This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have b... See more...

Aliases for FLRT3 Gene

Aliases for FLRT3 Gene

  • Fibronectin Leucine Rich Transmembrane Protein 3 2 3 5
  • Fibronectin-Like Domain-Containing Leucine-Rich Transmembrane Protein 3 3 4
  • Leucine-Rich Repeat Transmembrane Protein FLRT3 3 4
  • KIAA1469 4
  • FLRT3 5
  • HH21 3

External Ids for FLRT3 Gene

Previous GeneCards Identifiers for FLRT3 Gene

  • GC20M014292
  • GC20M014298
  • GC20M014299
  • GC20M014251

Summaries for FLRT3 Gene

Entrez Gene Summary for FLRT3 Gene

  • This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010]

GeneCards Summary for FLRT3 Gene

FLRT3 (Fibronectin Leucine Rich Transmembrane Protein 3) is a Protein Coding gene. Diseases associated with FLRT3 include Hypogonadotropic Hypogonadism 21 With Or Without Anosmia and Kallmann Syndrome. Among its related pathways are Signaling by GPCR and Downstream signaling of activated FGFR2. Gene Ontology (GO) annotations related to this gene include protein binding, bridging and chemorepellent activity. An important paralog of this gene is FLRT1.

UniProtKB/Swiss-Prot Summary for FLRT3 Gene

  • Functions in cell-cell adhesion, cell migration and axon guidance, exerting an attractive or repulsive role depending on its interaction partners. Plays a role in the spatial organization of brain neurons. Plays a role in vascular development in the retina (By similarity). Plays a role in cell-cell adhesion via its interaction with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells (PubMed:26235030). Interaction with the intracellular domain of ROBO1 mediates axon attraction towards cells expressing NTN1. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5B, and possibly also other UNC-5 family members (By similarity). Promotes neurite outgrowth (in vitro) (PubMed:14706654). Mediates cell-cell contacts that promote an increase both in neurite number and in neurite length. Plays a role in the regulation of the density of glutamaergic synapses. Plays a role in fibroblast growth factor-mediated signaling cascades. Required for normal morphogenesis during embryonic development, but not for normal embryonic patterning. Required for normal ventral closure, headfold fusion and definitive endoderm migration during embryonic development. Required for the formation of a normal basement membrane and the maintenance of a normal anterior visceral endoderm during embryonic development (By similarity).

Gene Wiki entry for FLRT3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FLRT3 Gene

Genomics for FLRT3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FLRT3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J014332 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +2.7 2705 6.3 ZNF654 ZNF600 SSRP1 JUND ATF2 CEBPA ATF3 ZIC2 YY1 CEBPB FLRT3 GAPDHP2 TASP1 lnc-SEL1L2-3 RF00994-571 MACROD2 SEL1L2
GH20J014287 Enhancer 0.7 Ensembl ENCODE dbSUPER 4.4 +48.8 48836 3.9 JUND CREB1 FOS RNU6-228P FLRT3 RF00994-570 piR-61580-373 MACROD2 SEL1L2
GH20J015162 Enhancer 0.6 ENCODE 4.9 -824.8 -824802 0.9 IRF4 BATF HNF4A TCF7 JUNB SP1 PKNOX1 IRF2 IKZF2 YY1 FLRT3 piR-48950-109 RF01045-078
GH20J014360 Enhancer 0.2 Ensembl 11.9 -22.7 -22654 0.2 FLRT3 RF00026-606 RNU6-228P HSALNG0128803 MACROD2
GH20J014313 Enhancer 0.3 Ensembl 4.5 +24.0 24046 0.4 FOXA2 RNU6-228P FLRT3 RF00994-571 lnc-SEL1L2-3 MACROD2 SEL1L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FLRT3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FLRT3

Top Transcription factor binding sites by QIAGEN in the FLRT3 gene promoter:
  • CUTL1
  • Lhx3a
  • LHX3b
  • Olf-1
  • SRY

Genomic Locations for FLRT3 Gene

Latest Assembly
chr20:14,322,985-14,337,847
(GRCh38/hg38)
Size:
14,863 bases
Orientation:
Minus strand

