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Aliases for LRRFIP2 Gene

Aliases for LRRFIP2 Gene

  • LRR Binding FLII Interacting Protein 2 2 3 5
  • Leucine Rich Repeat (In FLII) Interacting Protein 2 2 3
  • LRR FLII-Interacting Protein 2 3 4
  • Leucine-Rich Repeat Flightless-Interacting Protein 2 3
  • HUFI-2 3

External Ids for LRRFIP2 Gene

Previous GeneCards Identifiers for LRRFIP2 Gene

  • GC03M036397
  • GC03M036907
  • GC03M037055
  • GC03M037054
  • GC03M037069
  • GC03M037036
  • GC03M037094

Summaries for LRRFIP2 Gene

Entrez Gene Summary for LRRFIP2 Gene

  • The protein encoded by this gene, along with MYD88, binds to the cytosolic tail of toll-like receptor 4 (TLR4), which results in activation of nuclear factor kappa B signaling. The ubiquitin-like protein FAT10 prevents the interaction of the encoded protein and TLR4, thereby inactivating the nuclear factor kappa B signaling pathway. In addition, this protein can downregulate the NLRP3 inflammasome by recruiting the caspase-1 inhibitor Flightless-I to the inflammasome complex. [provided by RefSeq, Jan 2017]

GeneCards Summary for LRRFIP2 Gene

LRRFIP2 (LRR Binding FLII Interacting Protein 2) is a Protein Coding gene. Diseases associated with LRRFIP2 include Lynch Syndrome. Gene Ontology (GO) annotations related to this gene include protein dimerization activity and LRR domain binding. An important paralog of this gene is LRRFIP1.

UniProtKB/Swiss-Prot for LRRFIP2 Gene

  • May function as activator of the canonical Wnt signaling pathway, in association with DVL3, upstream of CTNNB1/beta-catenin. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding.

Additional gene information for LRRFIP2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRFIP2 Gene

Genomics for LRRFIP2 Gene

GeneHancer (GH) Regulatory Elements for LRRFIP2 Gene

Promoters and enhancers for LRRFIP2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I037173 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 616.1 +7.8 7821 4.8 PKNOX1 SMAD1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 LRRFIP2 GC03P037179 UBE2FP1 RNU6-1301P RPS16P4 MLH1 C3orf35 DCLK3 TRANK1 GC03P036930
GH03I037181 Enhancer 1.1 Ensembl ENCODE dbSUPER 614.2 +0.3 341 4 NCOA3 CLOCK JUN ZFHX2 CTBP1 POLR2A FOSL2 FOS EGR2 SMARCE1 LRRFIP2 ENSG00000271993 EPM2AIP1 MLH1 GC03P037179 GC03P036930
GH03I036988 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 73.3 +192.2 192157 7.1 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 SP3 NFYC SSRP1 MLH1 EPM2AIP1 TRANK1 LRRFIP2 ENSG00000272334 RPS16P4 GC03P036930
GH03I036957 Enhancer 1.5 FANTOM5 Ensembl ENCODE 70.5 +225.5 225477 2 HDGF PKNOX1 SMAD1 ARNT ARID4B YY1 ZNF766 CBX5 E2F8 ZNF143 LRRFIP2 C3orf35 EPM2AIP1 ENSG00000272334 RPL29P11 MLH1 GC03M036968 RNU6ATAC4P GC03P036930 TRANK1
GH03I037216 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 72.7 -34.2 -34150 3.3 ELF3 ARID4B DMAP1 RAD21 ZNF48 RARA ZNF280A THAP11 MIXL1 KLF11 ENSG00000271653 LRRFIP2 RPS16P4 GOLGA4 GC03P036930
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LRRFIP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LRRFIP2 gene promoter:

Genomic Locations for LRRFIP2 Gene

Genomic Locations for LRRFIP2 Gene
131,064 bases
Minus strand

Genomic View for LRRFIP2 Gene

Genes around LRRFIP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRFIP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRFIP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRFIP2 Gene

