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Proton-coupled amino acid transporter 2

From Wikipedia, the free encyclopedia
(Redirected fromSLC36A2)
Protein-coding gene in the species Homo sapiens
SLC36A2
Identifiers
AliasesSLC36A2, PAT2, TRAMD1, solute carrier family 36 member 2
External IDsOMIM:608331;MGI:1891430;HomoloGene:72100;GeneCards:SLC36A2;OMA:SLC36A2 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for SLC36A2
Genomic location for SLC36A2
Band5q33.1Start151,314,972bp[1]
End151,347,590bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for SLC36A2
Genomic location for SLC36A2
Band11|11 B1.3Start55,049,296bp[2]
End55,075,903bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • quadriceps femoris muscle

  • skeletal muscle tissue

  • gastrocnemius muscle

  • muscle of thigh

  • human kidney

  • tibial nerve

  • testicle

  • sural nerve

  • gonad

  • renal cortex
Top expressed in
  • brown adipose tissue

  • sciatic nerve

  • body of femur

  • subcutaneous adipose tissue

  • mammary gland

  • intercostal muscle

  • white adipose tissue

  • humerus

  • aorta

  • otolith organ
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

153201

246049

Ensembl

ENSG00000186335

ENSMUSG00000020264

UniProt

Q495M3

Q8BHK3

RefSeq (mRNA)

NM_181776

NM_153170

RefSeq (protein)

NP_861441

NP_694810

Location (UCSC)Chr 5: 151.31 – 151.35 MbChr 11: 55.05 – 55.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Proton-coupled amino acid transporter 2 is aprotein which in humans is encoded by theSLC36A2gene.[5]

Function

[edit]

SLC36A2 transports smallamino acids (glycine,alanine, andproline) and also the D-enantiomers and select amino acid derivatives, such asgamma-aminobutyric acid.[5][6]

Clinical significance

[edit]

Mutations in the SLC36A2 gene are associated withIminoglycinuria.[7]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000186335 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000020264 –Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^abBoll M, Foltz M, Rubio-Aliaga I, Daniel H (July 2003). "A cluster of proton/amino acid transporter genes in the human and mouse genomes".Genomics.82 (1):47–56.doi:10.1016/S0888-7543(03)00099-5.PMID 12809675.
  6. ^Boll M, Foltz M, Rubio-Aliaga I, Kottra G, Daniel H (June 2002)."Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters".J. Biol. Chem.277 (25):22966–73.doi:10.1074/jbc.M200374200.PMID 11959859.
  7. ^Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE (December 2008)."Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters".J. Clin. Invest.118 (12):3881–92.doi:10.1172/JCI36625.PMC 2579706.PMID 19033659.

Further reading

[edit]
By group
SLC1–10
(1):
(2):
(3):
(4):
(5):
(6):
(7):
(8):
(9):
(10):
SLC11–20
(11):
(12):
(13):
(14):
(15):
(16):
(17):
(18):
(19):
(20):
SLC21–30
(21):
(22):
(23):
(24):
(25):
(26):
(27):
(28):
(29):
(30):
SLC31–40
(31):
(32):
(33):
(34):
(35):
(36):
(37):
(38):
(39):
(40):
SLC41–48
(41):
(42):
(43):
(44):
(45):
(46):
(47):
(48):
SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)


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