Version 2.78

Description

The SLC22A18 gene (solute carrier family 22, member 18) [HGNC Gene ID:10964] is located on chromosome 11p15.5. 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 is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Two alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Oct 2010] [NCBI Gene ID:5002] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
SLC22A18 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-08-08
Construct for LOINC Short Name
SLC22A18 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP31861-5
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP31861-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SLC22A18 基因
Synonyms: Beckwith-Wiedemann 综合征 染色体区域 1, 候选 a;BWR1A;BWSCR1A;IMPT1;ITM;ORCTL2;SLC22A1L;TSSC5;印记性多特异性膜转运蛋白 1;印记性非特异性膜转运蛋白 1;巨大舌-脐膨出综合征 染色体区域 1, 候选 a;有机阳离子转运蛋白样蛋白 2;溶质转运蛋白家族 22 (有机阳离子转运蛋白), 成员 1 样;溶质转运蛋白家族 22 (有机阳离子转运蛋白), 成员 18;溶质通道家族 22 (有机阳离子转运蛋白), 成员 1 样;溶质通道家族 22
et-EE Estonian (Estonia) SLC22A18 geen
es-ES Spanish (Spain) Gen SLC22A18
it-IT Italian (Italy) SLC22A18, gene
Synonyms: Gene SLC22A18
tr-TR Turkish (Turkey) SLC22A18 geni
ru-RU Russian (Russian Federation) SLC22A18 ген
nl-NL Dutch (Netherlands) SLC22A18-gen
Synonyms: SLC22A18 gen