SLC22A11

solute carrier family 22 member 11, the group of Solute carrier family 22

Basic information

Region (hg38): 11:64555689-64572875

Links

ENSG00000168065 ∙ NCBI:55867 ∙ OMIM:607097 ∙ HGNC:18120 ∙ Uniprot:Q9NSA0 ∙ 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 SLC22A11 gene.

• Inborn genetic diseases (26 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC22A11 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					2	2
missense			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	0	2

Variants in SLC22A11

This is a list of pathogenic ClinVar variants found in the SLC22A11 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-64556004-C-T		SLC22A11-related disorder	Likely benign (Jun 07, 2023)
11-64556035-C-T			Benign (May 31, 2018)
11-64556062-G-A			Benign (May 31, 2018)
11-64556067-C-T		not specified	Uncertain significance (Nov 30, 2021)
11-64556129-A-T		not specified	Uncertain significance (Jan 17, 2024)
11-64556135-G-A		not specified	Uncertain significance (Jun 22, 2023)
11-64556141-C-T		SLC22A11-related disorder	Likely benign (Jun 08, 2022)
11-64556228-G-A		not specified	Uncertain significance (Apr 25, 2023)
11-64556243-C-A		not specified	Uncertain significance (Mar 21, 2023)
11-64556318-G-A		not specified	Uncertain significance (Nov 02, 2023)
11-64556361-G-T		not specified	Uncertain significance (Dec 27, 2022)
11-64556366-G-A		not specified	Uncertain significance (Apr 27, 2023)
11-64559195-G-A		not specified	Uncertain significance (Mar 07, 2024)
11-64562018-C-T		not specified	Uncertain significance (Dec 21, 2022)
11-64562055-G-A		SLC22A11-related disorder	Likely benign (Feb 23, 2022)
11-64562072-T-C		not specified	Uncertain significance (Jan 10, 2023)
11-64562104-C-T		not specified	Uncertain significance (Dec 21, 2022)
11-64562131-G-A		not specified	Uncertain significance (Jan 23, 2024)
11-64562331-C-A		not specified	Uncertain significance (Sep 12, 2023)
11-64562332-G-C		not specified	Uncertain significance (Dec 15, 2022)
11-64562342-C-T		not specified	Uncertain significance (Sep 14, 2022)
11-64564324-G-A		not specified	Uncertain significance (Oct 12, 2021)
11-64564327-C-T		not specified	Uncertain significance (Nov 10, 2022)
11-64564424-T-C		not specified	Uncertain significance (Jun 29, 2023)
11-64565297-C-T		not specified	Uncertain significance (Jun 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC22A11	protein_coding	protein_coding	ENST00000301891	10	17250

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.30e-7	0.823	124967	4	777	125748	0.00311

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.238	338	351	0.964	0.0000227	3525
Missense in Polyphen		98	105.18	0.93171		1180
Synonymous	0.0479	155	156	0.995	0.0000107	1204
Loss of Function	1.48	14	21.4	0.654	9.20e-7	229

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00362	0.00361
Ashkenazi Jewish	0.0145	0.0145
East Asian	0.000713	0.000598
Finnish	0.00153	0.00153
European (Non-Finnish)	0.00416	0.00414
Middle Eastern	0.000713	0.000598
South Asian	0.000163	0.000163
Other	0.00440	0.00441

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates saturable uptake of estrone sulfate, dehydroepiandrosterone sulfate and related compounds. {ECO:0000269|PubMed:10660625, ECO:0000269|PubMed:15102942, ECO:0000269|PubMed:15291761}.
• Pathway: Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics;Uricosurics Pathway, Pharmacodynamics;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: 0.101

Intolerance Scores

• loftool: 0.836
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.76

Haploinsufficiency Scores

• pHI: 0.166
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.546

Gene Damage Prediction

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

Gene ontology

• Biological process: inorganic anion transport;organic anion transport;urate metabolic process;transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane;external side of plasma membrane;apical plasma membrane;extracellular exosome
• Molecular function: inorganic anion exchanger activity;protein binding;organic anion transmembrane transporter activity;sodium-independent organic anion transmembrane transporter activity