SLC22A11

protein-coding

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

Gene summary

The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

MANE transcript

NM_018484.4

Inheritance

—

ClinVar variants

U:75B:9

Top phenotype

SLC22A11-related disorder

gnomAD constraint

pLI —, LoF o/e 0.65

Max pathogenic AF

—

Genomic locus

chr11:64,555,690-64,572,875

External References & Databases

Ensembl (ENSG00000168065)

Transcript & Mutation Effects

hg38 • Region Span ~17.2 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC22A11 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 77

SLC22A11-related disorderTotal: 4

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018484.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	2 clinvar	3
missense			75 clinvar	5 clinvar		80
nonsense				1 clinvar		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	7	2	84

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018484.4	RefSeq	NP_060954.1	10	MANE Select
ENST00000301891.9	Ensembl	ENSP00000301891.4	10	MANE Select
NM_001307985.2	RefSeq	NP_001294914.1	8	Standard
ENST00000377581.7	Ensembl	ENSP00000366804.3	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

inorganic anion transport
organic anion transport
urate metabolic process
transmembrane transport

Molecular Function

inorganic anion exchanger activity
protein binding
organic anion transmembrane transporter activity
sodium-independent organic anion transmembrane transporter activity

Cellular Component

plasma membrane
integral component of plasma membrane
external side of plasma membrane
apical plasma membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000301891
Coding exons: 10
Length: 17250
Individuals with no LoFs: 124967
Homozygous LoFs: 4
Heterozygous LoFs: 777
Defined: 125748
p: 0.00311

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.238	338	351	0.964	0.0000227	3525
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0019	0.0019	notable
Latino/Admixed American	0.0017	0.0017	notable
Ashkenazi Jewish	0.014	0.014	notable
East Asian	0.00071	0.00060	rare
Finnish	0.0015	0.0015	notable
European (Non-Finnish)	0.0042	0.0041	notable
South Asian	0.00016	0.00016	rare
Other	0.0044	0.0044	notable

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.101

Intolerance Scores

LoFtool: 0.836
RVIS EVS: 0.02
RVIS percentile EVS: 55.76

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.546

Gene Damage Prediction

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