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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	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	Verweise	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	Verweise	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

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	Verweise
Intra	SLC22A18	Q96BI1	HSD17B11	Homo sapiens	Q8NBQ5	Y2H Prey Pooling	32296183
Intra	SLC22A18	Q96BI1	HSD17B11	Homo sapiens	Q8NBQ5	Y2H Array	32296183
Intra	SLC22A18	Q96BI1	TLCD4	Homo sapiens	Q96MV1	Validated Y2H	32296183
Intra	SLC22A18	Q96BI1	TLCD4	Homo sapiens	Q96MV1	Y2H Array	32296183
Intra	SLC22A18	Q96BI1	TLCD4	Homo sapiens	Q96MV1	Y2H Prey Pooling	32296183
Intra	SLC22A18	Q96BI1	NKX3-1	Homo sapiens	Q99801	Y2H Array	32296183
Intra	SLC22A18	Q96BI1	NKX3-1	Homo sapiens	Q99801	Y2H Prey Pooling	32296183
Intra	SLC22A18	Q96BI1	NKX3-1	Homo sapiens	Q99801	Validated Y2H	32296183
Intra	SLC22A18	Q96BI1	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
Intra	SLC22A18	Q96BI1	TMX2	Homo sapiens	Q9Y320	Validated Y2H	32296183
Intra	SLC22A18	Q96BI1	TMX2	Homo sapiens	Q9Y320	Y2H Array	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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS13071	SLC22A18 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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