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Aliases for FMN2 Gene

Aliases for FMN2 Gene

  • Formin 2 2 3
  • Formin-2 3

External Ids for FMN2 Gene

Previous GeneCards Identifiers for FMN2 Gene

  • GC01P238337
  • GC01P235709
  • GC01P236553
  • GC01P237296
  • GC01P236502
  • GC01P240177
  • GC01P210713

Summaries for FMN2 Gene

Entrez Gene Summary for FMN2 Gene

  • This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. Mutations in this gene have been associated with mental retardation autosomal recessive 47 (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

GeneCards Summary for FMN2 Gene

FMN2 (Formin 2) is a Protein Coding gene. Diseases associated with FMN2 include mental retardation, autosomal recessive 47 and autosomal recessive non-syndromic intellectual disability. Among its related pathways are Dorso-ventral axis formation. GO annotations related to this gene include actin binding. An important paralog of this gene is DIAPH3.

UniProtKB/Swiss-Prot for FMN2 Gene

  • Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis (By similarity). Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization. Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport. Plays a role in responses to DNA damage, cellular stress and hypoxia by protecting CDKN1A against degradation, and thereby plays a role in stress-induced cell cycle arrest. Protects cells against apoptosis by protecting CDKN1A against degradation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FMN2 Gene

Genomics for FMN2 Gene

Regulatory Elements for FMN2 Gene

Genomic Location for FMN2 Gene

Start:
240,014,348 bp from pter
End:
240,475,191 bp from pter
Size:
460,844 bases
Orientation:
Plus strand

Genomic View for FMN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FMN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FMN2 Gene

Proteins for FMN2 Gene

  • Protein details for FMN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZ56-FMN2_HUMAN
    Recommended name:
    Formin-2
    Protein Accession:
    Q9NZ56
    Secondary Accessions:
    • B0QZA7
    • B4DP05
    • Q59GF6
    • Q5VU37
    • Q9NZ55

    Protein attributes for FMN2 Gene

    Size:
    1722 amino acids
    Molecular mass:
    180106 Da
    Quaternary structure:
    • Interacts with SPIRE1. Binds actin. Interacts with CDKN1A.
    SequenceCaution:
    • Sequence=AAF72884.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FMN2 Gene

    Alternative splice isoforms for FMN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FMN2 Gene

Proteomics data for FMN2 Gene at MOPED

Post-translational modifications for FMN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FMN2 Gene

No data available for DME Specific Peptides for FMN2 Gene

Domains for FMN2 Gene

Protein Domains for FMN2 Gene

Suggested Antigen Peptide Sequences for FMN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZ56

UniProtKB/Swiss-Prot:

FMN2_HUMAN :
  • Q9NZ56
Domain:
  • Contains 1 FH1 (formin homology 1) domain.
  • Contains 1 FH2 (formin homology 2) domain.
Family:
  • Belongs to the formin homology family. Cappuccino subfamily.
genes like me logo Genes that share domains with FMN2: view

No data available for Gene Families for FMN2 Gene

Function for FMN2 Gene

Molecular function for FMN2 Gene

UniProtKB/Swiss-Prot Function: Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis (By similarity). Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization. Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport. Plays a role in responses to DNA damage, cellular stress and hypoxia by protecting CDKN1A against degradation, and thereby plays a role in stress-induced cell cycle arrest. Protects cells against apoptosis by protecting CDKN1A against degradation.
UniProtKB/Swiss-Prot Induction: Up-regulated in response to cellular stress, hypoxia and DNA damage via NF-kappa-B.

Gene Ontology (GO) - Molecular Function for FMN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003779 actin binding IDA 20082305
genes like me logo Genes that share ontologies with FMN2: view

Phenotypes for FMN2 Gene

genes like me logo Genes that share phenotypes with FMN2: view

Animal Models for FMN2 Gene

MGI Knock Outs for FMN2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for FMN2 Gene

Localization for FMN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FMN2 Gene

Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cell cortex. Nucleus, nucleolus. Note=Recruited to the membranes via its interaction with SPIRE1. Colocalizes with the actin cytoskeleton. Detected at the cleavage furrow during asymmetric oocyte division and polar body extrusion (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FMN2 Gene COMPARTMENTS Subcellular localization image for FMN2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for FMN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component --
GO:0005730 nucleolus IDA 23375502
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with FMN2: view

