SLC16A8

solute carrier family 16 member 8, the group of Solute carrier family 16

Basic information

Region (hg38): 22:38078134-38084184

Links

ENSG00000100156 ∙ NCBI:23539 ∙ OMIM:610409 ∙ HGNC:16270 ∙ Uniprot:O95907 ∙ 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 SLC16A8 gene.

• not_specified (90 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC16A8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013356.3. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			88	3	2	93
nonsense						0
start loss						0
frameshift					1	1
splice donor/acceptor (+/-2bp)						0
Total	0	0	88	4	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC16A8	protein_coding	protein_coding	ENST00000320521	4	5960

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00897	0.820	125102	0	18	125120	0.0000719

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.928	221	263	0.839	0.0000156	3046
Missense in Polyphen		87	95.502	0.91098		1258
Synonymous	-0.190	134	131	1.02	0.00000854	1159
Loss of Function	1.08	4	7.12	0.562	3.06e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000628	0.0000624
Ashkenazi Jewish	0.000219	0.000199
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000120	0.000115
Middle Eastern	0.00	0.00
South Asian	0.0000370	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). {ECO:0000250}.
• Pathway: Pyruvate metabolism;Pyruvate metabolism and Citric Acid (TCA) cycle;Bile salt and organic anion SLC transporters;The citric acid (TCA) cycle and respiratory electron transport;Glycolysis and Gluconeogenesis;Metabolism;Proton-coupled monocarboxylate transport;Transport of bile salts and organic acids, metal ions and amine compounds;SLC-mediated transmembrane transport;Transport of small molecules;Cell surface interactions at the vascular wall;Hemostasis;Basigin interactions;Glycine, serine, alanine and threonine metabolism (Consensus)

Recessive Scores

• pRec: 0.0993

Haploinsufficiency Scores

• pHI: 0.192
• hipred: N
• hipred_score: 0.459
• ghis: 0.429

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.536

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc16a8
• Phenotype: vision/eye phenotype

Gene ontology

• Biological process: pyruvate metabolic process;monocarboxylic acid transport;lactate transport;lactate transmembrane transport;leukocyte migration
• Cellular component: plasma membrane;integral component of plasma membrane;membrane
• Molecular function: monocarboxylic acid transmembrane transporter activity;lactate transmembrane transporter activity;symporter activity