Human Gene LRRFIP2 (ENST00000354379.8) from GENCODE V44
  Description: Homo sapiens LRR binding FLII interacting protein 2 (LRRFIP2), transcript variant 2, mRNA. (from RefSeq NM_017724)
RefSeq Summary (NM_017724): 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].
Gencode Transcript: ENST00000354379.8
Gencode Gene: ENSG00000093167.18
Transcript (Including UTRs)
   Position: hg38 chr3:37,052,656-37,176,360 Size: 123,705 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chr3:37,053,851-37,148,983 Size: 95,133 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 09:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr3:37,052,656-37,176,360)mRNA (may differ from genome)Protein (400 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Leucine-rich repeat flightless-interacting protein 2; Short=LRR FLII-interacting protein 2;
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.
SUBUNIT: 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.
INTERACTION: Q92997:DVL3; NbExp=2; IntAct=EBI-1023718, EBI-739789;
TISSUE SPECIFICITY: Widely expressed, with highest levels in heart and skeletal muscle.
PTM: Ser-190 and Ser-202 are phosphorylated in response to LPS stimulation. Ser-202 phosphorylation regulates the LPS-induced interaction with MYD88.
SIMILARITY: Belongs to the LRRFIP family.

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: LRRFIP2
Diseases sorted by gene-association score: lynch syndrome (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.89 RPKM in Testis
Total median expression: 548.61 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -163.70423-0.387 Picture PostScript Text
3' UTR -301.601195-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019139 - Leu-rich_rep_flightless-int_pr

Pfam Domains:
PF09738 - LRRFIP family

ModBase Predicted Comparative 3D Structure on Q9Y608
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0030275 LRR domain binding

Biological Process:
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0008150 biological_process
GO:0016055 Wnt signaling pathway

Cellular Component:
GO:0005575 cellular_component

-  Descriptions from all associated GenBank mRNAs
  LF208653 - JP 2014500723-A/16156: Polycomb-Associated Non-Coding RNAs.
MA444230 - JP 2018138019-A/16156: Polycomb-Associated Non-Coding RNAs.
KX533489 - Homo sapiens leucine-rich repeat flightless-interacting protein 2 (LRRFIP2) mRNA, complete cds.
BX648794 - Homo sapiens mRNA; cDNA DKFZp686N06143 (from clone DKFZp686N06143).
AK000255 - Homo sapiens cDNA FLJ20248 fis, clone COLF6543.
AK291514 - Homo sapiens cDNA FLJ75479 complete cds.
AF115509 - Homo sapiens LRR FLI-I interacting protein 2 (LRRFIP2) mRNA, complete cds.
BC017703 - Homo sapiens leucine rich repeat (in FLII) interacting protein 2, mRNA (cDNA clone IMAGE:4396900), **** WARNING: chimeric clone ****.
BC053668 - Homo sapiens leucine rich repeat (in FLII) interacting protein 2, mRNA (cDNA clone MGC:61455 IMAGE:6146978), complete cds.
AK302282 - Homo sapiens cDNA FLJ58304 complete cds, moderately similar to Leucine-rich repeat flightless-interacting protein 2.
AK024692 - Homo sapiens cDNA: FLJ21039 fis, clone CAE10636, highly similar to AF115509 Homo sapiens LRR FLI-I interacting protein 2 (LRRFIP2) mRNA.
AK026336 - Homo sapiens cDNA: FLJ22683 fis, clone HSI10817.
CR749705 - Homo sapiens mRNA; cDNA DKFZp434H2035 (from clone DKFZp434H2035).
JD036795 - Sequence 17819 from Patent EP1572962.
JD232250 - Sequence 213274 from Patent EP1572962.
JD450606 - Sequence 431630 from Patent EP1572962.
JD327981 - Sequence 309005 from Patent EP1572962.
JD540748 - Sequence 521772 from Patent EP1572962.
JD177855 - Sequence 158879 from Patent EP1572962.
JD052579 - Sequence 33603 from Patent EP1572962.
AK098184 - Homo sapiens cDNA FLJ40865 fis, clone TRACH2018646.
AK124432 - Homo sapiens cDNA FLJ42441 fis, clone BLADE2008398, highly similar to Homo sapiens LRR FLI-I interacting protein 2 (LRRFIP2) mRNA.
LF378740 - JP 2014500723-A/186243: Polycomb-Associated Non-Coding RNAs.
MA614317 - JP 2018138019-A/186243: Polycomb-Associated Non-Coding RNAs.
JD506761 - Sequence 487785 from Patent EP1572962.
JD224846 - Sequence 205870 from Patent EP1572962.
LF378739 - JP 2014500723-A/186242: Polycomb-Associated Non-Coding RNAs.
MA614316 - JP 2018138019-A/186242: Polycomb-Associated Non-Coding RNAs.
LF378732 - JP 2014500723-A/186235: Polycomb-Associated Non-Coding RNAs.
MA614309 - JP 2018138019-A/186235: Polycomb-Associated Non-Coding RNAs.
LF378711 - JP 2014500723-A/186214: Polycomb-Associated Non-Coding RNAs.
MA614288 - JP 2018138019-A/186214: Polycomb-Associated Non-Coding RNAs.
LF378705 - JP 2014500723-A/186208: Polycomb-Associated Non-Coding RNAs.
MA614282 - JP 2018138019-A/186208: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K649, ENST00000354379.1, ENST00000354379.2, ENST00000354379.3, ENST00000354379.4, ENST00000354379.5, ENST00000354379.6, ENST00000354379.7, LRRF2_HUMAN, NM_017724, Q68CV3, Q9NXH5, Q9Y608, uc003cgt.1, uc003cgt.2, uc003cgt.3, uc003cgt.4
UCSC ID: ENST00000354379.8
RefSeq Accession: NM_017724
Protein: Q9Y608 (aka LRRF2_HUMAN)
CCDS: CCDS2665.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.