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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
205
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Uncertain significance rs146575685 RCV005909288
Hereditary ataxia Uncertain significance rs776376221 RCV005626767
Hyperglycinuria Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs1553659698, rs149885788, rs2252547, rs17279437, rs776376221, rs569114783, rs886058526, rs2742388, rs17078308, rs763196010, rs539802611, rs570836605, rs531832972, rs368608688, rs774194927
View all (148 more)
RCV002499721
RCV002499715
RCV001810128
RCV000005117
RCV005399225
RCV000363784
RCV000271440
RCV000310229
RCV000261109
RCV000343771
RCV000400818
RCV000389512
RCV000288153
RCV000345501
RCV000334427
RCV000299229
RCV000356357
RCV000328961
RCV000376493
RCV000401642
RCV000260204
RCV000321340
RCV000290946
RCV000311879
RCV000401512
RCV000298927
RCV000267632
RCV000328467
RCV000294777
RCV000408279
RCV000306799
RCV000266892
RCV000372064
RCV000318695
RCV000387853
RCV000295815
RCV000308566
RCV000347199
RCV000303722
RCV000297740
RCV000355180
RCV000383767
RCV000291901
RCV000397058
RCV000305339
RCV000402380
RCV000393116
RCV000369565
RCV000277252
RCV000323190
RCV000278713
RCV000283113
RCV000313461
RCV000399219
RCV000304161
RCV000325307
RCV000375678
RCV000292451
RCV000401573
RCV000360897
RCV000268360
RCV000320064
RCV000339820
RCV000312192
RCV000325237
RCV000363544
RCV000284423
RCV000380125
RCV000400840
RCV000307665
RCV000362363
RCV000367975
RCV000355322
RCV000379245
RCV000284832
RCV000385237
RCV000338720
RCV000353127
RCV000358916
RCV000263937
RCV000383051
RCV000269995
RCV000359315
RCV000324472
RCV000349689
RCV000262736
RCV000386374
RCV000275132
RCV000332534
RCV000271512
RCV000336151
RCV000395050
RCV000347414
RCV000273388
RCV000319156
RCV000324758
RCV000393169
RCV000296311
RCV000351236
RCV000389165
RCV002493422
RCV002501015
RCV001150250
RCV001144121
RCV001144122
RCV001146004
RCV001146005
RCV001146006
RCV001146007
RCV001146008
RCV001146009
RCV001146010
RCV001148790
RCV001148791
RCV001148792
RCV001254017
RCV001150318
RCV001150319
RCV001144229
RCV001144230
RCV001144231
RCV001144232
RCV001144233
RCV001144234
RCV001146120
RCV001146121
RCV001146122
RCV001148924
RCV001148925
RCV001150444
RCV001150445
RCV001150446
RCV001150447
RCV001144348
RCV001144349
RCV001144350
RCV001146251
RCV001146252
RCV001149040
RCV001149041
RCV001149042
RCV001149043
RCV001150549
RCV001150550
RCV001150551
RCV001150552
RCV001144464
RCV001144465
RCV001146378
RCV001146381
RCV001149164
RCV001149165
RCV001150675
RCV001150676
RCV001144580
RCV001144581
RCV001144582
RCV001144583
RCV001146508
RCV001146509
RCV001146510
RCV001147629
RCV001146379
RCV001146380
Iminoglycinuria Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs1553659698, rs149885788, rs371002443, rs777914805, rs376448611, rs779053318, rs565896481, rs147777980, rs781203780, rs1275324148, rs531515127, rs146474113, rs141811843, rs149505473, rs375971612
View all (4 more)
RCV002499721
RCV002499715
RCV002488747
RCV002487518
RCV002504153
RCV002487515
RCV002487517
RCV002502323
RCV002487516
RCV002493422
RCV002501015
RCV002497568
RCV002483886
RCV002480537
RCV002505726
RCV002480548
RCV002505727
RCV002482282
RCV002505723
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
2 Methylbutyryl CoA Dehydrogenase Deficiency Associate 35236679
Alzheimer Disease Associate 30535121
COVID 19 Associate 32899439, 33164753, 33604698, 34425859, 34969185, 35212764, 35261286, 36292769, 37085563, 37160831, 39344392
Diabetes Mellitus Type 2 Associate 30535121, 34969185
Hereditary Breast and Ovarian Cancer Syndrome Associate 30535121
Hirschsprung Disease Associate 25310821, 31358688
Iminoglycinuria Associate 19033659
Mesothelioma Malignant Associate 17659810
Myopia Associate 30535121
Neoplasms Associate 30535121