FLOT2
flotillin 2, the group of Flotillins
Basic information
Region (hg38): 17:28879335-28897733
Previous symbols: [ "M17S1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (60 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLOT2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004475.3. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | |||||
| missense | 59 | 61 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 59 | 1 | 3 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FLOT2 | protein_coding | protein_coding | ENST00000394908 | 11 | 18345 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000712 | 0.996 | 124867 | 0 | 32 | 124899 | 0.000128 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.76 | 194 | 276 | 0.702 | 0.0000181 | 2762 |
| Missense in Polyphen | 56 | 94.692 | 0.59139 | 849 | ||
| Synonymous | 0.861 | 101 | 113 | 0.897 | 0.00000772 | 852 |
| Loss of Function | 2.53 | 11 | 24.5 | 0.448 | 0.00000122 | 271 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000271 | 0.000271 |
| Ashkenazi Jewish | 0.000105 | 0.0000993 |
| East Asian | 0.000115 | 0.000111 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000186 | 0.000185 |
| Middle Eastern | 0.000115 | 0.000111 |
| South Asian | 0.0000981 | 0.0000980 |
| Other | 0.000165 | 0.000165 |
dbNSFP
Source:
- Function
- FUNCTION: May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. May be involved in epidermal cell adhesion and epidermal structure and function.;
- Pathway
- Insulin signaling pathway - Homo sapiens (human);Angiopoietin Like Protein 8 Regulatory Pathway;Insulin Signaling;p73 transcription factor network;Fibroblast growth factor-1;Neuronal System;Synaptic adhesion-like molecules;EGFR1;Validated transcriptional targets of TAp63 isoforms;Protein-protein interactions at synapses
(Consensus)
Recessive Scores
- pRec
- 0.194
Intolerance Scores
- loftool
- 0.395
- rvis_EVS
- -0.18
- rvis_percentile_EVS
- 40.16
Haploinsufficiency Scores
- pHI
- 0.590
- hipred
- Y
- hipred_score
- 0.756
- ghis
- 0.601
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.940
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Flot2
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); neoplasm; cellular phenotype; homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- flot2a
- Affected structure
- whole organism
- Phenotype tag
- abnormal
- Phenotype quality
- decreased length
Gene ontology
- Biological process
- membrane raft assembly;cell adhesion;epidermis development;negative regulation of gene expression;regulation of heterotypic cell-cell adhesion;regulation of toll-like receptor 3 signaling pathway;protein localization to plasma membrane raft;regulation of myoblast differentiation;protein stabilization;protein localization to plasma membrane;anterograde dendritic transport;regulation of postsynaptic membrane neurotransmitter receptor levels;negative regulation of amyloid precursor protein catabolic process;positive regulation of establishment of T cell polarity
- Cellular component
- uropod;acrosomal membrane;endosome;plasma membrane;caveola;cell-cell adherens junction;focal adhesion;membrane;basolateral plasma membrane;apical plasma membrane;flotillin complex;lamellipodium;endocytic vesicle;cortical actin cytoskeleton;cytoplasmic vesicle;vesicle;dendrite cytoplasm;cell-cell contact zone;perinuclear region of cytoplasm;extracellular exosome;glutamatergic synapse;anchored component of presynaptic active zone membrane
- Molecular function
- protease binding;protein binding;ionotropic glutamate receptor binding;protein heterodimerization activity