006469Ensembl, 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. ^Segawa H, Kaneko I, Takahashi A, Kuwahata M, Ito M, Ohkido I, Tatsumi S, Miyamoto K (May 2002)."Growth-related renal type II Na/Pi cotransporter".The Journal of Biological Chemistry.277 (22):19665–72.doi:10.1074/jbc.M200943200.PMID 11880379.
  6. ^abLorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM (February 2006)."Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3".American Journal of Human Genetics.78 (2):193–201.doi:10.1086/499410.PMC 1380229.PMID 16358215.
  7. ^Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (February 2006)."SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis".American Journal of Human Genetics.78 (2):179–92.doi:10.1086/499409.PMC 1380228.PMID 16358214.
  8. ^ab"Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3".
  9. ^Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (November 2003)."PDZK1: I. a major scaffolder in brush borders of proximal tubular cells".Kidney International.64 (5):1733–45.doi:10.1046/j.1523-1755.2003.00266.x.PMID 14531806.

Further reading

[edit]

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

By group
SLC1–10
(1):
(2):
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SLC11–20
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SLC21–30
(21):
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SLC31–40
(31):
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SLC41–48
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SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)


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