Previous Assembly
chr20:14,303,631-14,318,258
(GRCh37/hg19 by Entrez Gene)
Size:
14,628 bases
Orientation:
Minus strand

chr20:14,303,634-14,318,262
(GRCh37/hg19 by Ensembl)
Size:
14,629 bases
Orientation:
Minus strand

Genomic View for FLRT3 Gene

Genes around FLRT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLRT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FLRT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLRT3 Gene

Proteins for FLRT3 Gene

  • Protein details for FLRT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZU0-FLRT3_HUMAN
    Recommended name:
    Leucine-rich repeat transmembrane protein FLRT3
    Protein Accession:
    Q9NZU0
    Secondary Accessions:
    • D3DW20
    • Q542Z9
    • Q96K39
    • Q96K42
    • Q96KB1
    • Q9P259

    Protein attributes for FLRT3 Gene

    Size:
    649 amino acids
    Molecular mass:
    73004 Da
    Quaternary structure:
    • Monomer and homodimer. Self-associates (via leucine-rich repeats), giving rise to homooligomers (PubMed:26235030). Interacts with FGFR1. Interacts (via extracellular domain) with ADGRL1/LPHN1 and LPHN2 (via olfactomedin-like domain) (By similarity). Interacts (via extracellular domain) with ADGRL3 (via olfactomedin-like domain); the interaction is direct (PubMed:26235030). Interacts (via extracellular domain) with UNC5B and UNC5D (via extracellular domain); the interaction is direct (PubMed:26235030). Identified in complexes composed of FLRT3, ADGRL3 and UNC5B, respectively FLRT3, ADGRL3 and UNC5D (PubMed:26235030). May also interact (via extracellular domain) with UNC5A and UNC5C. Interacts (via cytoplasmic domain) with ROBO1 (By similarity).
    SequenceCaution:
    • Sequence=BAA95993.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55282.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55303.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FLRT3 Gene

neXtProt entry for FLRT3 Gene

Post-translational modifications for FLRT3 Gene

  • N-glycosylated.
  • Proteolytic cleavage in the juxtamembrane region gives rise to a soluble ectodomain. Cleavage is probably effected by a metalloprotease.
  • Glycosylation at Asn226, Asn282, Asn296, Thr510, Thr511, and Thr512
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FLRT3_HUMAN (1454)

Other Protein References for FLRT3 Gene

No data available for DME Specific Peptides for FLRT3 Gene

Domains & Families for FLRT3 Gene

Gene Families for FLRT3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for FLRT3 Gene

InterPro:
Blocks:
  • Cysteine-rich flanking region, N-terminal
  • Cysteine-rich flanking region, C-terminal

Suggested Antigen Peptide Sequences for FLRT3 Gene

GenScript: Design optimal peptide antigens:
  • Fibronectin-like domain-containing leucine-rich transmembrane protein 3 (FLRT3_HUMAN)
  • cDNA FLJ90402 fis, clone NT2RP2006004, highly similar to Leucine-rich repeat transmembrane protein FLRT3 (Q8NC95_HUMAN)
genes like me logo Genes that share domains with FLRT3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FLRT3 Gene

Function for FLRT3 Gene

Molecular function for FLRT3 Gene

UniProtKB/Swiss-Prot Function:
Functions in cell-cell adhesion, cell migration and axon guidance, exerting an attractive or repulsive role depending on its interaction partners. Plays a role in the spatial organization of brain neurons. Plays a role in vascular development in the retina (By similarity). Plays a role in cell-cell adhesion via its interaction with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells (PubMed:26235030). Interaction with the intracellular domain of ROBO1 mediates axon attraction towards cells expressing NTN1. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5B, and possibly also other UNC-5 family members (By similarity). Promotes neurite outgrowth (in vitro) (PubMed:14706654). Mediates cell-cell contacts that promote an increase both in neurite number and in neurite length. Plays a role in the regulation of the density of glutamaergic synapses. Plays a role in fibroblast growth factor-mediated signaling cascades. Required for normal morphogenesis during embryonic development, but not for normal embryonic patterning. Required for normal ventral closure, headfold fusion and definitive endoderm migration during embryonic development. Required for the formation of a normal basement membrane and the maintenance of a normal anterior visceral endoderm during embryonic development (By similarity).
GENATLAS Biochemistry:
fibronectin,leucine rich transmembrane protein 3,extracellular membrane,expressed in kidney,brain,pancreas,skeletal muscle,lung,liver,placenta,heart,related to ECM small leucine-rich proteoglycans

