SLCtables

SLC22A18

Protein name: N/D Aliases: IMPT1, TSSC5, ORCTL2 Substrates: probably organic anions Transport type: N/D Tissue and cellular expression: kidney Subcellular expression: apical membrane of proximal tubules (kidney) Disease: N/D Locus: 11p15.5 Sequence ID: NP_002546.3, NM_002555.5 NP_899056.2, NM_183233.2 Gene ID: 5002 Splice variants: 2 splice variants

S22AI_HUMAN (UniProt)

Gene names: SLC22A18, BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5
Protein names and data: S22AI_HUMAN, Full=Solute carrier family 22 member 18, Full=Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein;Full=Efflux transporter-like protein;Full=Imprinted multi-membrane-spanning polyspecific transporter-related protein 1;Full=Organic cation transporter-like protein 2;Short=ORCTL-2;Full=Solute carrier family 22 member 1-like;Full=Tumor-suppressing STF cDNA 5 protein;Full=Tumor-suppressing subchromosomal transferable fragment candidate gene 5 protein;Full=p45-Beckwith-Wiedemann region 1 A;Short=p45-BWR1A; Length: 424 a.a., Mass: 44846 Da,
fasta formatted sequence
Function: May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney
Disease: (OMIM: 114480 211980 268210 602631) Defects in SLC22A18 are associated with lung cancer (LNCR) [MIM:211980]. LNCR is a common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis; Defects in SLC22A18 are a cause of rhabdomyosarcoma type 1 (RMS1) [MIM:268210]. It is a form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchimal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas
Cellular location: Apical cell membrane; Multi-pass membrane protein (Potential). Note=Localized at the apical membrane surface of renal proximal tubules
Tissue specificity: Expressed at high levels in adult and fetal kidney and liver, and adult colon. Expressed in fetal renal proximal tubules (at protein level). Expressed at lower levels in heart, brain and lung

Database cross-references

UniProt: Q96BI1
NextBio: 19262
OMIM: 114480 211980 268210 602631
Ensembl: ENST00000380574
GeneCard: GC11P002920
PharmGenUCSF: SLC22A18
Guide to Pharmacology: SLC22A18 (1036)
Orphan or poorly characterized SLC22 family members (1036)
HGNC: HGNC:10964

Genetic variants

See also Ensembl:ENST00000380574

6 - 6 A -> T (in dbSNP:rs1048046). VAR_055406 1048046
12 - 12 R -> Q (in dbSNP:rs1048047). VAR_055407 1048047
86 - 86 R -> C (in a rhabdomyosarcoma sample). VAR_024061
233 - 233 S -> F (in lung cancer; somatic mutation). VAR_024062
309 - 309 R -> Q. VAR_024063
324 - 324 W -> C (in dbSNP:rs1129782). VAR_055408 1129782