Gene Gene information from NCBI Gene database.
Entrez ID 114793
Gene name Formin like 2
Gene symbol FMNL2
Synonyms (NCBI Gene)
FHOD2
Chromosome 2
Chromosome location 2q23.3
Summary This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length natu
miRNA miRNA information provided by mirtarbase database.
227
miRTarBase ID miRNA Experiments Reference
MIRT001547 hsa-miR-155-5p pSILAC 18668040
MIRT001547 hsa-miR-155-5p Proteomics;Other 18668040
MIRT022700 hsa-miR-124-3p Microarray 18668037
MIRT023863 hsa-miR-1-3p Proteomics 18668040
MIRT027997 hsa-miR-93-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol TAS
GO:0007010 Process Cytoskeleton organization IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616285 18267 ENSG00000157827
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96PY5
Protein name Formin-like protein 2 (Formin homology 2 domain-containing protein 2)
Protein function Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics.
PDB 4YC7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06371 Drf_GBD 23 159 Diaphanous GTPase-binding Domain Family
PF06371 Drf_GBD 202 275 Diaphanous GTPase-binding Domain Family
PF06367 Drf_FH3 278 475 Diaphanous FH3 Domain Family
PF02181 FH2 616 982 Formin Homology 2 Domain Family
Sequence
MGNAGSMDSQQTDFRAHNVPLKLPMPEPGELEERFAIVLNAMNLPPDKARLLRQYDNEKK
WELICDQERFQVKNPPHTYIQKLKGYLDPAVTRKKFRRRVQESTQVLRELEISLRTNHIG
WVREFLNEENKGLDVLVEYLSFAQYAVTFDFESVESTVE
SSVDKSKPWSRSIEDLHRGSN
LPSPVGNSVSRSGRHSALRYNTLPSRRTLKNSRLVSKKDDVHVCIMCLRAIMNYQYGFNM
VMSHPHAVNEIALSLNNKNPRTKALVLELLAAVCL
VRGGHEIILSAFDNFKEVCGEKQRF
EKLMEHFRNEDNNIDFMVASMQFINIVVHSVEDMNFRVHLQYEFTKLGLDEYLDKLKHTE
SDKLQVQIQAYLDNVFDVGALLEDAETKNAALERVEELEENISHLSEKLQDTENEAMSKI
VELEKQLMQRNKELDVVREIYKDANTQVHTLRKMVKEKEEAIQRQSTLEKKIHEL
EKQGT
IKIQKKGDGDIAILPVVASGTLSMGSEVVAGNSVGPTMGAASSGPLPPPPPPLPPSSDTP
ETVQNGPVTPPMPPPPPPPPPPPPPPPPPPPPPLPGPAAETVPAPPLAPPLPSAPPLPGT
SSPTVVFNSGLAAVKIKKPIKTKFRMPVFNWVALKPNQINGTVFNEIDDERILEDLNVDE
FEEIFKTKAQGPAIDLSSSKQKIPQKGSNKVTLLEANRAKNLAITLRKAGKTADEICKAI
HVFDLKTLPVDFVECLMRFLPTENEVKVLRLYERERKPLENLSDEDRFMMQFSKIERLMQ
KMTIMAFIGNFAESIQMLTPQLHAIIAASVSIKSSQKLKKILEIILALGNYMNSSKRGAV
YGFKLQSLDLLLDTKSTDRKQTLLHYISNVVKEKYHQVSLFYNELHYVEKAAAVSLENVL
LDVKELQRGMDLTKREYTMHDHNTLLKEFILNNEGKLKKLQDDAKIAQDAFDDVVKYFGE
NPKTTPPSVFFPVFVRFVKAYK
QAEEENELRKKQEQALMEKLLEQEALMEQQDPKSPSHK
SKRQQQELIAELRRRQVKDNRHVYEGKDGAIEDIITVLKTVPFTARTAKRGSRFFCEPVL
TEEYHY
Sequence length 1086
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytoskeleton in muscle cells   RHO GTPases Activate Formins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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
Crohn disease Likely pathogenic rs1695370663 RCV001293352
★★★★☆
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA 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
Breast Neoplasms Breast neoplasm Pubtator 34193109, 36124068 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 27906963
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke GWASDB_DG 22384361
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 18665374, 21071512, 21506128, 23201162, 26103003, 26258642, 26515696, 28817833, 30594388
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 21071512, 26258642, 27058418, 30594388 Associate
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma BEFREE 29891935
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glaucoma Glaucoma GWASCAT_DG 30054594
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glaucoma Open Angle Open angle glaucoma Pubtator 33726755 Associate
★☆☆☆☆
Found in Text Mining only
Glaucoma, Open-Angle Glaucoma GWASCAT_DG 29891935
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 36335129 Associate
★☆☆☆☆
Found in Text Mining only