Gene Gene information from NCBI Gene database.
Entrez ID 2314
Gene name FLII actin remodeling protein
Gene symbol FLII
Synonyms (NCBI Gene)
CMD2JFLIFLILFli1
Chromosome 17
Chromosome location 17p11.2
Summary This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization
miRNA miRNA information provided by mirtarbase database.
117
miRTarBase ID miRNA Experiments Reference
MIRT022789 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT052017 hsa-let-7b-5p CLASH 23622248
MIRT048726 hsa-miR-96-5p CLASH 23622248
MIRT043515 hsa-miR-331-3p CLASH 23622248
MIRT042489 hsa-miR-423-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0002102 Component Podosome IEA
GO:0002102 Component Podosome ISS
GO:0003779 Function Actin binding IDA 9525888
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 9671805, 10366446, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600362 3750 ENSG00000177731
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13045
Protein name Protein flightless-1 homolog
Protein function Is a regulator of actin polymerization, required for proper myofibril organization and regulation of the length of sarcomeric thin filaments (By similarity). It also plays a role in the assembly of cardiomyocyte cell adhesion complexes (By simil
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 33 91 Leucine rich repeat Repeat
PF13855 LRR_8 127 186 Leucine rich repeat Repeat
PF00626 Gelsolin 508 591 Gelsolin repeat Domain
PF00626 Gelsolin 628 703 Gelsolin repeat Domain
PF00626 Gelsolin 756 832 Gelsolin repeat Domain
PF00626 Gelsolin 1177 1255 Gelsolin repeat Domain
Tissue specificity TISSUE SPECIFICITY: Strongest expression in skeletal muscle with high expression also in the heart and lung. {ECO:0000269|PubMed:9525888}.
Sequence
MEATGVLPFVRGVDLSGNDFKGGYFPENVKAMTSLRWLKLNRTGLCYLPEELAALQKLEH
LSVSHNNLTTLHGELSSLPSLRAIVARANSL
KNSGVPDDIFKLDDLSVLDLSHNQLTECP
RELENAKNMLVLNLSHNSIDTIPNQLFINLTDLLYLDLSENRLESLPPQMRRLVHLQTLV
LNGNPL
LHAQLRQLPAMTALQTLHLRSTQRTQSNLPTSLEGLSNLADVDLSCNDLTRVPE
CLYTLPSLRRLNLSSNQITELSLCIDQWVHVETLNLSRNQLTSLPSAICKLSKLKKLYLN
SNKLDFDGLPSGIGKLTNLEEFMAANNNLELVPESLCRCPKLRKLVLNKNHLVTLPEAIH
FLTEIEVLDVRENPNLVMPPKPADRAAEWYNIDFSLQNQLRLAGASPATVAAAAAAGSGP
KDPMARKMRLRRRKDSAQDDQAKQVLKGMSDVAQEKNKKQEESADARAPSGKVRRWDQGL
EKPRLDYSEFFTEDVGQLPGLTIWQIENFVPVLVEEAFHGKFYEADCYIVLKTFLDDSGS
LNWEIYYWIGGEATLDKKACSAIHAVNLRNYLGAECRTVREEMGDESEEFL
QVFDNDISY
IEGGTASGFYTVEDTHYVTRMYRVYGKKNIKLEPVPLKGTSLDPRFVFLLDRGLDIYVWR
GAQATLSSTTKARLFAEKINKNERKGKAEITLLVQGQELPEFW
EALGGEPSEIKKHVPED
FWPPQPKLYKVGLGLGYLELPQINYKLSVEHKQRPKVELMPRMRLLQSLLDTRCVYILDC
WSDVFIWLGRKSPRLVRAAALKLGQELCGMLHRPRHATVSRSLEGTEAQVFK
AKFKNWDD
VLTVDYTRNAEAVLQSPGLSGKVKRDAEKKDQMKADLTALFLPRQPPMSLAEAEQLMEEW
NEDLDGMEGFVLEGKKFARLPEEEFGHFYTQDCYVFLCRYWVPVEYEEEEKKEDKEEKAE
GKEGEEATAEAEEKQPEEDFQCIVYFWQGREASNMGWLTFTFSLQKKFESLFPGKLEVVR
MTQQQENPKFLSHFKRKFIIHRGKRKAVQGAQQPSLYQIRTNGSALCTRCIQINTDSSLL
NSEFCFILKVPFESEDNQGIVYAWVGRASDPDEAKLAEDILNTMFDTSYSKQVINEGEEP
ENFFWVGIGAQKPYDDDAEYMKHTRLFRCSNEKGYFAVTEKCSDFCQDDLADDDIMLLDN
GQEVYMWVGTQTSQVEIKLSLKACQVYIQHMRSKEHERPRRLRLVRKGNEQHAFT
RCFHA
WSAFCKALA
Sequence length 1269
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiomyopathy, dilated, 2j Likely pathogenic; Pathogenic rs563225941, rs2048273930, rs377064036 RCV003445157
RCV003444172
RCV003444173
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy Likely pathogenic rs563225941 RCV002273051
★★★★☆
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
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
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
5q-syndrome 5q-syndrome BEFREE 22965552
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 10981960, 11175363, 11175364, 12894591, 12946994, 1394211, 14570912, 15592502, 19282832, 20445019, 23677281, 24909161, 28586009, 29990873, 7503813
View all (6 more)
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 23667468
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 23926301
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma CTD_human_DG 19270706
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma BEFREE 23185447
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma BEFREE 30285997
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anemia, Diamond-Blackfan Anemia BEFREE 22965552
★☆☆☆☆
Found in Text Mining only