Gene Gene information from NCBI Gene database.
Entrez ID 54716
Gene name Solute carrier family 6 member 20
Gene symbol SLC6A20
Synonyms (NCBI Gene)
IMINOSIT1XT3Xtrp3
Chromosome 3
Chromosome location 3p21.31
Summary 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 belongs to the sodium:neurotransmitt
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs17279437 G>A Pathogenic, benign-likely-benign Intron variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
187
miRTarBase ID miRNA Experiments Reference
MIRT653449 hsa-miR-1228-3p HITS-CLIP 23824327
MIRT653448 hsa-miR-6072 HITS-CLIP 23824327
MIRT653447 hsa-miR-6891-3p HITS-CLIP 23824327
MIRT653446 hsa-miR-8064 HITS-CLIP 23824327
MIRT653445 hsa-miR-7702 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0005298 Function Proline:sodium symporter activity IBA
GO:0005298 Function Proline:sodium symporter activity IDA 33428810
GO:0005298 Function Proline:sodium symporter activity ISS 15632147
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605616 30927 ENSG00000163817
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NP91
Protein name Sodium- and chloride-dependent transporter XTRP3 (Sodium/imino-acid transporter 1) (Solute carrier family 6 member 20) (Transporter rB21A homolog)
Protein function Mediates the Na(+)- and Cl(-)-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids (PubMed:15632147, PubMed:19033659, PubMed:33428810). Also transports glycine, regulates prolin
PDB 7Y75 , 7Y76 , 8I91 , 8P2W , 8P2X , 8P2Y , 8P2Z , 8P30 , 8P31 , 8WM3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00209 SNF 5 581 Sodium:neurotransmitter symporter family Family
Tissue specificity TISSUE SPECIFICITY: Kidney and small intestine. Expressed in the S3 segment of the proximal tubule. Expressed in neurons (PubMed:33428810). {ECO:0000269|PubMed:19033659, ECO:0000269|PubMed:33428810, ECO:0000269|PubMed:9932288}.
Sequence
Sequence length 592
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amino acid transport across the plasma membrane
Na+/Cl- dependent neurotransmitter transporters
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hereditary ataxia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 24647473
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30535121 Associate
★☆☆☆☆
Found in Text Mining only
Berylliosis Berylliosis Pubtator 35972918 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33164640 Associate
★☆☆☆☆
Found in Text Mining only
Cholestasis Cholestasis BEFREE 28369585
★☆☆☆☆
Found in Text Mining only
Chronic rhinosinusitis with nasal polyps Rhinosinusitis With Nasal Polyps BEFREE 30058179
★☆☆☆☆
Found in Text Mining only
Dementia Dementia BEFREE 31676234
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 30535121, 34969185 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 24958070, 27942799
★☆☆☆☆
Found in Text Mining only
Familial lichen amyloidosis Lichen amyloidosis BEFREE 31822761
★☆☆☆☆
Found in Text Mining only