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Aliases for LRRFIP2 Gene

Aliases for LRRFIP2 Gene

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

GeneCards Summary for LRRFIP2 Gene

LRRFIP2 (Leucine Rich Repeat (In 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 Entrez Gene 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

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

Proteomics data for LRRFIP2 Gene at MOPED

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

Antibody Products

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
genes like me logo Genes that share ontologies with LRRFIP2: view
genes like me logo Genes that share phenotypes with LRRFIP2: view

Human Phenotype Ontology for LRRFIP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Localization for LRRFIP2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRRFIP2 Gene COMPARTMENTS Subcellular localization image for LRRFIP2 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
plasma membrane 2
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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: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

Flow Cytometry 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 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, MOPED, and MaxQB for LRRFIP2 Gene



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.
genes like me logo Genes that share expression patterns with LRRFIP2: view

Protein tissue co-expression partners for LRRFIP2 Gene

Primer Products

In Situ Assay 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 35
  • 99.72 (n)
  • 99.58 (a)
LRRFIP2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRRFIP2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRRFIP2 36
  • 92 (a)
OneToOne
LRRFIP2 35
  • 91.45 (n)
  • 92.51 (a)
mouse
(Mus musculus)
Mammalia Lrrfip2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRRFIP2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRFIP2 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRFIP2 36
  • 79 (a)
OneToOne
LRRFIP2 35
  • 78.6 (n)
  • 80.38 (a)
lizard
(Anolis carolinensis)
Reptilia LRRFIP2 36
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3053 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12212 35
zebrafish
(Danio rerio)
Actinopterygii lrrfip2 36
  • 66 (a)
OneToOne
lrrfip2 35
fruit fly
(Drosophila melanogaster)
Insecta CG8578 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea flap-1 36
  • 32 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1985 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5234 36
  • 63 (a)
OneToMany
Species with no ortholog for LRRFIP2:
  • 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
rs34902788 - 37,112,926(+) GTCTT(C/T)ATGAG intron-variant, reference, missense
rs11596 -- 37,142,905(+) atcat(A/G)ttgag intron-variant
rs374951 -- 37,160,120(+) CAGGA(C/T)ACCAG intron-variant
rs336595 -- 37,121,548(+) AAAAT(A/G)AAAAT intron-variant
rs336596 -- 37,132,668(+) ATGGA(C/T)AAGCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834663 CNV Loss 17160897
nsv834664 CNV Loss 17160897
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)

Relevant External Links for LRRFIP2 Gene

HapMap Linkage Disequilibrium report
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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. The P-body component USP52/PAN2 is a novel regulator of HIF1A mRNA stability. (PMID: 23398456) Bett J.S. … Hay R.T. (Biochem. J. 2013) 3

Products for LRRFIP2 Gene

Sources for LRRFIP2 Gene

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