SLC16A11
protein-codingsolute carrier family 16 member 11, the group of Solute carrier family 16
Gene summary
Enables pyruvate transmembrane transporter activity. Involved in lipid metabolic process. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~2.5 kbGenCC 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 SLC16A11 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001370549.1. 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 | 0 | |||||
| missense | 88 | 4 | 92 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 88 | 4 | 0 | 92 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001357478.1 | 4 | MANE Select | |
| Ensembl | ENSP00000460927.2 | 4 | MANE Select | |
| RefSeq | NP_001357482.1 | 3 | Standard | |
| RefSeq | NP_699188.2 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- lipid metabolic process
- monocarboxylic acid transport
- pyruvate transmembrane transport
Molecular Function
- protein binding
- monocarboxylic acid transmembrane transporter activity
- symporter activity
- pyruvate transmembrane transporter activity
Cellular Component
- endoplasmic reticulum membrane
- plasma membrane
- integral component of plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000308009
- Coding exons
- 4
- Length
- 2294
- Individuals with no LoFs
- 124958
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 119
- Defined
- 125077
- p
- 0.000476
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.378 | 244 | 261 | 0.934 | 0.0000129 | 2827 |
| Missense (PolyPhen) | 103 | 111.35 | 0.925 | 1251 | ||
| Synonymous | -0.0120 | 130 | 130 | 1.00 | 0.00000703 | 1153 |
| Loss of Function | 0.515 | 9 | 10.8 | 0.831 | 4.73e-7 | 108 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0065 | 0.0060 | notable |
| Latino/Admixed American | 0.00032 | 0.00032 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.00020 | 0.00019 | rare |
| European (Non-Finnish) | 0.000039 | 0.000036 | rare |
| South Asian | 0.000068 | 0.000065 | rare |
| Other | 0.00018 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Proton-linked monocarboxylate transporter. It catalyzes the transport of pyruvate across the plasma membrane (PubMed:28666119). Probably involved in hepatic lipid metabolism: overexpression results in an increase of triacylglycerol(TAG) levels, small increases in intracellular diacylglycerols and decreases in lysophosphatidylcholine, cholesterol ester and sphingomyelin lipids (PubMed:24390345). {ECO:0000269|PubMed:24390345, ECO:0000269|PubMed:28666119}.;
Recessive Scores
- pRec
- 0.102
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.533
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |