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Aliases for FMN1 Gene

Aliases for FMN1 Gene

  • Formin 1 2 3 5
  • Limb Deformity Protein Homolog 3 4
  • Formin (Limb Deformity) 2 3
  • FMN 3 4
  • LD 3 4
  • Limb Deformity Protein 2
  • Formin-1 3

External Ids for FMN1 Gene

Previous HGNC Symbols for FMN1 Gene

  • LD
  • FMN

Previous GeneCards Identifiers for FMN1 Gene

  • GC15M030854
  • GC15M033066
  • GC15M009919
  • GC15M033059

Summaries for FMN1 Gene

Entrez Gene Summary for FMN1 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 spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]

GeneCards Summary for FMN1 Gene

FMN1 (Formin 1) is a Protein Coding gene. Diseases associated with FMN1 include Thoracic Outlet Syndrome and Auditory Neuropathy, Autosomal Dominant, 1. Among its related pathways are E-cadherin signaling in keratinocytes and Cell adhesion_Cadherin-mediated cell adhesion. GO annotations related to this gene include actin binding and microtubule binding. An important paralog of this gene is FMN2.

UniProtKB/Swiss-Prot for FMN1 Gene

  • Plays a role in the formation of adherens junction and the polymerization of linear actin cables.

Additional gene information for FMN1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FMN1 Gene

Genomics for FMN1 Gene

Regulatory Elements for FMN1 Gene

Enhancers for FMN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H033125 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.3 +67.8 67835 2 PKNOX1 NFIB FEZF1 ZNF366 ZSCAN5C SCRT2 RCOR1 CEBPB OVOL3 ELF1 FMN1 ENSG00000212415 ENSG00000279958
GH15H033021 1.1 Ensembl ENCODE dbSUPER 25.8 +172.1 172140 1 SCRT1 CTCF ZNF654 ATF2 RAD21 SCRT2 SMC3 ZNF143 FOXP2 PRDM10 FMN1 ENSG00000212415 HNRNPA1P71 ENSG00000279958
GH15H033103 1.1 Ensembl ENCODE dbSUPER 24.7 +89.8 89783 2 PKNOX1 JUND POLR2A FOS MAFK RFX5 FMN1 SCG5 ENSG00000279958 HNRNPA1P71
GH15H033112 1.2 FANTOM5 ENCODE dbSUPER 18.6 +80.1 80093 4 ZSCAN4 OSR2 CBX8 ZFHX2 ZSCAN16 SCRT2 FOS MAFK SP7 EGR2 FMN1 ENSG00000279958
GH15H033066 1.1 Ensembl ENCODE 18.9 +126.2 126172 4 ELF3 TBP INSM2 SIN3A NFXL1 RFX5 SCRT2 CEBPB ELF1 ZNF518A FMN1 ENSG00000212415 ENSG00000279958 HNRNPA1P71
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FMN1 on UCSC Golden Path with GeneCards custom track

Promoters for FMN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000074705 -116 1001 PKNOX1 ATF1 TAL1 DDX20 ZNF266 TCF12 GLIS2 POLR2A EGR1 NFYB

Genomic Location for FMN1 Gene

32,765,544 bp from pter
33,194,784 bp from pter
429,241 bases
Minus strand

Genomic View for FMN1 Gene

Genes around FMN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FMN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FMN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FMN1 Gene

Proteins for FMN1 Gene

  • Protein details for FMN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q3B7I6
    • Q3ZAR4
    • Q6ZSY1

    Protein attributes for FMN1 Gene

    1419 amino acids
    Molecular mass:
    157578 Da
    Quaternary structure:
    • Interacts with alpha-catenin and may interact with tubulin.

