FLRT2

fibronectin leucine rich transmembrane protein 2, the group of Fibronectin type III domain containing

Basic information

Region (hg38): 14:85530144-85654428

Links

ENSG00000185070NCBI:23768OMIM:604807HGNC:3761Uniprot:O43155AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FLRT2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLRT2 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
clinvar
1
missense
33
clinvar
1
clinvar
34
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 33 1 1

Variants in FLRT2

This is a list of pathogenic ClinVar variants found in the FLRT2 region.

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

Position Type Phenotype Significance ClinVar
14-85621596-T-G not specified Uncertain significance (Apr 22, 2022)2380871
14-85621707-G-A not specified Uncertain significance (Dec 06, 2021)2353495
14-85621804-G-T not specified Uncertain significance (Jul 13, 2021)2236413
14-85621882-C-T not specified Uncertain significance (Dec 14, 2023)3095701
14-85621911-T-G not specified Uncertain significance (Aug 30, 2022)2369717
14-85621998-A-C not specified Uncertain significance (Jun 13, 2024)3279243
14-85622040-G-T not specified Uncertain significance (Jun 29, 2022)2298710
14-85622110-C-T not specified Uncertain significance (Mar 01, 2023)2468623
14-85622173-G-C not specified Uncertain significance (Jun 29, 2022)3095702
14-85622188-C-T not specified Uncertain significance (May 23, 2023)2518033
14-85622223-A-T not specified Uncertain significance (Apr 24, 2023)2539855
14-85622242-C-T not specified Uncertain significance (Feb 28, 2024)3095703
14-85622316-C-T not specified Uncertain significance (Sep 21, 2023)3095704
14-85622323-C-T not specified Uncertain significance (Oct 26, 2021)2257372
14-85622340-C-T not specified Uncertain significance (Dec 21, 2022)2228352
14-85622353-G-A not specified Uncertain significance (Oct 20, 2023)3095705
14-85622436-C-T not specified Uncertain significance (Feb 06, 2023)2480770
14-85622504-A-G Benign (Jun 29, 2018)768669
14-85622626-C-T not specified Uncertain significance (Aug 08, 2022)2305752
14-85622688-A-G Likely benign (Jun 29, 2018)711387
14-85622712-C-G not specified Uncertain significance (Jan 10, 2022)2343232
14-85622713-C-T not specified Uncertain significance (Sep 01, 2021)2401443
14-85622734-C-T not specified Uncertain significance (Jun 06, 2023)2517967
14-85622859-G-A not specified Uncertain significance (May 12, 2024)3279246
14-85622899-T-C not specified Uncertain significance (Jun 06, 2023)2521232

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FLRT2protein_codingprotein_codingENST00000330753 198547
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8170.183125725041257290.0000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.283143840.8170.00002374309
Missense in Polyphen57120.50.473011401
Synonymous-1.701891611.170.00001031361
Loss of Function3.37318.80.1600.00000112203

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.00009920.0000992
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.000008800.00000879
Middle Eastern0.00005440.0000544
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Functions in cell-cell adhesion, cell migration and axon guidance. Mediates cell-cell adhesion via its interactions with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells. May play a role in the migration of cortical neurons during brain development via its interaction with UNC5D. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5D, and possibly also other UNC-5 family members. Plays a role in fibroblast growth factor-mediated signaling cascades. Required for normal organization of the cardiac basement membrane during embryogenesis, and for normal embryonic epicardium and heart morphogenesis. {ECO:0000250|UniProtKB:Q8BLU0}.;
Pathway
Signal Transduction;Signaling by FGFR;Signaling by Receptor Tyrosine Kinases;Downstream signaling of activated FGFR1;Signaling by FGFR1 (Consensus)

Recessive Scores

pRec
0.110

Intolerance Scores

loftool
rvis_EVS
-0.04
rvis_percentile_EVS
50.45

Haploinsufficiency Scores

pHI
0.224
hipred
Y
hipred_score
0.696
ghis
0.505

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.537

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Flrt2
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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system 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); homeostasis/metabolism phenotype; cellular phenotype;

Gene ontology

Biological process
heart morphogenesis;axon guidance;biological_process;fibroblast growth factor receptor signaling pathway;negative chemotaxis;positive regulation of synapse assembly;cell adhesion involved in heart morphogenesis;basement membrane organization;regulation of neuron migration
Cellular component
endoplasmic reticulum membrane;plasma membrane;integral component of plasma membrane;cell-cell junction;focal adhesion;extracellular matrix;organelle membrane;neuron projection;synapse;extracellular exosome
Molecular function
fibroblast growth factor receptor binding;protein binding, bridging;chemorepellent activity