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SLC22A18

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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;OMA:SLC22A18 - orthologs
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for SLC22A18
Genomic location for SLC22A18
Band11p15.4Start2,899,721bp[1]
End2,925,246bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for SLC22A18
Genomic location for SLC22A18
Band7 F5|7 88.22 cMStart143,027,473bp[2]
End143,053,071bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of transverse colon

  • duodenum

  • right lobe of liver

  • human kidney

  • right auricle of heart

  • blood

  • left testis

  • right testis

  • stromal cell of endometrium

  • granulocyte
Top expressed in
  • right kidney

  • human kidney

  • lumbar spinal ganglion

  • left lobe of liver

  • proximal tubule

  • duodenum

  • gastric mucosa

  • mucous cell of stomach

  • epithelium of stomach

  • pyloric antrum
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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: 143.03 – 143.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Solute carrier family 22 member 18 is aprotein that in humans is encoded by theSLC22A18gene.[5][6][7]

Function

[edit]

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

[edit]

References

[edit]
  1. ^abcENSG00000110628 GRCh38: Ensembl release 89: ENSG00000276130, ENSG00000110628Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000000154Ensembl, 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.Bibcode:1998PNAS...95.3873S.doi:10.1073/pnas.95.7.3873.PMC 19930.PMID 9520460.
  7. ^ab"Entrez Gene: SLC22A18 solute carrier family 22 (organic cation transporter), member 18".

Further reading

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

By group
SLC1–10
(1):
(2):
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SLC11–20
(11):
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SLC21–30
(21):
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SLC31–40
(31):
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SLC41–48
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SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)
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