GeneBe

SLC9A8

solute carrier family 9 member A8, the group of Solute carrier family 9

Basic information

Region (hg38): 20:49812713-49892242

Links

ENSG00000197818 ∙ NCBI:23315 ∙ OMIM:612730 ∙ HGNC:20728 ∙ Uniprot:Q9Y2E8 ∙ 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 SLC9A8 gene.

  • not_specified (56 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC9A8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015266.3. 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
2
clinvar
 2
missense
54
clinvar
1
clinvar
 55
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 54 3 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SLC9A8protein_codingprotein_codingENST00000417961 1679530
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.91e-100.7221256880591257470.000235
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.622663510.7570.00002013927
Missense in Polyphen71102.370.693591109
Synonymous-0.6271501411.070.000009381155
Loss of Function1.501927.50.6910.00000125340

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005810.000574
Ashkenazi Jewish0.0001980.000198
East Asian0.0002790.000272
Finnish0.00004630.0000462
European (Non-Finnish)0.0001950.000193
Middle Eastern0.0002790.000272
South Asian0.0003770.000359
Other0.0006980.000652

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. {ECO:0000269|PubMed:15522866}.;
Pathway
Sodium/Proton exchangers;Transport of inorganic cations/anions and amino acids/oligopeptides;SLC-mediated transmembrane transport;Transport of small molecules (Consensus)

Recessive Scores

pRec
0.151

Intolerance Scores

loftool
0.811
rvis_EVS
-0.67
rvis_percentile_EVS
15.86

Haploinsufficiency Scores

pHI
0.0652
hipred
Y
hipred_score
0.541
ghis
0.545

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.478

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Slc9a8
Phenotype
homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; digestive/alimentary phenotype; vision/eye phenotype; reproductive system phenotype; pigmentation phenotype;

Gene ontology

Biological process
ion transport;sodium ion transmembrane transport;regulation of intracellular pH;potassium ion transmembrane transport;proton transmembrane transport
Cellular component
Golgi membrane;Golgi apparatus;integral component of membrane
Molecular function
sodium:proton antiporter activity;potassium:proton antiporter activity