Gene Gene information from NCBI Gene database.
Entrez ID 23048
Gene name Formin binding protein 1
Gene symbol FNBP1
Synonyms (NCBI Gene)
FBP17
Chromosome 9
Chromosome location 9q34.11
Summary The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil
miRNA miRNA information provided by mirtarbase database.
611
miRTarBase ID miRNA Experiments Reference
MIRT021456 hsa-miR-9-5p Microarray 17612493
MIRT022054 hsa-miR-128-3p Microarray 17612493
MIRT026653 hsa-miR-192-5p Microarray 19074876
MIRT030906 hsa-miR-21-5p Microarray 18591254
MIRT051078 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11438682, 14596906, 15252009, 16318909, 20562859, 26751515, 35271311
GO:0005737 Component Cytoplasm IEA
GO:0005764 Component Lysosome IEA
GO:0005829 Component Cytosol TAS
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606191 17069 ENSG00000187239
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96RU3
Protein name Formin-binding protein 1 (Formin-binding protein 17) (hFBP17)
Protein function May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. B
PDB 2EFL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00611 FCH 10 89 Fes/CIP4, and EFC/F-BAR homology domain Family
PF14604 SH3_9 557 607 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Very highly expressed in the epithelial cells of the gastrointestinal tract, respiratory, reproductive and urinary systems. Also highly expressed in brown adipose tissue, cardiomyocytes, enteric ganglia and glucagon producing cells of
Sequence
MSWGTELWDQFDNLEKHTQWGIDILEKYIKFVKERTEIELSYAKQLRNLSKKYQPKKNSK
EEEEYKYTSCKAFISNLNEMNDYAGQHEV
ISENMASQIIVDLARYVQELKQERKSNFHDG
RKAQQHIETCWKQLESSKRRFERDCKEADRAQQYFEKMDADINVTKADVEKARQQAQIRH
QMAEDSKADYSSILQKFNHEQHEYYHTHIPNIFQKIQEMEERRIVRMGESMKTYAEVDRQ
VIPIIGKCLDGIVKAAESIDQKNDSQLVIEAYKSGFEPPGDIEFEDYTQPMKRTVSDNSL
SNSRGEGKPDLKFGGKSKGKLWPFIKKNKLMSLLTSPHQPPPPPPASASPSAVPNGPQSP
KQQKEPLSHRFNEFMTSKPKIHCFRSLKRGLSLKLGATPEDFSNLPPEQRRKKLQQKVDE
LNKEIQKEMDQRDAITKMKDVYLKNPQMGDPASLDHKLAEVSQNIEKLRVETQKFEAWLA
EVEGRLPARSEQARRQSGLYDSQNPPTVNNCAQDRESPDGSYTEEQSQESEMKVLATDFD
DEFDDEEPLPAIGTCKALYTFEGQNEGTISVVEGETLYVIEEDKGDGWTRIRRNEDEEGY
VPTSYVE
VCLDKNAKDS
Sequence length 617
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Shigellosis   Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE 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
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26301688
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 Autoimmune Diseases GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 Autoimmune Diseases GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only
Autoimmune thyroiditis Autoimmune Thyroiditis GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32665637 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34998385 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Ductal carcinoma Pubtator 32665637 Associate
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease GWASCAT_DG 26301688
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Colorectal neoplasm Pubtator 37446311 Associate
★☆☆☆☆
Found in Text Mining only