SLC6A20
Identifiers
AliasesSLC6A20, SIT1, XT3, Xtrp3, solute carrier family 6 member 20, IMINO
External IDsOMIM: 605616 MGI: 2143217 HomoloGene: 10625 GeneCards: SLC6A20
Orthologs
SpeciesHumanMouse
Entrez

54716

102680

Ensembl

ENSG00000163817

ENSMUSG00000036814

UniProt

Q9NP91

Q8VDB9

RefSeq (mRNA)

NM_020208
NM_022405
NM_001385683

NM_139142

RefSeq (protein)

NP_064593
NP_071800

NP_631881

Location (UCSC)Chr 3: 45.76 – 45.8 MbChr 9: 123.46 – 123.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Solute carrier family 6, member 20 also known as SLC6A20 is a protein which in humans is encoded by the SLC6A20 gene.[5][6]

Function

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl− coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants.[7]

Clinical significance

Mutation in the SLC6A20 gene are associated with iminoglycinuria.[8]

One of a cluster of 6 genes (SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6 and XCR1) on chromosome 3 at location 3p21.31 associated with a genetic susceptibility to COVID-19 respiratory failure.[9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163817 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036814 - 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. ^ Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, et al. (1998). "Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms". Receptors & Channels. 6 (2): 113–28. PMID 9932288.
  6. ^ Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, et al. (April 2001). "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3". Genomics. 73 (1): 10–9. doi:10.1006/geno.2000.6498. PMID 11352561.
  7. ^ "Entrez Gene: ADCY10".
  8. ^ Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, et al. (December 2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters". The Journal of Clinical Investigation. 118 (12): 3881–92. doi:10.1172/JCI36625. PMC 2579706. PMID 19033659.
  9. ^ Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, et al. (June 2020). "Genomewide Association Study of Severe Covid-19 with Respiratory Failure". The New England Journal of Medicine. 383 (16): 1522–1534. doi:10.1056/NEJMoa2020283. PMC 7315890. PMID 32558485.

Further reading

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