SLC2A11
protein-codingsolute carrier family 2 member 11, the group of Solute carrier family 2
Gene summary
This gene belongs to a family of proteins that mediate the transport of sugars across the cell membrane. The encoded protein transports glucose and fructose. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~29.6 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 SLC2A11 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001024939.4. 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 | 5 | ||||
| missense | 84 | 4 | 88 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 92 | 4 | 0 | 96 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001020110.1 | 12 | MANE Select | |
| Ensembl | ENSP00000326748.8 | 12 | MANE Select | |
| RefSeq | NP_001020109.1 | 12 | Standard | |
| RefSeq | NP_001269793.1 | 11 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| slc2a11b | Danio rerio | Structure: xanthophore Quality: absent abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Nuclear Receptors Meta-Pathway
- NRF2 pathway
- SLC-mediated transmembrane transport
- Transport of small molecules
- Fructose and mannose metabolism
Biological Process
- hexose transmembrane transport
Molecular Function
- sugar transmembrane transporter activity
Cellular Component
- nucleus
- plasma membrane
- integral component of membrane
- cell junction
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000398356
- Coding exons
- 12
- Length
- 29607
- Individuals with no LoFs
- 125316
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 430
- Defined
- 125748
- p
- 0.00172
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.517 | 280 | 305 | 0.917 | 0.0000185 | 3183 |
| Missense (PolyPhen) | 98 | 114.29 | 0.85748 | 1307 | ||
| Synonymous | 0.191 | 132 | 135 | 0.979 | 0.00000886 | 1089 |
| Loss of Function | 0.407 | 20 | 22.1 | 0.907 | 0.00000103 | 239 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0013 | 0.0013 | notable |
| Latino/Admixed American | 0.0010 | 0.00084 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0049 | 0.0049 | notable |
| Finnish | 0.0022 | 0.0021 | notable |
| European (Non-Finnish) | 0.00043 | 0.00042 | rare |
| South Asian | 0.0063 | 0.0062 | notable |
| Other | 0.0015 | 0.0015 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Facilitative glucose transporter. {ECO:0000269|PubMed:12175779}.;
Recessive Scores
- pRec
- 0.179
Intolerance Scores
- LoFtool
- 0.970
- RVIS EVS
- 0.76
- RVIS percentile EVS
- 86.8
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.353
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |