SLC26A11

solute carrier family 26 member 11, the group of Solute carrier family 26

Basic information

Region (hg38): 17:80219699-80253509

Links

ENSG00000181045NCBI:284129OMIM:610117HGNC:14471Uniprot:Q86WA9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC26A11 gene.

  • not_specified (102 variants)
  • not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC26A11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001166347.2. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
95
clinvar
7
clinvar
102
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 95 8 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SLC26A11protein_codingprotein_codingENST00000361193 1633802
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.01e-190.0022612561011371257480.000549
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2053683790.9700.00002423775
Missense in Polyphen8087.2820.91657865
Synonymous-1.702141851.160.00001311373
Loss of Function-0.1292827.31.030.00000116304

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001600.00160
Ashkenazi Jewish0.000.00
East Asian0.0008230.000816
Finnish0.0003000.000277
European (Non-Finnish)0.0004130.000404
Middle Eastern0.0008230.000816
South Asian0.0007190.000686
Other0.0006710.000652

dbNSFP

Source: dbNSFP

Function
FUNCTION: Exhibits sodium-independent sulfate anion transporter activity that may cooperate with SLC26A2 to mediate DIDS-sensitive sulfate uptake into high endothelial venules endothelial cells (HEVEC). {ECO:0000269|PubMed:12626430}.;
Pathway
Transport of inorganic cations/anions and amino acids/oligopeptides;SLC-mediated transmembrane transport;Transport of small molecules;Methionine and cysteine metabolism;Multifunctional anion exchangers (Consensus)

Recessive Scores

pRec
0.109

Intolerance Scores

loftool
0.0316
rvis_EVS
0.03
rvis_percentile_EVS
55.84

Haploinsufficiency Scores

pHI
0.0927
hipred
N
hipred_score
0.251
ghis
0.484

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.194

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Slc26a11
Phenotype
behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); homeostasis/metabolism phenotype;

Gene ontology

Biological process
ion transport;sulfate transport;sulfate transmembrane transport
Cellular component
nucleoplasm;lysosomal membrane;endoplasmic reticulum;Golgi apparatus;plasma membrane;integral component of plasma membrane;integral component of membrane;intracellular membrane-bounded organelle;extracellular exosome
Molecular function
secondary active sulfate transmembrane transporter activity;anion transmembrane transporter activity;sulfate transmembrane transporter activity;anion:anion antiporter activity