SLC22A18

solute carrier family 22 member 18, the group of Solute carrier family 22

Basic information

Region (hg38): 11:2899720-2925246

Previous symbols: [ "ORCTL2", "BWSCR1A", "IMPT1", "SLC22A1L" ]

Links

ENSG00000110628 ∙ NCBI:5002 ∙ OMIM:602631 ∙ HGNC:10964 ∙ Uniprot:Q96BI1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC22A18 gene.

• Inborn genetic diseases (29 variants)
• not provided (10 variants)
• not specified (1 variants)
• Lung adenocarcinoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC22A18 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			25	5	3	33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1		2	3
Total	0	0	26	6	7

Variants in SLC22A18

This is a list of pathogenic ClinVar variants found in the SLC22A18 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-2902596-A-G		not specified	Benign (Jan 02, 2020)
11-2903376-G-A		not specified	Uncertain significance (May 11, 2022)
11-2903396-G-A		not specified	Uncertain significance (Mar 03, 2023)
11-2903410-G-A			Benign (Nov 18, 2017)
11-2903436-G-A		not specified	Uncertain significance (Oct 17, 2023)
11-2908243-G-A		not specified	Uncertain significance (May 31, 2023)
11-2908249-T-C		not specified	Uncertain significance (Mar 01, 2023)
11-2909210-G-A		Rhabdomyosarcoma, somatic • SLC22A18-related disorder	Benign (May 04, 2020)
11-2909219-G-C		not specified	Uncertain significance (Oct 26, 2022)
11-2909224-G-T		not specified	Uncertain significance (Oct 06, 2021)
11-2909248-G-A		not specified	Uncertain significance (Aug 08, 2023)
11-2909257-C-G		not specified	Uncertain significance (Feb 16, 2023)
11-2909320-T-G		not specified	Uncertain significance (Jan 31, 2024)
11-2909344-C-T		not specified	Uncertain significance (Nov 08, 2022)
11-2909364-CG-C			Benign (Dec 31, 2019)
11-2909578-C-A		not specified	Uncertain significance (Dec 15, 2023)
11-2909586-A-G		not specified	Uncertain significance (Feb 14, 2023)
11-2909588-G-A		not specified	Uncertain significance (Apr 27, 2022)
11-2909599-A-G		not specified	Uncertain significance (Mar 16, 2022)
11-2909627-G-C			Likely benign (Jan 01, 2023)
11-2909638-G-A		not specified	Uncertain significance (Nov 19, 2022)
11-2909655-G-C		not specified	Uncertain significance (Dec 03, 2021)
11-2909685-G-A		not specified	Uncertain significance (Dec 20, 2023)
11-2909704-CG-C		SLC22A18-related disorder	Benign (May 04, 2020)
11-2916645-C-T		not specified	Uncertain significance (Dec 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC22A18	protein_coding	protein_coding	ENST00000380574	10	25526

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000646	0.720	125704	0	27	125731	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.116	262	267	0.980	0.0000175	2635
Missense in Polyphen		64	70.851	0.9033		733
Synonymous	0.547	123	131	0.939	0.00000955	976
Loss of Function	1.11	10	14.6	0.686	6.25e-7	166

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000623	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000196	0.000193
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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. {ECO:0000269|PubMed:9744804}.
• Disease: DISEASE: Rhabdomyosarcoma, embryonal, 1 (RMSE1) [MIM:268210]: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal 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. Note=The disease may be caused by mutations affecting the gene represented in this entry.
• Pathway: Transport of bile salts and organic acids, metal ions and amine compounds;SLC-mediated transmembrane transport;Transport of small molecules;Organic cation transport;Organic cation/anion/zwitterion transport (Consensus)

Intolerance Scores

• loftool: 0.481
• rvis_EVS: 1.25
• rvis_percentile_EVS: 93.42

Haploinsufficiency Scores

• pHI: 0.114
• hipred: N
• hipred_score: 0.177
• ghis: 0.396

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0779

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Slc22a18

Gene ontology

• Biological process: drug transmembrane transport;excretion;organic cation transport;drug transport;drug export
• Cellular component: nuclear envelope;cytoplasm;plasma membrane;membrane;integral component of membrane;apical plasma membrane
• Molecular function: drug transmembrane transporter activity;symporter activity;drug:proton antiporter activity;transmembrane transporter activity;ubiquitin protein ligase binding