Proteins for LRRFIP2 Gene

  • Protein details for LRRFIP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Leucine-rich repeat flightless-interacting protein 2
    Protein Accession:
    Secondary Accessions:
    • A8K649
    • A8MXR0
    • B4DY63
    • Q68CV3
    • Q9NXH5

    Protein attributes for LRRFIP2 Gene

    721 amino acids
    Molecular mass:
    82171 Da
    Quaternary structure:
    • Interacts (via N-terminus) with DVL3. Interacts with FLII. Weakly interacts with MYD88 in resting cells. Following LPS-stimulation, the interaction with MYD88 is rapidly enhanced; the complex gradually dissociates to basal levels after 6 hours of stimulation. Interaction with MYD88 is regulated by LPS-induced phosphorylation at Ser-202. In the presence of LPS, competes with FLII for MYD88-binding.

    Alternative splice isoforms for LRRFIP2 Gene


neXtProt entry for LRRFIP2 Gene

Post-translational modifications for LRRFIP2 Gene

  • Ser-190 and Ser-202 are phosphorylated in response to LPS stimulation. Ser-202 phosphorylation regulates the LPS-induced interaction with MYD88.

No data available for DME Specific Peptides for LRRFIP2 Gene

Domains & Families for LRRFIP2 Gene

Gene Families for LRRFIP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for LRRFIP2 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the LRRFIP family.
  • Belongs to the LRRFIP family.
genes like me logo Genes that share domains with LRRFIP2: view

Function for LRRFIP2 Gene

Molecular function for LRRFIP2 Gene

GENATLAS Biochemistry:
leucine rich repeat in FLII interacting protein 2,with specific alternatively spliced transcripts,mainly expressed in heart and skeletal muscle
UniProtKB/Swiss-Prot Function:
May function as activator of the canonical Wnt signaling pathway, in association with DVL3, upstream of CTNNB1/beta-catenin. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding.

Phenotypes From GWAS Catalog for LRRFIP2 Gene

Gene Ontology (GO) - Molecular Function for LRRFIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15677333
GO:0030275 LRR domain binding IPI 10366446
genes like me logo Genes that share ontologies with LRRFIP2: view
genes like me logo Genes that share phenotypes with LRRFIP2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LRRFIP2 Gene

Localization for LRRFIP2 Gene

Subcellular locations from

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 LRRFIP2 gene
Compartment Confidence
nucleus 3
plasma membrane 2
cytoskeleton 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRRFIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with LRRFIP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for LRRFIP2 Gene

Pathways & Interactions for LRRFIP2 Gene

SuperPathways for LRRFIP2 Gene

No Data Available

SIGNOR curated interactions for LRRFIP2 Gene


Gene Ontology (GO) - Biological Process for LRRFIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008150 biological_process ND --
GO:0016055 Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with LRRFIP2: view

No data available for Pathways by source for LRRFIP2 Gene

Drugs & Compounds for LRRFIP2 Gene

No Compound Related Data Available

Transcripts for LRRFIP2 Gene

Unigene Clusters for LRRFIP2 Gene

Leucine rich repeat (in FLII) interacting protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRFIP2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - - - - - - - - - -
SP2: - -
SP3: - - - - - - -
SP4: - - - - - - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: - -
SP10: - - -
SP12: - - -
SP15: - -

ExUns: 19a · 19b ^ 20a · 20b · 20c · 20d ^ 21a · 21b
SP1: -
SP2: -
SP5: -
SP14: - - -

Relevant External Links for LRRFIP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LRRFIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRRFIP2 Gene

Protein differential expression in normal tissues from HIPED for LRRFIP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.1), Platelet (12.6), and Bone marrow stromal cell (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LRRFIP2 Gene

Protein tissue co-expression partners for LRRFIP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of LRRFIP2 Gene:


SOURCE GeneReport for Unigene cluster for LRRFIP2 Gene:


mRNA Expression by UniProt/SwissProt for LRRFIP2 Gene:

