Gene Gene information from NCBI Gene database.
Entrez ID 153201
Gene name Solute carrier family 36 member 2
Gene symbol SLC36A2
Synonyms (NCBI Gene)
PAT2TRAMD1
Chromosome 5
Chromosome location 5q33.1
Summary This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs77010315 C>A Uncertain-significance, pathogenic, benign Coding sequence variant, missense variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
343
miRTarBase ID miRNA Experiments Reference
MIRT694168 hsa-miR-606 HITS-CLIP 23313552
MIRT694167 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT694166 hsa-miR-6893-5p HITS-CLIP 23313552
MIRT694165 hsa-miR-940 HITS-CLIP 23313552
MIRT694164 hsa-miR-3929 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0005280 Function Amino acid:proton symporter activity IBA
GO:0005280 Function Amino acid:proton symporter activity IDA 12809675, 19033659
GO:0005280 Function Amino acid:proton symporter activity IEA
GO:0005280 Function Amino acid:proton symporter activity ISS
GO:0005297 Function Proline:proton symporter activity IDA 12809675, 19033659
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608331 18762 ENSG00000186335
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q495M3
Protein name Proton-coupled amino acid transporter 2 (Proton/amino acid transporter 2) (Solute carrier family 36 member 2) (Transmembrane domain rich protein 1) (Tramdorin-1)
Protein function Electrogenic proton/amino acid symporter with a high selectivity for the small side chains amino acids glycine, alanine and proline, where both L- and D-enantiomers are transported. Extension of the backbone length, as in beta-alanine and 4-amin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01490 Aa_trans 52 463 Transmembrane amino acid transporter protein Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in kidney and muscle. Expressed in the S1 segment of the proximal tubule close to the glomerulus. {ECO:0000269|PubMed:15058382, ECO:0000269|PubMed:19033659}.
Sequence
Sequence length 483
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein digestion and absorption   Amino acid transport across the plasma membrane
Proton-coupled neutral amino acid transporters
Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
59
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hyperglycinuria Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign rs369907, rs431240, rs192192, rs77010315, rs371203963, rs559821596, rs766388628, rs149847490, rs35403441, rs34910192, rs138947074, rs79265984, rs190486100, rs144651323, rs74403861
View all (2 more)
RCV001810092
RCV001810187
RCV001810185
RCV000002484
RCV000002485
RCV005399016
RCV000723310
RCV002502930
RCV002488037
RCV002489415
RCV002505329
RCV002495453
RCV002495462
RCV002502744
RCV002495510
RCV002502740
RCV002502866
Iminoglycinuria Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign rs77010315, rs371203963, rs559821596, rs149847490, rs35403441, rs34910192, rs138947074, rs79265984, rs190486100, rs144651323, rs74403861, rs780286885, rs200123093 RCV003159070
RCV000002486
RCV005399016
RCV002502930
RCV002488037
RCV002489415
RCV002505329
RCV002495453
RCV002495462
RCV002502744
RCV002495510
RCV002502740
RCV002502866
Ovarian serous cystadenocarcinoma Benign rs36053782 RCV005917171
SLC36A2-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs10042608, rs35215996, rs77739145, rs111393736, rs559821596, rs748266105, rs776428086, rs142783014, rs140682366, rs140044970, rs79265984, rs139985763 RCV003968444
RCV003968499
RCV003976069
RCV003926700
RCV003936392
RCV003414415
RCV003924460
RCV003903219
RCV003918442
RCV003968088
RCV003910757
RCV003953366
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
2 Methylbutyryl CoA Dehydrogenase Deficiency Associate 35236679
Cerebral Infarction Associate 26352407
Iminoglycinuria Associate 19033659
Neoplasm Metastasis Associate 35936004
Neoplasms Associate 35936004