SLC22A18

Solute carrier family 22 member 18 is a protein that in humans is encoded by the SLC22A18 gene.[5][6][7]

SLC22A18
Identifiers
AliasesSLC22A18, BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5, p45-BWR1A, solute carrier family 22 member 18
External IDsOMIM: 602631 MGI: 1336884 HomoloGene: 1918 GeneCards: SLC22A18
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11p15.4Start2,899,721 bp[1]
End2,925,246 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

5002

18400

Ensembl

ENSG00000276130
ENSG00000110628

ENSMUSG00000000154

UniProt

Q96BI1

Q78KK3

RefSeq (mRNA)

NM_002555
NM_183233
NM_001315501
NM_001315502

NM_001042760
NM_008767

RefSeq (protein)

NP_001302430
NP_001302431
NP_002546
NP_899056

NP_001036225
NP_032793

Location (UCSC)Chr 11: 2.9 – 2.93 MbChr 7: 143.47 – 143.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region as well as the transport of chloroquine- and quinidine-related compounds in the kidney. Two alternative transcripts encoding the same isoform have been described.[7]

See also

References

  1. ENSG00000110628 GRCh38: Ensembl release 89: ENSG00000276130, ENSG00000110628 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000000154 - 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. Dao D, Frank D, Qian N, O'Keefe D, Vosatka RJ, Walsh CP, Tycko B (April 1998). "IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes". Human Molecular Genetics. 7 (4): 597–608. doi:10.1093/hmg/7.4.597. PMID 9499412.
  6. Schwienbacher C, Sabbioni S, Campi M, Veronese A, Bernardi G, Menegatti A, Hatada I, Mukai T, Ohashi H, Barbanti-Brodano G, Croce CM, Negrini M (March 1998). "Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples". Proceedings of the National Academy of Sciences of the United States of America. 95 (7): 3873–8. doi:10.1073/pnas.95.7.3873. PMC 19930. PMID 9520460.
  7. "Entrez Gene: SLC22A18 solute carrier family 22 (organic cation transporter), member 18".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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