| Full gene name: | solute carrier family 22, member 18 |
|---|---|
| Entrez Gene ID: | 5002 |
| Location: | 11p15.5 |
| Synonyms: | HET, ITM, p45-BWR1A, BWSCR1A, ORCTL2, IMPT1, BWR1A, SLC22A1L, TSSC5 |
| Type: | protein-coding |
SNPs given by the user that are near or inside this gene:
| SNP | Distance (bp) | Direction |
|---|---|---|
| rs2237892 | 81200 | upstream |
| rs231362 | 229480 | upstream |
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]
| OMIM ID: | `OMIM ID 602631 `_ |
|---|
Allelic Variants (Selected Examples)
.0001 BREAST CANCER, SOMATIC
In the breast cancer (114480) cell line BT549, Schwienbacher et al. (1998) identified an insertion that introduced a stop codon in the BWR1A gene. The insertion consisted of 111 nucleotides between nucleotides 1295 and 1296 of the cDNA sequence. These nucleotides represented the junction between exon 8 and exon 9 of the BWR1A gene. Therefore, this inserted segment behaved like a new exon. Indeed, the newly added 111-nucleotide segment was found within intron 8, at 331 nucleotides from the 3-prime end of exon 8. The presence of the canonical splicing sites at the boundaries of the genomic sequence confirmed that the segment had been inserted in the normal BWR1A transcript by an mRNA splicing event. Though it did not introduce a frameshift, it did introduce an in-frame stop codon after 18 nucleotides, removing the last 136 amino acids at the normal polypeptide sequence. This result indicated that the mRNA was aberrant and not a product of alternative splicing.
.0002 RHABDOMYOSARCOMA, SOMATIC
In the rhabdomyosarcoma (268210) cell line TE125.5, Schwienbacher et al. (1998) found a G-to-A transition at nucleotide 688 that introduced an arginine in place of a cysteine in the product of the BWR1A gene. The change was present in a homozygous state, suggesting that loss of the normal allele occurred during the tumorigenic conversion.
.0003 LUNG CANCER, SOMATIC
In a lung cancer (211980), Lee et al. (1998) identified an apparent somatic mutation, a C-to-T transition at nucleotide 892 of the SLC22A1L gene, resulting in a ser233-to-phe substitution. They also found loss of heterozygosity in the lung cancer, suggesting that SLC22A1L may be a conventional tumor suppressor gene in the adult human lung and an imprinted tumor suppressor gene in the fetal kidney.
No pathways found linked to this gene.
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