SLC22A18 - solute carrier family 22 member 18 Gene

Also Known as HET; ITM; BWR1A; IMPT1; TSSC5; ORCTL2; BWSCR1A; SLC22A1L; p45-BWR1A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5002

About SLC22A18

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:2,899,691-2,925,246 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 194 orthologues and is associated with 5 phenotypes. Broad expression in duodenum (RPKM 18.6), small intestine (RPKM 17.1) and 21 other tissues.

Summary

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. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015]

SLC22A18 Products (4)

mRNA Protein Name
NM_001315501.2 NP_001302430.1 solute carrier family 22 member 18 isoform a
NM_001315502.2 NP_001302431.1 solute carrier family 22 member 18 isoform c
NM_002555.6 NP_002546.3 solute carrier family 22 member 18 isoform b
NM_183233.3 NP_899056.2 solute carrier family 22 member 18 isoform b
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
16314844 GOA
Biological Process GO Annotation Evidence References Source
involved in xenobiotic detoxification by transmembrane export across the plasma membrane IDA
IDA: Inferred from direct assay
9744804 GOA
involved in xenobiotic transport IDA
IDA: Inferred from direct assay
9744804 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
9744804 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
16314844 GOA
located in nuclear envelope IDA
IDA: Inferred from direct assay
16314844 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC22A18 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (27 - 330)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 424 a.a.
Protein Preferred Names Protein Names

solute carrier family 22 member 18

  • beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein

SLC22A18 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC22A18 Q96BI1 HSD17B11 Homo sapiens Q8NBQ5 32296183
Intra
SLC22A18 Q96BI1 HSD17B11 Homo sapiens Q8NBQ5 32296183
Intra
SLC22A18 Q96BI1 TLCD4 Homo sapiens Q96MV1 32296183
Intra
SLC22A18 Q96BI1 TLCD4 Homo sapiens Q96MV1 32296183
Intra
SLC22A18 Q96BI1 TLCD4 Homo sapiens Q96MV1 32296183
Intra
SLC22A18 Q96BI1 NKX3-1 Homo sapiens Q99801 32296183
Intra
SLC22A18 Q96BI1 NKX3-1 Homo sapiens Q99801 32296183
Intra
SLC22A18 Q96BI1 NKX3-1 Homo sapiens Q99801 32296183
Intra
SLC22A18 Q96BI1 TMX2 Homo sapiens Q9Y320 32296183
Intra
SLC22A18 Q96BI1 TMX2 Homo sapiens Q9Y320 32296183
Intra
SLC22A18 Q96BI1 TMX2 Homo sapiens Q9Y320 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Rhabdomyosarcoma, Embryonal, 1
  • Rhabdomyosarcoma 1

  • RMSE1

  • Rms1

  • Rhabdomyosarcoma, Somatic

  • Rhabdomyosarcoma Chromosomal Region

  • Rmscr

  • Rhabdomyosarcoma, Embryonal, Type 1

  • Rhabdomyosarcoma, Embryonal

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Breast Adenocarcinoma
  • Mammary Adenocarcinoma

  • Adenocarcinoma Of Breast

Embryonal Rhabdomyosarcoma
  • Rhabdomyosarcoma, Embryonal

  • Rhabdomyosarcoma Embryonal

  • Botryoid Rhabdomyosarcoma

  • Erms

  • Spindle Cell Rhabdomyosarcomas

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Hereditary Breast Cancer
  • Familial Breast Cancer

  • Familial Breast Carcinoma

  • Hereditary Breast Carcinoma

Rhabdomyosarcoma
Hepatoblastoma
Wilms Tumor 5
  • Wilms Tumor

  • WT5

  • Wilms Tumor Susceptibility-5

  • Wilms Tumor And Radial Bilateral Aplasia

  • Nephroblastoma

  • Wilms' Tumor

  • Wilms Tumor, Susceptibility To

  • Wtsl

  • Bilateral Radial Aplasia With Wilms Tumor

  • Embryonal Adenosarcoma

  • Embryonal Nephroma

  • Kidney Wilms Tumor

  • Kidney, Adenomyosarcoma, Embryonal

  • Kidney, Carcinosarcoma, Embryonal

  • Kidney, Embryoma

  • Kidney, Embryonal Mixed Tumor

  • Nephroma

  • Renal Adenosarcoma

  • Renal Cancer, Wilms

  • Renal Wilms Tumor

  • Tumor, Wilms

  • Hereditary Susceptibility To Wilms Tumor 5

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
  • Image Syndrome

  • IMAGE

  • Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

  • Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

  • Image Anomaly

  • Image Association

  • Fetal Growth Retardation

  • Pyle Metaphyseal Dysplasia

Childhood Hepatocellular Carcinoma
  • Pediatric Hepatocellular Carcinoma

  • Childhood Carcinoma Of Liver Cell

  • Childhood Hepatoma

  • Childhood Liver Cell Carcinoma

  • Pediatric Carcinoma Of Liver Cell

  • Pediatric Hepatoma

  • Pediatric Liver Cell Carcinoma

  • Childhood-Onset Hcc

  • Childhood-Onset Hepatocellular Carcinoma

  • Pediatric Hcc

  • Childhood Liver Cancer

Silver-Russell Syndrome 1
  • Silver-Russell Syndrome

  • Russell-Silver Syndrome

  • Silver-Russell Dwarfism

  • Rss

  • SRS1

  • Srs

  • Silver Russell Dwarfism

  • Russell Silver Syndrome

  • Silver Russell Syndrome

Wilms Tumor 1
  • Nephroblastoma

  • Wilms Tumor

  • WT1

  • Wilms' Tumor

  • Bilateral Wilms Tumor

  • Wilms Tumor, Type 1

  • Wilms Tumor, Somatic

  • Adult Nephroblastoma

  • Wt1 Disorder

  • Renal Embryonic Tumor

  • Adult Kidney Wilms Tumor

  • Childhood Kidney Wilms Tumor

  • Nonanaplastic Kidney Wilms Tumor

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris SLC22A18 VGNC VGNC:52047
Felis catus SLC22A18 VGNC VGNC:65243
Macaca mulatta SLC22A18 VGNC VGNC:101397
Bos taurus SLC22A18 VGNC VGNC:34726
Rattus norvegicus SLC22A18 RGD RGD:1303323
Mus musculus SLC22A18 MGD MGI:1336884
Others SLC22A18 NCBI