SLC16A5

solute carrier family 16 member 5, the group of Solute carrier family 16

Basic information

Region (hg38): 17:75087727-75106162

Links

ENSG00000170190 ∙ NCBI:9121 ∙ OMIM:603879 ∙ HGNC:10926 ∙ Uniprot:O15375 ∙ 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 SLC16A5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC16A5 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
missense			42	6		48
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	7	0

Variants in SLC16A5

This is a list of pathogenic ClinVar variants found in the SLC16A5 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-75093731-C-T		not specified	Uncertain significance (Oct 29, 2024)
17-75093739-G-A		not specified	Uncertain significance (Sep 09, 2024)
17-75093763-T-C		not specified	Likely benign (Nov 08, 2024)
17-75098041-C-T		not specified	Uncertain significance (Mar 20, 2023)
17-75098085-G-A		not specified	Likely benign (Aug 21, 2024)
17-75098085-G-C		not specified	Uncertain significance (Jul 09, 2021)
17-75098116-G-C		not specified	Uncertain significance (Oct 07, 2024)
17-75098139-C-T		not specified	Uncertain significance (Apr 12, 2022)
17-75098148-A-C		not specified	Uncertain significance (Dec 03, 2021)
17-75098158-A-G		not specified	Uncertain significance (Jun 09, 2022)
17-75100069-C-T		not specified	Uncertain significance (Jul 12, 2022)
17-75100087-G-A		not specified	Uncertain significance (Sep 22, 2023)
17-75100088-C-T		not specified	Uncertain significance (Jan 24, 2023)
17-75100094-C-A		not specified	Uncertain significance (Dec 03, 2024)
17-75100179-C-G		not specified	Uncertain significance (Jul 09, 2021)
17-75100186-T-C		not specified	Uncertain significance (Jan 08, 2025)
17-75100217-G-T		not specified	Uncertain significance (Mar 01, 2023)
17-75100234-C-T		not specified	Uncertain significance (Sep 16, 2022)
17-75100246-A-G		not specified	Uncertain significance (May 03, 2023)
17-75100270-T-C		not specified	Uncertain significance (Dec 01, 2024)
17-75100277-C-T		not specified	Uncertain significance (Jan 04, 2025)
17-75100334-A-C		not specified	Uncertain significance (Oct 07, 2024)
17-75100337-G-A		not specified	Uncertain significance (Jan 29, 2024)
17-75100354-A-T		not specified	Uncertain significance (Jan 07, 2025)
17-75100387-A-T		not specified	Uncertain significance (Jul 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC16A5	protein_coding	protein_coding	ENST00000450736	5	18436

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.00e-10	0.0689	125677	0	71	125748	0.000282

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.462	295	318	0.927	0.0000200	3258
Missense in Polyphen		81	110.47	0.73324		1219
Synonymous	1.32	119	139	0.857	0.00000936	1091
Loss of Function	0.0303	15	15.1	0.992	7.37e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000329	0.000329
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000988	0.000979
Finnish	0.000695	0.000693
European (Non-Finnish)	0.000198	0.000185
Middle Eastern	0.000988	0.000979
South Asian	0.000203	0.000196
Other	0.000328	0.000326

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}.

Intolerance Scores

• rvis_EVS: -0.24
• rvis_percentile_EVS: 36.23

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.146
• ghis: 0.511

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.412

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc16a5

Gene ontology

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