SLC22A8

solute carrier family 22 member 8, the group of Solute carrier family 22

Basic information

Region (hg38): 11:62989153-63015841

Links

ENSG00000149452 ∙ NCBI:9376 ∙ OMIM:607581 ∙ HGNC:10972 ∙ Uniprot:Q8TCC7 ∙ 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 SLC22A8 gene.

• Inborn genetic diseases (21 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC22A8 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	1	2
missense			19	3	2	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	4	3

Variants in SLC22A8

This is a list of pathogenic ClinVar variants found in the SLC22A8 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-62993257-G-T		not specified	Uncertain significance (Sep 22, 2022)
11-62993276-G-T			Benign (Apr 26, 2018)
11-62993290-C-A		not specified	Uncertain significance (Dec 21, 2022)
11-62993328-C-T			Likely benign (Sep 01, 2022)
11-62993548-C-T		not specified	Uncertain significance (Nov 15, 2021)
11-62993553-C-T		not specified	Uncertain significance (Jun 18, 2021)
11-62993607-C-T		not specified	Uncertain significance (Jun 29, 2023)
11-62993625-T-G		not specified	Uncertain significance (May 27, 2022)
11-62993822-A-T		not specified	Uncertain significance (Aug 26, 2022)
11-62994619-A-G		not specified	Uncertain significance (Feb 17, 2022)
11-62994728-A-G			Likely benign (May 31, 2018)
11-62995713-G-A		not specified	Uncertain significance (Feb 15, 2023)
11-62995732-G-A		not specified	Uncertain significance (Feb 16, 2023)
11-62995749-C-T		not specified	Uncertain significance (Apr 07, 2023)
11-62995792-T-A			Benign (Jul 15, 2020)
11-62996041-C-A		not specified	Uncertain significance (Jan 04, 2024)
11-62996072-A-G			Benign (Apr 26, 2018)
11-62998940-C-T		not specified	Likely benign (Nov 15, 2021)
11-62998991-C-T		not specified	Uncertain significance (Jan 02, 2024)
11-62999047-G-A		not specified	Uncertain significance (Feb 16, 2023)
11-62999725-A-C		not specified	Uncertain significance (Aug 17, 2021)
11-62999790-C-A		not specified	Uncertain significance (Aug 08, 2023)
11-63000742-C-T		not specified	Uncertain significance (Apr 11, 2023)
11-63014703-T-C		not specified	Uncertain significance (Jan 23, 2023)
11-63014739-G-A		not specified	Uncertain significance (Sep 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC22A8	protein_coding	protein_coding	ENST00000336232	10	26686

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.60e-9	0.476	125716	0	32	125748	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.972	276	325	0.848	0.0000189	3501
Missense in Polyphen		102	125.65	0.81179		1389
Synonymous	0.677	127	137	0.926	0.00000823	1152
Loss of Function	1.05	16	21.2	0.754	9.03e-7	246

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000496	0.000487
Ashkenazi Jewish	0.00	0.00
East Asian	0.000283	0.000272
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000539	0.0000527
Middle Eastern	0.000283	0.000272
South Asian	0.000308	0.000294
Other	0.000176	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an important role in the excretion/detoxification of endogenous and exogenous organic anions, especially from the brain and kidney. Involved in the transport basolateral of steviol, fexofenadine. Transports benzylpenicillin (PCG), estrone- 3-sulfate (E1S), cimetidine (CMD), 2,4-dichloro-phenoxyacetate (2,4-D), p-amino-hippurate (PAH), acyclovir (ACV) and ochratoxin (OTA). {ECO:0000269|PubMed:14586168, ECO:0000269|PubMed:15644426, ECO:0000269|PubMed:15846473, ECO:0000269|PubMed:16455804}.
• Pathway: Methotrexate Pathway (Brain Cell), Pharmacokinetics;Methotrexate Pathway, Pharmacokinetics;Bile secretion - Homo sapiens (human);Statin Pathway - Generalized, Pharmacokinetics;Pravastatin Pathway, Pharmacokinetics;Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics;Ibuprofen Pathway, Pharmacokinetics;Uricosurics Pathway, Pharmacodynamics;Ibuprofen Action Pathway;Ibuprofen Metabolism Pathway;Organic anion transport;Transport of bile salts and organic acids, metal ions and amine compounds;SLC-mediated transmembrane transport;Transport of small molecules;Organic cation/anion/zwitterion transport (Consensus)

Recessive Scores

• pRec: 0.187

Intolerance Scores

• loftool: 0.814
• rvis_EVS: -0.33
• rvis_percentile_EVS: 30.74

Haploinsufficiency Scores

• pHI: 0.279
• hipred: N
• hipred_score: 0.252
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.139

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc22a8
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); skeleton phenotype; renal/urinary system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: response to toxic substance;inorganic anion transport;anion transmembrane transport
• Cellular component: plasma membrane;integral component of membrane;basolateral plasma membrane;extracellular exosome
• Molecular function: inorganic anion exchanger activity;anion:anion antiporter activity