    Alternative splice isoforms for FMN1 Gene


neXtProt entry for FMN1 Gene

Post-translational modifications for FMN1 Gene

  • Phosphorylated on serine and possibly threonine residues.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FMN1 Gene

Domains & Families for FMN1 Gene

Gene Families for FMN1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FMN1 Gene

Suggested Antigen Peptide Sequences for FMN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the formin homology family. Cappuccino subfamily.
  • Belongs to the formin homology family. Cappuccino subfamily.
genes like me logo Genes that share domains with FMN1: view

Function for FMN1 Gene

Molecular function for FMN1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the formation of adherens junction and the polymerization of linear actin cables.

Phenotypes From GWAS Catalog for FMN1 Gene

Gene Ontology (GO) - Molecular Function for FMN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0008017 microtubule binding IEA --
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with FMN1: view
genes like me logo Genes that share phenotypes with FMN1: view

Animal Models for FMN1 Gene

MGI Knock Outs for FMN1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FMN1 Gene

Localization for FMN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FMN1 Gene

Nucleus. Cytoplasm. Cell junction, adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Localization to the adherens junctions is alpha-catenin-dependent. Also localizes to F-actin bundles originating from adherens junctions and to microtubules (By similarity). {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FMN1 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 4
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FMN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005884 actin filament IEA --
GO:0005886 plasma membrane IEA --
GO:0005912 adherens junction IEA --
genes like me logo Genes that share ontologies with FMN1: view

Pathways & Interactions for FMN1 Gene

genes like me logo Genes that share pathways with FMN1: view

Pathways by source for FMN1 Gene

1 BioSystems pathway for FMN1 Gene
1 GeneGo (Thomson Reuters) pathway for FMN1 Gene

Gene Ontology (GO) - Biological Process for FMN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010467 gene expression IEA --
GO:0030838 positive regulation of actin filament polymerization IEA --
GO:0035136 forelimb morphogenesis IEA --
GO:0035137 hindlimb morphogenesis IEA --
GO:0045010 actin nucleation IEA --
genes like me logo Genes that share ontologies with FMN1: view

No data available for SIGNOR curated interactions for FMN1 Gene

Drugs & Compounds for FMN1 Gene

(3) Drugs for FMN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for FMN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FMN1: view

Transcripts for FMN1 Gene

Unigene Clusters for FMN1 Gene

Formin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FMN1 Gene

No ASD Table

Relevant External Links for FMN1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FMN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FMN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FMN1 Gene

This gene is overexpressed in Retina (49.7) and Peripheral blood mononuclear cells (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FMN1 Gene

Protein tissue co-expression partners for FMN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FMN1 Gene:


SOURCE GeneReport for Unigene cluster for FMN1 Gene:


Evidence on tissue expression from TISSUES for FMN1 Gene

  • Nervous system(4.4)
  • Eye(4.1)
  • Liver(4.1)
  • Skin(2.8)
genes like me logo Genes that share expression patterns with FMN1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FMN1 Gene

Orthologs for FMN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FMN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FMN1 34 33
  • 98.67 (n)
(Bos Taurus)
Mammalia -- 34
  • 95 (a)
-- 34
  • 89 (a)
(Mus musculus)
Mammalia Fmn1 33 16 34
  • 82.15 (n)
(Ornithorhynchus anatinus)
Mammalia FMN1 34
  • 82 (a)
(Rattus norvegicus)
Mammalia Fmn1 33
  • 81.37 (n)
(Monodelphis domestica)
Mammalia FMN1 34
  • 74 (a)
(Canis familiaris)
Mammalia FMN1 34
  • 53 (a)
(Gallus gallus)
Aves FMN1 34
  • 54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fmn1 33
  • 58.63 (n)
(Danio rerio)
Actinopterygii FMN1 (4 of 4) 34
  • 73 (a)
FMN1 (2 of 4) 34
  • 67 (a)
FMN1 (3 of 4) 34
  • 35 (a)
fmn1 34
  • 34 (a)
fruit fly
(Drosophila melanogaster)
Insecta capu 34
  • 21 (a)
Species where no ortholog for FMN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FMN1 Gene

Gene Tree for FMN1 (if available)
Gene Tree for FMN1 (if available)

