SLC4A8

solute carrier family 4 member 8, the group of Solute carrier family 4

Basic information

Region (hg38): 12:51391317-51515763

Links

ENSG00000050438 ∙ NCBI:9498 ∙ OMIM:605024 ∙ HGNC:11034 ∙ Uniprot:Q2Y0W8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (Limited), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC4A8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC4A8 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			27			27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	0	0

Variants in SLC4A8

This is a list of pathogenic ClinVar variants found in the SLC4A8 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-51425013-C-T		not specified	Uncertain significance (Oct 17, 2023)
12-51440714-G-A		not specified	Uncertain significance (Mar 31, 2024)
12-51453646-T-C		not specified	Uncertain significance (Aug 08, 2023)
12-51453681-A-G		not specified	Uncertain significance (Jan 04, 2024)
12-51453684-A-G		not specified	Uncertain significance (May 09, 2024)
12-51457483-G-T		not specified	Uncertain significance (Dec 06, 2023)
12-51458564-A-T		not specified	Uncertain significance (Feb 15, 2023)
12-51458567-G-A		not specified	Uncertain significance (Dec 15, 2023)
12-51460000-A-G		not specified	Uncertain significance (May 26, 2024)
12-51460017-G-A		not specified	Uncertain significance (Jun 05, 2023)
12-51460017-G-C		not specified	Uncertain significance (Dec 02, 2022)
12-51462389-C-T		not specified	Uncertain significance (Jun 06, 2023)
12-51463713-C-T		not specified	Uncertain significance (Feb 03, 2022)
12-51469724-G-T			Uncertain significance (Sep 22, 2021)
12-51469772-C-T		not specified	Uncertain significance (Jul 25, 2023)
12-51469784-G-A		not specified	Uncertain significance (Feb 27, 2024)
12-51471379-C-T		not specified	Uncertain significance (Aug 15, 2023)
12-51471531-T-C		not specified	Uncertain significance (Aug 08, 2022)
12-51474379-A-T		not specified	Uncertain significance (Nov 22, 2022)
12-51474400-C-A		not specified	Uncertain significance (Mar 01, 2024)
12-51474409-G-A		not specified	Uncertain significance (Jun 18, 2024)
12-51474425-A-G		not specified	Uncertain significance (Jun 19, 2024)
12-51475054-G-A		not specified	Uncertain significance (Apr 21, 2022)
12-51475175-C-T		not specified	Uncertain significance (Sep 06, 2022)
12-51475190-G-A		not specified	Uncertain significance (Apr 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC4A8	protein_coding	protein_coding	ENST00000453097	25	117880

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00151	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.06	319	598	0.533	0.0000315	7209
Missense in Polyphen		115	284.42	0.40433		3377
Synonymous	0.672	201	213	0.941	0.0000110	2105
Loss of Function	5.81	8	54.2	0.148	0.00000273	658

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000333	0.000333
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000705	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates electroneutral sodium- and carbonate-dependent chloride-HCO3(-) exchange with a Na(+):HCO3(-) stoichiometry of 2:1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport. May be regulated by osmolarity. {ECO:0000269|PubMed:10362779, ECO:0000269|PubMed:11133997}.
• Pathway: Transport of inorganic cations/anions and amino acids/oligopeptides;SLC-mediated transmembrane transport;Transport of small molecules;Bicarbonate transporters (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.114
• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.46

Haploinsufficiency Scores

• pHI: 0.0706
• hipred: Y
• hipred_score: 0.785
• ghis: 0.556

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.493

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc4a8
• Phenotype: renal/urinary system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: sodium ion transport;inorganic anion transport;bicarbonate transport;regulation of intracellular pH;anion transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane;neuronal cell body membrane;neuron projection
• Molecular function: inorganic anion exchanger activity;sodium:bicarbonate symporter activity;anion:anion antiporter activity