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SLC36A2 solute carrier family 36 member 2 [ Homo sapiens (human) ]

Gene ID: 153201, updated on 3-May-2020

Summary

Official Symbol
SLC36A2provided by HGNC
Official Full Name
solute carrier family 36 member 2provided by HGNC
Primary source
HGNC:HGNC:18762
See related
Ensembl:ENSG00000186335 MIM:608331
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAT2; TRAMD1
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 are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]
Expression
Restricted expression toward kidney (RPKM 31.7) See more
Orthologs

Genomic context

See SLC36A2 in Genome Data Viewer
Location:
5q33.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (151314972..151347583, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150694539..150727151, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene GM2 ganglioside activator Neighboring gene solute carrier family 36 member 3 Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 5 Neighboring gene uncharacterized LOC105378234 Neighboring gene mediator complex subunit 13 pseudogene Neighboring gene RUN domain containing 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • FLJ16051, MGC119658, MGC119660

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-alanine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-proline transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
amino acid:proton symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
L-alanine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transport TAS
Traceable Author Statement
more info
 
glycine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transport TAS
Traceable Author Statement
more info
 
proline transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proline transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
proton transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
vacuolar membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
proton-coupled amino acid transporter 2
Names
solute carrier family 36 (proton/amino acid symporter), member 2
tramdorin-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027745.1 RefSeqGene

    Range
    5032..37619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_181776.3NP_861441.2  proton-coupled amino acid transporter 2

    See identical proteins and their annotated locations for NP_861441.2

    Status: REVIEWED

    Source sequence(s)
    AC008385, AY162214, BC101101, DC362112
    Consensus CDS
    CCDS4315.1
    UniProtKB/Swiss-Prot
    Q495M3
    Related
    ENSP00000334223.4, ENST00000335244.9
    Conserved Domains (1) summary
    cl00456
    Location:52463
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    151314972..151347583 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009084.1XP_016864573.1  proton-coupled amino acid transporter 2 isoform X4

    UniProtKB/Swiss-Prot
    Q495M3
    Conserved Domains (1) summary
    cl00456
    Location:1265
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  2. XM_006714756.4XP_006714819.1  proton-coupled amino acid transporter 2 isoform X1

    Conserved Domains (1) summary
    cl00456
    Location:52430
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. XM_005268377.4XP_005268434.1  proton-coupled amino acid transporter 2 isoform X2

    Related
    ENSP00000430535.1, ENST00000521967.1
    Conserved Domains (1) summary
    cl00456
    Location:52365
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  4. XM_017009083.2XP_016864572.1  proton-coupled amino acid transporter 2 isoform X3

    Conserved Domains (1) summary
    cl00456
    Location:52281
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
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