Tissue specificity: Widely expressed, with highest levels in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for LRRFIP2 Gene

  • Intestine(4.3)
  • Liver(4.3)
  • Muscle(4.3)
  • Skin(4.3)
  • Blood(4.2)
  • Nervous system(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRFIP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • reproductive
  • urinary
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
  • anus
  • ovary
  • rectum
  • uterus
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with LRRFIP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LRRFIP2 Gene

Orthologs for LRRFIP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRRFIP2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LRRFIP2 33 34
  • 99.72 (n)
(Mus musculus)
Mammalia Lrrfip2 34
  • 95 (a)
(Bos Taurus)
Mammalia LRRFIP2 34
  • 92 (a)
(Canis familiaris)
Mammalia LRRFIP2 33 34
  • 91.45 (n)
(Monodelphis domestica)
Mammalia LRRFIP2 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia LRRFIP2 34
  • 78 (a)
(Gallus gallus)
Aves LRRFIP2 33 34
  • 78.6 (n)
(Anolis carolinensis)
Reptilia LRRFIP2 34
  • 78 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3053 33
(Danio rerio)
Actinopterygii lrrfip2 33 34
  • 66 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12212 33
fruit fly
(Drosophila melanogaster)
Insecta CG8578 34
  • 43 (a)
(Caenorhabditis elegans)
Secernentea flap-1 34
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5234 34
  • 63 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1985 33
Species where no ortholog for LRRFIP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for LRRFIP2 Gene

Gene Tree for LRRFIP2 (if available)
Gene Tree for LRRFIP2 (if available)

Paralogs for LRRFIP2 Gene

Paralogs for LRRFIP2 Gene

(1) SIMAP similar genes for LRRFIP2 Gene using alignment to 8 proteins: Pseudogenes for LRRFIP2 Gene

genes like me logo Genes that share paralogs with LRRFIP2: view

Variants for LRRFIP2 Gene

Sequence variations from dbSNP and Humsavar for LRRFIP2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs10849 benign, Lynch syndrome 37,053,579(-) C/G/T 3_prime_UTR_variant, non_coding_transcript_variant
rs386352387 uncertain-significance, not provided 37,148,893(-) C/G/T splice_donor_variant
rs1000030720 -- 37,160,509(-) G/A intron_variant
rs1000037309 -- 37,154,461(-) A/T intron_variant
rs1000043291 -- 37,136,016(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LRRFIP2 Gene

Variant ID Type Subtype PubMed ID
nsv965157 CNV duplication 23825009
nsv834664 CNV loss 17160897
nsv834663 CNV loss 17160897
nsv1123640 CNV deletion 24896259
esv3595883 CNV gain 21293372
esv3595882 CNV gain 21293372
esv3595880 CNV gain 21293372
esv2675597 CNV deletion 23128226

Variation tolerance for LRRFIP2 Gene

Residual Variation Intolerance Score: 52.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.23; 62.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRFIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRFIP2 Gene

Disorders for LRRFIP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LRRFIP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lynch syndrome
  • coca 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LRRFIP2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LRRFIP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRFIP2 Gene

Publications for LRRFIP2 Gene

  1. Novel proteins interacting with the leucine-rich repeat domain of human flightless-I identified by the yeast two-hybrid system. (PMID: 10366446) Fong KS … de Couet HG (Genomics 1999) 2 3 4 58
  2. Unambiguous characterization of site-specific phosphorylation of leucine-rich repeat Fli-I-interacting protein 2 (LRRFIP2) in Toll-like receptor 4 (TLR4)-mediated signaling. (PMID: 21220426) Gunawardena HP … Chen X (The Journal of biological chemistry 2011) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Modulation of TLR signaling by multiple MyD88-interacting partners including leucine-rich repeat Fli-I-interacting proteins. (PMID: 19265123) Dai P … Chen X (Journal of immunology (Baltimore, Md. : 1950) 2009) 3 4 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for LRRFIP2 Gene

Sources for LRRFIP2 Gene

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