Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
153201
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 36 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC36A2
Synonyms (NCBI Gene) Gene synonyms aliases
PAT2, TRAMD1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003333 Process Amino acid transmembrane transport IBA 21873635
GO:0005280 Function Amino acid:proton symporter activity IBA 21873635
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane TAS
GO:0006811 Process Ion transport TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608331 18762 ENSG00000186335
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Nephronophthisis NEPHROLITHIASIS, CALCIUM OXALATE rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856
View all (190 more)
Unknown
Disease term Disease name Evidence References Source
Hyperglycinuria HYPERGLYCINURIA (disorder) 19033659 ClinVar
Iminoglycinuria iminoglycinuria GenCC
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
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