SLC16A7

solute carrier family 16 member 7, the group of Solute carrier family 16

Basic information

Region (hg38): 12:59596028-59789855

Links

ENSG00000118596 ∙ NCBI:9194 ∙ OMIM:603654 ∙ HGNC:10928 ∙ Uniprot:O60669 ∙ 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 SLC16A7 gene.

• Inborn genetic diseases (22 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC16A7 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				1	1	2
missense			21	1	1	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	2	2

Variants in SLC16A7

This is a list of pathogenic ClinVar variants found in the SLC16A7 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-59704841-C-G		not specified	Uncertain significance (Mar 07, 2024)
12-59704906-A-G			Benign (Apr 04, 2018)
12-59704949-A-G		not specified	Uncertain significance (Sep 27, 2022)
12-59771251-G-A		not specified	Uncertain significance (Aug 19, 2023)
12-59771257-C-T		not specified	Uncertain significance (Mar 03, 2022)
12-59771258-G-A		not specified	Uncertain significance (May 25, 2022)
12-59771300-T-C		not specified	Uncertain significance (Feb 12, 2024)
12-59771302-G-T		not specified	Uncertain significance (May 17, 2023)
12-59771315-T-C		not specified	Uncertain significance (Jun 09, 2022)
12-59771332-C-G		not specified	Likely benign (May 11, 2022)
12-59774663-G-T		not specified	Uncertain significance (Oct 04, 2022)
12-59774671-T-C		not specified	Uncertain significance (Dec 09, 2023)
12-59774789-A-G		not specified	Uncertain significance (Nov 18, 2022)
12-59774805-T-C			Likely benign (Jun 20, 2018)
12-59774863-G-A		not specified	Uncertain significance (Dec 22, 2023)
12-59774897-A-G			Benign (Apr 04, 2018)
12-59774921-A-G		not specified	Uncertain significance (Apr 07, 2022)
12-59774969-C-T		not specified	Uncertain significance (Dec 13, 2023)
12-59775008-A-G		not specified	Uncertain significance (Dec 03, 2021)
12-59775136-T-A		not specified	Uncertain significance (Mar 24, 2023)
12-59775190-T-A		not specified	Uncertain significance (Jul 21, 2021)
12-59775191-C-T		not specified	Uncertain significance (Jul 21, 2021)
12-59775201-A-T		not specified	Uncertain significance (Jun 29, 2023)
12-59775236-A-G		not specified	Uncertain significance (Oct 17, 2023)
12-59775329-T-A		not specified	Uncertain significance (Jan 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC16A7	protein_coding	protein_coding	ENST00000261187	4	186548

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00582	0.974	125700	0	35	125735	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.279	246	259	0.951	0.0000128	3105
Missense in Polyphen		103	121.97	0.8445		1442
Synonymous	0.744	88	97.3	0.904	0.00000534	961
Loss of Function	2.04	6	14.3	0.419	8.31e-7	175

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000394	0.000392
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.000109	0.000109
South Asian	0.000164	0.000163
Other	0.000364	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Proton-coupled 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. Functions as high-affinity pyruvate transporter. {ECO:0000269|PubMed:9786900}.
• Pathway: Bile salt and organic anion SLC transporters;Glycolysis and Gluconeogenesis;Proton-coupled monocarboxylate transport;Transport of bile salts and organic acids, metal ions and amine compounds;SLC-mediated transmembrane transport;Transport of small molecules;Butanoate metabolism;Glycine, serine, alanine and threonine metabolism (Consensus)

Recessive Scores

• pRec: 0.154

Intolerance Scores

• loftool: 0.697
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.43

Haploinsufficiency Scores

• pHI: 0.0677
• hipred: N
• hipred_score: 0.219
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.336

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc16a7

Gene ontology

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