Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
342184
Gene name Gene Name - the full gene name approved by the HGNC.
Formin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FMN1
Synonyms (NCBI Gene) Gene synonyms aliases
FMN, LD
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively splice
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs201555719 C>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT636521 hsa-miR-1307-3p HITS-CLIP 23824327
MIRT636520 hsa-miR-4638-5p HITS-CLIP 23824327
MIRT636519 hsa-miR-6499-3p HITS-CLIP 23824327
MIRT636518 hsa-miR-3135b HITS-CLIP 23824327
MIRT636517 hsa-miR-504-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
136535 3768 ENSG00000248905
Protein
UniProt ID Q68DA7
Protein name Formin-1 (Limb deformity protein homolog)
Protein function Plays a role in the formation of adherens junction and the polymerization of linear actin cables.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02181 FH2 972 1363 Formin Homology 2 Domain Family
Sequence
MEGTHCTLQLHKPITELCYISFCLPKGEVRGFSYKGTVTLDRSNKGFHNCYQVREESDII
SLSQEPDEHPGDIFFKQTPTKDILTELYKLTTERERLLTNLLSSDHILGITMGNQEGKLQ
ELSVSLAPEDDCFQSAGDWQGELPVGPLNKRSTHGNKKPRRSSGRRESFGALPQKRTKRK
GRGGRESAPLMGKDKICSSHSLPLSRTRPNLWVLEEKGNLLPNGALACSLQRRESCPPDI
PKTPDTDLGFGSFETAFKDTGLGREVLPPDCSSTEAGGDGIRRPPSGLEHQQTGLSESHQ
DPEKHPEAEKDEMEKPAKRTCKQKPVSKVVAKVQDLSSQVQRVVKTHSKGKETIAIRPAA
HAEFVPKADLLTLPGAEAGAHGSRRQGKERQGDRSSQSPAGETASISSVSASAEGAVNKV
PLKVIESEKLDEAPEGKRLGFPVHTSVPHTRPETRNKRRAGLPLGGHKSLFLDLPHKVGP
DSSQPRGDKKKPSPPAPAALGKVFNNSASQSSTHKQTSPVPSPLSPRLPSPQQHHRILRL
PALPGEREAALNDSPCRKSRVFSGCVSADTLEPPSSAKVTETKGASPAFLRAGQPRLVPG
ETLEKSLGPGKTTAEPQHQSPPGISSEGFPWDGFNEQTPKDLPNRDGGAWVLGYRAGPAC
PFLLHEEREKSNRSELYLDLHPDHSLTEQDDRTPGRLQAVWPPPKTKDTEEKVGLKYTEA
EYQAAILHLKREHKEEIENLQAQFELRAFHIRGEHAMITARLEETIENLKHELEHRWRGG
CEERKDVCISTDDDCPPKTFRNVCVQTDRETFLKPCESESKTTRSNQLVPKKLNISSLSQ
LSPPNDHKDIHAALQPMEGMASNQQKALPPPPASIPPPPPLPSGLGSLSPAPPMPPVSAG
PPLPPPPPPPPPLPPPSSAGPPPPPPPPPLPNSPAPPNPGGPPPAPPPPGLAPPPPPGLF
FGLGSSSSQCPRKPAIEPSCPMKPLYWTRIQISDRSQNATPTLWDSLEEPDIRDPSEFEY
LFSKDTTQQKKKPLSETYEKKNKVKKIIKLLDGKRSQTVGILISSLHLEMKDIQQAIFNV
DDSVVDLETLAALYENRAQEDELVKIRKYYETSKEEELKLLDKPEQFLHELAQIPNFAER
AQCIIFRSVFSEGITSLHRKVEIITRASKDLLHVKSVKDILALILAFGNYMNGGNRTRGQ
ADGYSLEILPKLKDVKSRDNGINLVDYVVKYYLRYYDQEAGTEKSVFPLPEPQDFFLASQ
VKFEDLIKDLRKLKRQLEASEKQMVVVCKESPKEYLQPFKDKLEEFFQKAKKEHKMEESH
LENAQKSFETTVRYFGMKPKSGEKEITPSYVFMVWYEFCSDFK
TIWKRESKNISKERLKM
AQESVSKLTSEKKVETKKINPTASLKERLRQKEASVTTN
Sequence length 1419
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cerebral Palsy Ataxic Autosomal Recessive Associate 19096130
Colorectal Neoplasms Associate 29945573, 37249599
Drug Related Side Effects and Adverse Reactions Inhibit 32054832
Glioblastoma Associate 34559979
Mitochondrial complex I deficiency Associate 29976978
N syndrome Stimulate 29945573
Neoplasms Associate 36076540
Obesity Associate 37249599
Obsessive Compulsive Disorder Associate 25303678
Overweight Associate 37249599