FLOT2

flotillin 2, the group of Flotillins

Basic information

Region (hg38): 17:28879335-28897733

Previous symbols: [ "M17S1" ]

Links

ENSG00000132589 ∙ NCBI:2319 ∙ OMIM:131560 ∙ HGNC:3758 ∙ Uniprot:Q14254 ∙ 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 FLOT2 gene.

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.

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			30		2	32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	0	3

Variants in FLOT2

This is a list of pathogenic ClinVar variants found in the FLOT2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-28880592-A-G		not specified	Uncertain significance (Jan 04, 2022)
17-28880824-A-C		not specified	Uncertain significance (Jul 12, 2022)
17-28881236-C-T		not specified	Uncertain significance (Jun 30, 2024)
17-28881238-T-C		not specified	Uncertain significance (Mar 04, 2024)
17-28881271-C-T		not specified	Uncertain significance (Aug 13, 2021)
17-28881274-T-G		not specified	Uncertain significance (Sep 26, 2024)
17-28881287-T-C			Benign (Jun 21, 2018)
17-28881295-G-A		not specified	Uncertain significance (Jul 14, 2021)
17-28881310-G-A		not specified	Uncertain significance (Apr 12, 2022)
17-28881316-G-A		not specified	Uncertain significance (May 08, 2023)
17-28881323-C-T		not specified	Uncertain significance (Jun 14, 2022)
17-28881332-G-T		not specified	Uncertain significance (Oct 05, 2022)
17-28881333-G-C		not specified	Uncertain significance (Jan 20, 2023)
17-28881821-C-T		not specified	Uncertain significance (Jun 27, 2023)
17-28881857-C-T		not specified	Uncertain significance (Oct 08, 2024)
17-28881869-G-A		not specified	Uncertain significance (Apr 12, 2023)
17-28881881-T-C		not specified	Uncertain significance (Jun 07, 2024)
17-28881890-T-C		not specified	Uncertain significance (Aug 21, 2023)
17-28881898-C-T		not specified	Uncertain significance (Dec 19, 2023)
17-28881988-C-T		not specified	Uncertain significance (Jun 17, 2022)
17-28882027-G-C		not specified	Uncertain significance (Mar 24, 2023)
17-28882137-C-T		not specified	Uncertain significance (Jan 27, 2022)
17-28882140-A-C		not specified	Uncertain significance (Dec 14, 2022)
17-28882185-T-C		not specified	Uncertain significance (Jun 24, 2022)
17-28882221-T-G		not specified	Uncertain significance (Dec 17, 2023)

GnomAD

Source: gnomAD

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: dbNSFP

• 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