SLC16A6

protein-coding

solute carrier family 16 member 6, the group of Solute carrier family 16

Gene summary

Predicted to enable monocarboxylic acid transmembrane transporter activity. Predicted to be involved in monocarboxylic acid transport. Predicted to be located in basolateral plasma membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_004694.5

Inheritance

—

ClinVar variants

U:74B:17

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.44

Max pathogenic AF

—

Genomic locus

chr17:68,267,026-68,291,267

External References & Databases

Ensembl (ENSG00000108932)

Transcript & Mutation Effects

hg38 • Region Span ~24.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC16A6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 84

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004694.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				5 clinvar	2 clinvar	7
missense			74 clinvar	10 clinvar		84
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	74	15	2	91

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004694.5	RefSeq	NP_004685.2	5	MANE Select
ENST00000580666.6	Ensembl	ENSP00000462985.1	5	MANE Select
NM_001174166.2	RefSeq	NP_001167637.1	5	Standard
ENST00000327268.8	Ensembl	ENSP00000319991.4	5	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
slc16a6a	Danio rerio	Structure: hepatocyte Quality: increased amount abnormal

Gene / Model

Organism

Observed Phenotype

slc16a6a

Danio rerio

Structure: hepatocyte

Quality: increased amount

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

monocarboxylic acid transport
transmembrane transport

Molecular Function

monocarboxylic acid transmembrane transporter activity
symporter activity

Cellular Component

integral component of plasma membrane
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000327268
Coding exons: 5
Length: 24242
Individuals with no LoFs: 125713
Homozygous LoFs: 0
Heterozygous LoFs: 35
Defined: 125748
p: 0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.84	211	301	0.701	0.0000172	3399
Missense (PolyPhen)		62	122.45	0.50635		1448
Synonymous	-0.400	124	118	1.05	0.00000755	1067
Loss of Function	2.04	7	15.7	0.445	7.65e-7	206

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00016	0.00016	rare
Finnish	0.00088	0.00088	rare
European (Non-Finnish)	0.000053	0.000044	rare
South Asian	0.00017	0.00016	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.116

Intolerance Scores

LoFtool: 0.532
RVIS EVS: -0.07
RVIS percentile EVS: 48.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.455

Gene Damage Prediction

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