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SLC6A20

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
SLC6A20
Identifiers
AliasesSLC6A20, SIT1, XT3, Xtrp3, solute carrier family 6 member 20, IMINO
External IDsOMIM:605616;MGI:2143217;HomoloGene:10625;GeneCards:SLC6A20;OMA:SLC6A20 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for SLC6A20
Genomic location for SLC6A20
Band3p21.31Start45,755,449bp[1]
End45,796,536bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for SLC6A20
Genomic location for SLC6A20
Band9 F4|9 74.26 cMStart123,463,835bp[2]
End123,507,950bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • retinal pigment epithelium

  • Epithelium of choroid plexus

  • duodenum

  • jejunal mucosa

  • gallbladder

  • mucosa of ileum

  • gonad

  • palpebral conjunctiva

  • pancreatic epithelial cell

  • tibial nerve
Top expressed in
  • retinal pigment epithelium

  • optic nerve

  • Epithelium of choroid plexus

  • epithelium of small intestine

  • duodenum

  • jejunum

  • median eminence

  • intestinal villus

  • mammillary body

  • ileum
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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 asSLC6A20 is aprotein which in humans is encoded by theSLC6A20gene.[5][6]

Function

[edit]

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specifictransporter 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

[edit]

Mutation in the SLC6A20 gene are associated withiminoglycinuria.[8]

One of a cluster of 6 genes(SLC6A20,LZTFL1,CCR9,FYCO1,CXCR6 andXCR1) on chromosome 3 at location 3p21.31 associated with a genetic susceptibility to COVID-19 respiratory failure.[9]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000163817 –Ensembl, May 2017
  2. ^abcGRCm38: 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

[edit]
By group
SLC1–10
(1):
(2):
(3):
(4):
(5):
(6):
(7):
(8):
(9):
(10):
SLC11–20
(11):
(12):
(13):
(14):
(15):
(16):
(17):
(18):
(19):
(20):
SLC21–30
(21):
(22):
(23):
(24):
(25):
(26):
(27):
(28):
(29):
(30):
SLC31–40
(31):
(32):
(33):
(34):
(35):
(36):
(37):
(38):
(39):
(40):
SLC41–48
(41):
(42):
(43):
(44):
(45):
(46):
(47):
(48):
SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)
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