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

Gene ID: 153201, updated on 3-Apr-2024

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; AllianceGenome:HGNC:18762
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
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Genomic context

Location:
5q33.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (151314972..151347559, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151853922..151886528, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150694533..150727120, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23455 Neighboring gene ganglioside GM2 activator Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23456 Neighboring gene solute carrier family 36 member 3 Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150726633-150727546 Neighboring gene uncharacterized LOC105378234 Neighboring gene solute carrier family 36 member 1 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

General gene information

Markers

Clone Names

  • FLJ16051, MGC119658, MGC119660

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-alanine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables L-proline transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
enables amino acid:proton symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables amino acid:proton symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables amino acid:proton symporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables glycine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables proline:proton symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in L-alanine transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in amino acid transport TAS
Traceable Author Statement
more info
 
involved_in glycine transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in monoatomic ion transport TAS
Traceable Author Statement
more info
 
involved_in proline transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in proline transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in proline transport IEA
Inferred from Electronic Annotation
more info
 
involved_in proton transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular exosome HDA PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in recycling endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in vacuolar membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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, Q495M4, Q495M6, Q6ZWK5, Q7Z6B5
    UniProtKB/TrEMBL
    E5RJJ5
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    151314972..151347559 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268377.5XP_005268434.1  proton-coupled amino acid transporter 2 isoform X1

    UniProtKB/TrEMBL
    E5RJJ5
    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
  2. XM_017009083.3XP_016864572.1  proton-coupled amino acid transporter 2 isoform X2

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    151853922..151886528 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351761.1XP_054207736.1  proton-coupled amino acid transporter 2 isoform X1

  2. XM_054351762.1XP_054207737.1  proton-coupled amino acid transporter 2 isoform X2