SLC12A8

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

Basic information

Region (hg38): 3:125082635-125212864

Links

ENSG00000221955 ∙ NCBI:84561 ∙ OMIM:611316 ∙ HGNC:15595 ∙ Uniprot:A0AV02 ∙ 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 SLC12A8 gene.

• Inborn genetic diseases (47 variants)

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			43	4		47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	43	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)
3-125083942-C-G		not specified	Uncertain significance (May 10, 2023)
3-125083955-C-T		not specified	Uncertain significance (Aug 31, 2022)
3-125083987-A-T		not specified	Uncertain significance (Mar 31, 2022)
3-125083991-C-G		not specified	Uncertain significance (Apr 19, 2023)
3-125084017-G-A		not specified	Uncertain significance (Jul 26, 2021)
3-125084029-T-A		not specified	Uncertain significance (Jun 03, 2022)
3-125088343-C-T		not specified	Uncertain significance (Oct 20, 2021)
3-125091451-C-G		not specified	Uncertain significance (Aug 02, 2021)
3-125091460-C-T		not specified	Likely benign (Jan 20, 2023)
3-125091463-G-A		not specified	Uncertain significance (Oct 06, 2021)
3-125091510-G-T		not specified	Uncertain significance (Oct 26, 2021)
3-125092115-C-T		not specified	Uncertain significance (Sep 16, 2021)
3-125092141-A-G		not specified	Uncertain significance (Mar 17, 2023)
3-125092147-G-A		not specified	Uncertain significance (Dec 01, 2022)
3-125092170-T-A		not specified	Uncertain significance (Apr 04, 2023)
3-125107489-C-T		not specified	Uncertain significance (Jun 18, 2021)
3-125107498-G-A		not specified	Uncertain significance (Jul 14, 2023)
3-125107559-C-T		not specified	Uncertain significance (Jun 13, 2023)
3-125107580-T-C		not specified	Uncertain significance (Feb 22, 2023)
3-125107623-G-C		not specified	Uncertain significance (Aug 04, 2023)
3-125107654-G-T		not specified	Uncertain significance (May 26, 2022)
3-125107664-C-T		not specified	Uncertain significance (May 24, 2023)
3-125107840-C-T		not specified	Uncertain significance (Nov 08, 2022)
3-125107844-G-T		not specified	Uncertain significance (May 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC12A8	protein_coding	protein_coding	ENST00000393469	13	196542

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.31e-19	0.0117	124566	2	286	124854	0.00115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.306	429	412	1.04	0.0000231	4605
Missense in Polyphen		175	175.53	0.99696		1973
Synonymous	-0.242	187	183	1.02	0.0000116	1500
Loss of Function	0.518	30	33.2	0.903	0.00000158	362

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00720	0.00705
Ashkenazi Jewish	0.00300	0.00298
East Asian	0.000445	0.000445
Finnish	0.000282	0.000278
European (Non-Finnish)	0.000807	0.000803
Middle Eastern	0.000445	0.000445
South Asian	0.000492	0.000490
Other	0.00100	0.000989

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

• 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

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

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