Phenotypes From GWAS Catalog for FLRT3 Gene

Gene Ontology (GO) - Molecular Function for FLRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005104 fibroblast growth factor receptor binding IEA --
GO:0005515 protein binding IPI 26235030
GO:0030674 protein binding, bridging NAS 10644439
GO:0042803 protein homodimerization activity IDA 26235030
GO:0045499 chemorepellent activity IEA --
genes like me logo Genes that share ontologies with FLRT3: view
genes like me logo Genes that share phenotypes with FLRT3: view

Human Phenotype Ontology for FLRT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FLRT3 Gene

MGI Knock Outs for FLRT3:

Animal Models for research

  • Taconic Biosciences Mouse Models for FLRT3

miRNA for FLRT3 Gene

miRTarBase miRNAs that target FLRT3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLRT3

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FLRT3 Gene

Localization for FLRT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLRT3 Gene

Cell membrane. Single-pass membrane protein. Endoplasmic reticulum membrane. Cell junction, focal adhesion. Secreted. Cell projection, axon. Cell projection, growth cone membrane. Note=Detected on dendritic punctae that colocalize in part with glutamaergic synapses, but not with GABAergic synapses. Proteolytic cleavage in the juxtamembrane region gives rise to a shedded ectodomain. {ECO:0000250 UniProtKB:B1H234, ECO:0000250 UniProtKB:Q8BGT1}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLRT3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 4
peroxisome 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cell Junctions (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FLRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with FLRT3: view

Pathways & Interactions for FLRT3 Gene

genes like me logo Genes that share pathways with FLRT3: view

Pathways by source for FLRT3 Gene

Gene Ontology (GO) - Biological Process for FLRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003345 proepicardium cell migration involved in pericardium morphogenesis IEA,ISS --
GO:0007155 cell adhesion IEA --
GO:0007275 multicellular organism development IEA --
GO:0007411 axon guidance IEA --
GO:0007416 synapse assembly IEA,ISS --
genes like me logo Genes that share ontologies with FLRT3: view

No data available for SIGNOR curated interactions for FLRT3 Gene

Drugs & Compounds for FLRT3 Gene

No Compound Related Data Available

Transcripts for FLRT3 Gene

mRNA/cDNA for FLRT3 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLRT3

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for FLRT3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b
SP1: -
SP2: - -
SP3:

Relevant External Links for FLRT3 Gene

GeneLoc Exon Structure for
FLRT3

Expression for FLRT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FLRT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FLRT3 Gene

This gene is overexpressed in Lung (x5.1) and Kidney - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for FLRT3 Gene

This gene is overexpressed in Lung (29.2), Pancreas (13.8), Bone (10.3), and Cerebral cortex (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FLRT3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FLRT3

SOURCE GeneReport for Unigene cluster for FLRT3 Gene:

Hs.41296

mRNA Expression by UniProt/SwissProt for FLRT3 Gene:

Q9NZU0-FLRT3_HUMAN
Tissue specificity: Expressed in kidney, brain, pancreas, skeletal muscle, lung, liver, placenta, and heart.

