SLC12A8

solute carrier family 12 member 8, the group of MicroRNA protein coding host genes|Solute carrier family 12

Basic information

Region (hg38): 3:125082636-125212864

Links

ENSG00000221955NCBI:84561OMIM:611316HGNC:15595Uniprot:A0AV02AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC12A8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC12A8 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
0
missense
55
clinvar
4
clinvar
59
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 55 4 0

Variants in SLC12A8

This is a list of pathogenic ClinVar variants found in the SLC12A8 region.

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

Position Type Phenotype Significance ClinVar
3-125083915-C-T not specified Uncertain significance (Dec 17, 2023)3162905
3-125083942-C-G not specified Uncertain significance (May 10, 2023)2535591
3-125083942-C-T not specified Uncertain significance (Mar 25, 2024)3318842
3-125083955-C-T not specified Uncertain significance (Aug 31, 2022)2409775
3-125083987-A-T not specified Uncertain significance (Mar 31, 2022)2281156
3-125083991-C-G not specified Uncertain significance (Apr 19, 2023)2525001
3-125084017-G-A not specified Uncertain significance (Jul 26, 2021)2385510
3-125084029-T-A not specified Uncertain significance (Jun 03, 2022)2293820
3-125088343-C-T not specified Uncertain significance (Oct 20, 2021)2221748
3-125091451-C-G not specified Uncertain significance (Aug 02, 2021)3162904
3-125091460-C-T not specified Likely benign (Jan 20, 2023)2476958
3-125091463-G-A not specified Uncertain significance (Oct 06, 2021)2398635
3-125091510-G-T not specified Uncertain significance (Oct 26, 2021)2257396
3-125092115-C-T not specified Uncertain significance (Sep 16, 2021)2335271
3-125092141-A-G not specified Uncertain significance (Mar 17, 2023)2526388
3-125092147-G-A not specified Uncertain significance (Dec 01, 2022)2331302
3-125092170-T-A not specified Uncertain significance (Apr 04, 2023)2532862
3-125107489-C-T not specified Uncertain significance (Jun 18, 2021)2233558
3-125107498-G-A not specified Uncertain significance (Jul 14, 2023)2602699
3-125107559-C-T not specified Uncertain significance (Jun 13, 2023)2517059
3-125107580-T-C not specified Uncertain significance (Feb 22, 2023)2487581
3-125107623-G-C not specified Uncertain significance (Aug 04, 2023)2616018
3-125107654-G-T not specified Uncertain significance (May 26, 2022)2291581
3-125107664-C-T not specified Uncertain significance (May 24, 2023)2551881
3-125107840-C-T not specified Uncertain significance (Nov 08, 2022)2324757

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SLC12A8protein_codingprotein_codingENST00000393469 13196542
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.31e-190.011712456622861248540.00115
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.3064294121.040.00002314605
Missense in Polyphen175175.530.996961973
Synonymous-0.2421871831.020.00001161500
Loss of Function0.5183033.20.9030.00000158362

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.007200.00705
Ashkenazi Jewish0.003000.00298
East Asian0.0004450.000445
Finnish0.0002820.000278
European (Non-Finnish)0.0008070.000803
Middle Eastern0.0004450.000445
South Asian0.0004920.000490
Other0.001000.000989

dbNSFP

Source: dbNSFP

Function
FUNCTION: Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation. {ECO:0000269|PubMed:11863360}.;

Intolerance Scores

loftool
0.185
rvis_EVS
0.67
rvis_percentile_EVS
84.75

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.216
ghis
0.466

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.119

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Slc12a8
Phenotype
normal phenotype;

Zebrafish Information Network

Gene name
slc12a8
Affected structure
otolith
Phenotype tag
abnormal
Phenotype quality
malformed

Gene ontology

Biological process
cell volume homeostasis;chloride ion homeostasis;potassium ion homeostasis;chloride transmembrane transport;potassium ion import across plasma membrane
Cellular component
cell;integral component of membrane
Molecular function
potassium:chloride symporter activity