SLC6A20 (solute carrier family 6 member 20)

2014-11-01  

Identity

HGNC
SLC6A20
LOCATION
3p21.31
LOCUSID
54716
ALIAS
IMINO,SIT1,XT3,Xtrp3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54716
MIM: 605616
HGNC: 30927
Ensembl: ENSG00000163817

Variants:

dbSNP: 54716
ClinVar: 54716
TCGA: ENSG00000163817
COSMIC: SLC6A20

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163817ENST00000353278Q9NP91
ENSG00000163817ENST00000358525Q9NP91
ENSG00000163817ENST00000413781C9JIN6
ENSG00000163817ENST00000456124B7ZLW4

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Amino acid transport across the plasma membraneREACTOMER-HSA-352230
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Na+/Cl- dependent neurotransmitter transportersREACTOMER-HSA-442660

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
336192452021Genome and epigenome editing identify CCR9 and SLC6A20 as target genes at the 3p21.31 locus associated with severe COVID-19.28
344258592021Integrative approach identifies SLC6A20 and CXCR6 as putative causal genes for the COVID-19 GWAS signal in the 3p21.31 locus.32
349691852021SIT1 transporter as a potential novel target in treatment of COVID-19.4
336192452021Genome and epigenome editing identify CCR9 and SLC6A20 as target genes at the 3p21.31 locus associated with severe COVID-19.28
344258592021Integrative approach identifies SLC6A20 and CXCR6 as putative causal genes for the COVID-19 GWAS signal in the 3p21.31 locus.32
349691852021SIT1 transporter as a potential novel target in treatment of COVID-19.4
313586882019Associations of SLC6A20 genetic polymorphisms with Hirschsprung's disease in a Southern Chinese population.7
313586882019Associations of SLC6A20 genetic polymorphisms with Hirschsprung's disease in a Southern Chinese population.7
301609742018Intestinal IMINO transporter SIT1 is not expressed in human newborns.7
301609742018Intestinal IMINO transporter SIT1 is not expressed in human newborns.7
260497832016Association Analysis of SLC6A20 Polymorphisms With Hirschsprung Disease.4
260497832016Association Analysis of SLC6A20 Polymorphisms With Hirschsprung Disease.4
255344292015Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors.196
255344292015Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors.196
249580702014A genetic variant in SLC6A20 is associated with Type 2 diabetes in white-European and Chinese populations.5

Citation

Dessen P

SLC6A20 (solute carrier family 6 member 20)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73476/meetings/gene-explorer/haematological-explorer/