Evidence on tissue expression from TISSUES for FLRT3 Gene

  • Nervous system(4.7)
  • Kidney(4.4)
  • Liver(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FLRT3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FLRT3: view

No data available for Protein tissue co-expression partners for FLRT3 Gene

Orthologs for FLRT3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FLRT3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FLRT3 29 30
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FLRT3 29 30
  • 93.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FLRT3 29 30
  • 93.12 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FLRT3 30
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Flrt3 29 16 30
  • 90.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Flrt3 29
  • 90.19 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FLRT3 30
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FLRT3 29 30
  • 79.29 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FLRT3 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia flrt3 29
  • 74.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii flrt3 29 30
  • 68.57 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 34 (a)
ManyToMany
-- 30
  • 33 (a)
ManyToMany
Species where no ortholog for FLRT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FLRT3 Gene

ENSEMBL:
Gene Tree for FLRT3 (if available)
TreeFam:
Gene Tree for FLRT3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FLRT3: view image
Alliance of Genome Resources:
Additional Orthologs for FLRT3

Paralogs for FLRT3 Gene

(2) SIMAP similar genes for FLRT3 Gene using alignment to 1 proteins:

  • FLRT3_HUMAN
genes like me logo Genes that share paralogs with FLRT3: view

Variants for FLRT3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FLRT3 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1029224 Uncertain Significance: Hypogonadotropic hypogonadism 21 with or without anosmia 14,326,252(-) T/A
NM_198391.3(FLRT3):c.1255A>T (p.Thr419Ser)
MISSENSE_VARIANT,INTRON
932377 Uncertain Significance: not provided 14,325,678(-) A/G
NM_198391.3(FLRT3):c.1829T>C (p.Val610Ala)
MISSENSE_VARIANT,INTRON
rs115086094 Benign: not provided 14,326,403(-) A/G
NM_198391.3(FLRT3):c.1104T>C (p.Thr368=)
SYNONYMOUS_VARIANT,INTRON
rs1345083050 Uncertain Significance: Severe Myopia 14,325,865(-) C/G
NM_198391.3(FLRT3):c.1642G>C (p.Val548Leu)
MISSENSE_VARIANT,INTRON
rs141238925 Likely Benign: not provided 14,326,559(-) T/A
NM_198391.3(FLRT3):c.948A>T (p.Val316=)
SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FLRT3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FLRT3 Gene

Variant ID Type Subtype PubMed ID
esv3409883 CNV insertion 20981092
esv3893290 CNV gain 25118596
nsv458872 CNV gain 19166990
nsv470540 CNV gain 18288195
nsv585439 CNV gain 21841781

Variation tolerance for FLRT3 Gene

Residual Variation Intolerance Score: 28.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.89; 87.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FLRT3 Gene

Human Gene Mutation Database (HGMD)
FLRT3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLRT3
Leiden Open Variation Database (LOVD)
FLRT3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLRT3 Gene

Disorders for FLRT3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FLRT3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 21 with or without anosmia
  • hh21
kallmann syndrome
  • familial hypogonadism with anosmia
hypogonadotropic hypogonadism
  • congenital idiopathic hypogonadotropic hypogonadism
hypogonadism
renal hypodysplasia/aplasia 1
  • rhda1
- elite association - COSMIC cancer census association via MalaCards
Search FLRT3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FLRT3_HUMAN
  • Hypogonadotropic hypogonadism 21 with or without anosmia (HH21) [MIM:615271]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269 PubMed:23643382}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FLRT3 also have a mutation in another HH-associated gene including FGFR1, HS6ST1 and FGF17 (PubMed:23643382). {ECO:0000269 PubMed:23643382}.

Additional Disease Information for FLRT3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FLRT3: view

No data available for Genatlas for FLRT3 Gene

Publications for FLRT3 Gene

  1. Identification of FLRT1, FLRT2, and FLRT3: a novel family of transmembrane leucine-rich repeat proteins. (PMID: 10644439) Lacy SE … Kunkel LM (Genomics 1999) 2 3 4
  2. Structural Basis of Latrophilin-FLRT-UNC5 Interaction in Cell Adhesion. (PMID: 26235030) Lu YC … Araç D (Structure (London, England : 1993) 2015) 3 4
  3. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. (PMID: 23643382) Miraoui H … Pitteloud N (American journal of human genetics 2013) 4 72
  4. Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. (PMID: 18593871) Kuniba H … Niikawa N (Journal of medical genetics 2008) 3 40
  5. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4

Products for FLRT3 Gene

  • Boster Bio Antibodies for FLRT3
  • Boster Bio ELISA Kits for FLRT3

Sources for FLRT3 Gene