SLC6A20

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

SLC6A20
Identifiers
Aliases	SLC6A20, SIT1, XT3, Xtrp3, solute carrier family 6 member 20, IMINO
External IDs	OMIM: 605616; MGI: 2143217; HomoloGene: 10625; GeneCards: SLC6A20; OMA:SLC6A20 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p21.31 Start 45,755,449 bp[1] End 45,796,536 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 F4|9 74.26 cM Start 123,463,835 bp[2] End 123,507,950 bp[2]
RNA expression pattern Bgee Human Mouse (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 neurotransmitter:sodium symporter activity protein binding symporter activity amino acid transmembrane transporter activity L-proline transmembrane transporter activity Cellular component integral component of membrane plasma membrane integral component of plasma membrane apical plasma membrane membrane brush border membrane Biological process neurotransmitter transport amino acid transport glycine transport proline transport amino acid transmembrane transport transmembrane transport proline transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 9: 123.46 – 123.51 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]