Gene Gene information from NCBI Gene database.
Entrez ID 9209
Gene name LRR binding FLII interacting protein 2
Gene symbol LRRFIP2
Synonyms (NCBI Gene)
HUFI-2
Chromosome 3
Chromosome location 3p22.2
Summary 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 prote
miRNA miRNA information provided by mirtarbase database.
232
miRTarBase ID miRNA Experiments Reference
MIRT022838 hsa-miR-124-3p Microarray 18668037
MIRT024927 hsa-miR-215-5p Microarray 19074876
MIRT026617 hsa-miR-192-5p Microarray 19074876
MIRT547552 hsa-miR-15b-5p PAR-CLIP 20371350
MIRT547551 hsa-miR-16-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10366446, 15677333, 25416956, 25910212, 31515488, 33961781
GO:0006355 Process Regulation of DNA-templated transcription IEA
GO:0016055 Process Wnt signaling pathway IEA
GO:0030275 Function LRR domain binding IPI 10366446
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614043 6703 ENSG00000093167
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y608
Protein name Leucine-rich repeat flightless-interacting protein 2 (LRR FLII-interacting protein 2)
Protein 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 F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09738 LRRFIP 31 145 LRRFIP family Family
PF09738 LRRFIP 290 460 LRRFIP family Family
PF09738 LRRFIP 457 646 LRRFIP family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in heart and skeletal muscle. {ECO:0000269|PubMed:10366446}.
Sequence
MGTPASGRKRTPVKDRFSAEDEALSNIAREAEARLAAKRAARAEARDIRMRELERQQKEY
SLHSFDRKWGQIQKWLEDSERARYSHRSSHHRPYLGVEDALSIRSVGSHRYDMFKDRSSR
LSSLNHSYSHSHGMKKRSSDSHKDL
LSGLYFDQRNYSSLRHSKPTSAYYTRQSSSLYSDP
LATYKSDRASPTANSGLLRSASLASLYNGGLYNPYGPRTPSECSYYSSRISSARSSPGFT
NDDTASIVSSDRASRGRRESVVSAADYFSRSNRRGSVVSEVDDISIPDLSSLDEKSDKQY
AENYTRPSSRNSASATTPLSGNSSRRGSGDTSSLIDPDTSLSELRDIYDLKDQIQDVEGR
YMQGLKELKESLSEVEEKYKKAMVSNAQLDNEKNNLIYQVDTLKDVIEEQEEQMAEFYRE
NEEKSKELERQKHMCSVLQHKMEELKEGLRQRDELI
EEKQRMQQKIDTMTKEVFDLQETL
LWKDKKIGALEKQKEYIACLRNERDMLREELADLQETVKTGEKHGLVIIPDGTPNGDVSH
EPVAGAITVVSQEAAQVLESAGEGPLDVRLRKLAGEKEELLSQIRKLKLQLEEERQKCSR
NDGTVGDLAGLQNGSDLQFIEMQRDANRQISEYKFKLSKAEQDITT
LEQSISRLEGQVLR
YKTAAENAEKVEDELKAEKRKLQRELRTALDKIEEMEMTNSHLAKRLEKMKANRTALLAQ
Q
Sequence length 721
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Neoplasms Colorectal neoplasm Pubtator 23240038, 32828126 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis Lynch syndrome Pubtator 21712435, 21785361 Associate
★☆☆☆☆
Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer Colorectal Cancer BEFREE 21785361
★☆☆☆☆
Found in Text Mining only
Lynch Syndrome Lynch Syndrome BEFREE 21785361
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 19188145
★☆☆☆☆
Found in Text Mining only
Myotonic Dystrophy Myotonic dystrophy Pubtator 34371182 Associate
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 18353764 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 36307405 Associate
★☆☆☆☆
Found in Text Mining only