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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. 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.

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

Regulatory Elements for LRRFIP2 Gene

Enhancers for LRRFIP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G036957 1.7 FANTOM5 Ensembl ENCODE 70.5 +225.5 225478 2.0 HDGF PKNOX1 ARNT ARID4B YY1 ZNF766 CBX5 ZNF143 FOS JUNB LRRFIP2 EPM2AIP1 RPL29P11 MLH1 GC03M036968 RNU6ATAC4P GC03P036930
GH03G037173 1.7 FANTOM5 ENCODE dbSUPER 66.1 +7.8 7822 4.8 HNRNPUL1 PKNOX1 FOXA2 CREB3L1 AGO1 ZFP64 SIN3A ARID4B FEZF1 DMAP1 LRRFIP2 UBE2FP1 RNU6-1301P RPS16P4 MLH1 C3orf35 DCLK3 TRANK1 GC03P037179
GH03G037129 1.4 Ensembl ENCODE dbSUPER 76.4 +52.5 52487 4.3 HDAC1 ATF1 PKNOX1 BMI1 RAD21 ZBTB40 CBX5 GATA2 RELB FOS LRRFIP2 RPS16P4 UBE2D3P2 ENSG00000206645 GC03M037093
GH03G036988 1.4 ENCODE dbSUPER 73.3 +192.2 192158 7.1 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC SSRP1 ZNF610 LRRFIP2 ENSG00000272334 RPS16P4 MLH1 TRANK1 EPM2AIP1
GH03G037216 1.4 FANTOM5 ENCODE dbSUPER 72.7 -34.2 -34150 3.3 ELF3 TBP CBX3 ARID4B DMAP1 RAD21 ZNF48 RARA MIXL1 THAP11 LRRFIP2 RPS16P4 GOLGA4 ENSG00000271653
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LRRFIP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for LRRFIP2 Gene

Chromosome:
3
Start:
37,052,626 bp from pter
End:
37,183,689 bp from pter
Size:
131,064 bases
Orientation:
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:
    Q9Y608-LRRF2_HUMAN
    Recommended name:
    Leucine-rich repeat flightless-interacting protein 2
    Protein Accession:
    Q9Y608
    Secondary Accessions:
    • A8K649
    • A8MXR0
    • B4DY63
    • Q68CV3
    • Q9NXH5

    Protein attributes for LRRFIP2 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LRRFIP2 Gene

Domains & Families for LRRFIP2 Gene

Protein Domains for LRRFIP2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9Y608

UniProtKB/Swiss-Prot:

LRRF2_HUMAN :
  • Belongs to the LRRFIP family.
Family:
  • Belongs to the LRRFIP family.
genes like me logo Genes that share domains with LRRFIP2: view

No data available for Gene Families for LRRFIP2 Gene

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.

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

CRISPR Products

Inhibitory RNA 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

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

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

Activates:

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:

CRISPR Products

Inhibitory RNA Products

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: - - - - - - - - - -
SP5:
SP6: - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: - -
SP10: - - -
SP11:
SP12: - - -
SP13:
SP14:
SP15: - -

ExUns: 19a · 19b ^ 20a · 20b · 20c · 20d ^ 21a · 21b
SP1: -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - -
SP15:

Relevant External Links for LRRFIP2 Gene

GeneLoc Exon Structure for
LRRFIP2
ECgene alternative splicing isoforms for
LRRFIP2

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:

LRRFIP2

SOURCE GeneReport for Unigene cluster for LRRFIP2 Gene:

Hs.740522

mRNA Expression by UniProt/SwissProt for LRRFIP2 Gene:

Q9Y608-LRRF2_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • reproductive
  • urinary
Organs:
Abdomen:
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • ovary
  • rectum
  • uterus
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with LRRFIP2: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia LRRFIP2 34 35
  • 99.72 (n)
mouse
(Mus musculus)
Mammalia Lrrfip2 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRRFIP2 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRRFIP2 35 34
  • 91.45 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRRFIP2 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRFIP2 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRFIP2 34 35
  • 78.6 (n)
lizard
(Anolis carolinensis)
Reptilia LRRFIP2 35
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3053 34
zebrafish
(Danio rerio)
Actinopterygii lrrfip2 34 35
  • 66 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12212 34
fruit fly
(Drosophila melanogaster)
Insecta CG8578 35
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea flap-1 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5234 35
  • 63 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1985 34
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

ENSEMBL:
Gene Tree for LRRFIP2 (if available)
TreeFam:
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.org 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 Sequence Context AA Info Type
rs386352387 Uncertain significance 37,148,893(-) GAGAG(C/G)TATGT splice-donor-variant
rs10849 Benign 37,053,579(-) TCAAC(A/C/G)TTTTT nc-transcript-variant, utr-variant-3-prime
rs1000030720 -- 37,160,509(+) GCGCA(A/G)TGTCT intron-variant
rs1000037309 -- 37,154,461(+) CTTCC(A/T)GTGTT intron-variant
rs1000043291 -- 37,136,016(+) AATAG(C/T)CAAAA intron-variant

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

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

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)

Relevant External Links for LRRFIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRFIP2

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

Relevant External Links for LRRFIP2

Genetic Association Database (GAD)
LRRFIP2
Human Genome Epidemiology (HuGE) Navigator
LRRFIP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRRFIP2
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 K.S.K. … de Couet H.G. (Genomics 1999) 2 3 4 64
  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 H.P. … Chen X. (J. Biol. Chem. 2011) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Modulation of TLR signaling by multiple MyD88-interacting partners including leucine-rich repeat Fli-I-interacting proteins. (PMID: 19265123) Dai P. … Chen X. (J. Immunol. 2009) 3 4 64
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64

Products for LRRFIP2 Gene

Sources for LRRFIP2 Gene

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