Paralogs for FMN1 Gene

Paralogs for FMN1 Gene

(2) SIMAP similar genes for FMN1 Gene using alignment to 6 proteins: Pseudogenes for FMN1 Gene

genes like me logo Genes that share paralogs with FMN1: view

Variants for FMN1 Gene

Sequence variations from dbSNP and Humsavar for FMN1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs111822533 Likely benign 33,067,775(+) ATAGG(G/T)ATTTC intron-variant, reference, missense
rs114851360 Likely benign 32,774,309(+) TTCAT(C/T)TTAGT utr-variant-3-prime
rs199592529 Likely benign 32,964,244(+) GGTTG(A/G)TGTAG reference, missense
rs147769257 Uncertain significance 32,804,287(+) TTTTC(C/T)GTGCA intron-variant, reference, missense
rs199988791 Uncertain significance 32,964,135(+) CATAA(A/C/G)TCTCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FMN1 Gene

Variant ID Type Subtype PubMed ID
dgv2549n100 CNV gain 25217958
dgv4456n54 CNV gain 21841781
esv1089006 CNV deletion 17803354
esv1210728 CNV insertion 17803354
esv1533512 CNV deletion 17803354
esv1647338 CNV deletion 17803354
esv2422296 CNV duplication 17116639
esv2761862 CNV gain 21179565
esv2763090 CNV loss 21179565
esv2763091 CNV loss 21179565
esv3304136 CNV mobile element insertion 20981092
esv33337 CNV gain+loss 17666407
esv3365060 CNV insertion 20981092
esv3385230 CNV duplication 20981092
esv3581614 CNV loss 25503493
esv3636080 CNV loss 21293372
esv3892661 CNV gain 25118596
esv3892662 CNV gain 25118596
nsv1052620 CNV gain 25217958
nsv1127421 CNV deletion 24896259
nsv1127422 CNV deletion 24896259
nsv1134427 CNV deletion 24896259
nsv1482 CNV deletion 18451855
nsv456785 CNV gain 19166990
nsv471856 CNV novel sequence insertion 20440878
nsv521903 CNV loss 19592680
nsv524708 CNV loss 19592680
nsv568913 CNV gain 21841781
nsv568917 CNV loss 21841781
nsv568918 CNV loss 21841781
nsv832961 CNV gain 17160897
nsv832962 CNV loss 17160897
nsv957983 CNV deletion 24416366
nsv976917 CNV duplication 23825009

Variation tolerance for FMN1 Gene

Residual Variation Intolerance Score: 87.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.56; 98.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FMN1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FMN1 Gene

Disorders for FMN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FMN1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thoracic outlet syndrome
  • tos - thoracic outlet syndrome
auditory neuropathy, autosomal dominant, 1
  • autosomal dominant auditory neuropathy 1
  • sarcomatosis nos
renal hypoplasia
asphyxiating thoracic dystrophy
  • jeune syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FMN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FMN1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FMN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FMN1 Gene

Publications for FMN1 Gene

  1. A human gene homologous to the formin gene residing at the murine limb deformity locus: chromosomal location and RFLPs. (PMID: 1673046) Maas RL … Leder P (American journal of human genetics 1991) 2 3 4 22 60
  2. Identification and characterization of the human FMN1 gene in silico. (PMID: 15202026) Katoh M … Katoh M (International journal of molecular medicine 2004) 3 4 22 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. [A study of the single nucleotide polymorphism in seven genes (GHR, IGFBP3, IGFR1, IRS1, FMN1, ANXA2, TaGLN) in ethnic Russians and in patients with prostate cancer]. (PMID: 20540360) Lisitskaia KV … Shishkin SS (Molekuliarnaia genetika, mikrobiologiia i virusologiia 2010) 3 45 60
  5. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. (PMID: 20023658) Mangold E … Nöthen MM (Nature genetics 2010) 3 45 60

Products for FMN1 Gene

Sources for FMN1 Gene

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