Pathways for FMN2 Gene

SuperPathways for FMN2 Gene

genes like me logo Genes that share pathways with FMN2: view

Pathways by source for FMN2 Gene

1 KEGG pathway for FMN2 Gene

Interacting Proteins for FMN2 Gene

Gene Ontology (GO) - Biological Process for FMN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IMP 23375502
GO:0007275 multicellular organismal development IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport ISS --
GO:0016344 meiotic chromosome movement towards spindle pole --
genes like me logo Genes that share ontologies with FMN2: view

Transcripts for FMN2 Gene

Unigene Clusters for FMN2 Gene

Formin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FMN2 Gene

No ASD Table

Relevant External Links for FMN2 Gene

GeneLoc Exon Structure for
FMN2
ECgene alternative splicing isoforms for
FMN2

Expression for FMN2 Gene

mRNA expression in normal human tissues for FMN2 Gene

mRNA differential expression in normal tissues according to GTEx for FMN2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (4.8), Brain - Anterior cingulate cortex (BA24) (4.4), and Brain - Cortex (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FMN2 Gene

SOURCE GeneReport for Unigene cluster for FMN2 Gene Hs.24889

mRNA Expression by UniProt/SwissProt for FMN2 Gene

Q9NZ56-FMN2_HUMAN
Tissue specificity: Expressed almost exclusively in the developing and mature central nervous system.
genes like me logo Genes that share expressions with FMN2: view

Orthologs for FMN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FMN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FMN2 35
  • 98.61 (n)
  • 98.34 (a)
FMN2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fmn2 35
  • 82.43 (n)
  • 81.92 (a)
Fmn2 16
Fmn2 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FMN2 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FMN2 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100360457 35
  • 83.03 (n)
  • 82.67 (a)
chicken
(Gallus gallus)
Aves FMN2 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FMN2 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fmn2 35
  • 65.42 (n)
  • 62.97 (a)
Str.2094 35
zebrafish
(Danio rerio)
Actinopterygii fmn2a 36
  • 40 (a)
OneToMany
fmn2b 36
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta capu 36
  • 26 (a)
OneToMany
capu 37
  • 38 (a)
Species with no ortholog for FMN2:
  • 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)
  • dog (Canis familiaris)
  • 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)
  • 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 FMN2 Gene

ENSEMBL:
Gene Tree for FMN2 (if available)
TreeFam:
Gene Tree for FMN2 (if available)

Paralogs for FMN2 Gene

Selected SIMAP similar genes for FMN2 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for FMN2 Gene

genes like me logo Genes that share paralogs with FMN2: view

Variants for FMN2 Gene

Sequence variations from dbSNP and Humsavar for FMN2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs716527 -- 240,263,855(+) TATAT(A/C)TGTCC intron-variant
rs716603 -- 240,263,767(+) GACAC(A/G)TTAAA intron-variant
rs720163 -- 240,132,575(-) TCTTC(C/T)ACATT intron-variant
rs723574 -- 240,153,938(+) TGGCA(A/C)AACCC intron-variant
rs731186 -- 240,193,753(+) CTGCA(A/G)TATTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FMN2 Gene

Variant ID Type Subtype PubMed ID
nsv873351 CNV Gain 21882294
dgv194e1 CNV Complex 17122850
esv35011 CNV Gain 17911159
essv4530 CNV CNV 17122850
dgv553n71 CNV Gain 21882294
nsv827531 CNV Gain 20364138
nsv873358 CNV Gain 21882294
esv2725918 CNV Deletion 23290073
esv1922446 CNV Deletion 18987734
esv2725929 CNV Deletion 23290073
esv2725940 CNV Deletion 23290073
nsv159120 CNV Loss 16902084
nsv873359 CNV Gain 21882294
nsv509713 CNV Insertion 20534489
nsv499240 CNV Gain 21111241
esv1641435 CNV Insertion 17803354
nsv520710 CNV Gain 19592680
nsv821622 CNV Loss 15273396
esv1783439 CNV Insertion 17803354
esv988900 CNV Deletion 20482838
nsv511745 CNV Loss 21212237
esv2655283 CNV Deletion 19546169
nsv8992 CNV Loss 18304495
esv2413252 CNV Deletion 18987734
esv2725951 CNV Deletion 23290073
esv6586 CNV Loss 19470904
esv2671502 CNV Deletion 23128226
dgv112n67 CNV Loss 20364138
dgv12e180 CNV Loss 20482838
esv28231 CNV Loss 19812545
esv2421851 CNV Deletion 20811451
esv2421638 CNV Deletion 20811451
nsv833048 CNV Gain 17160897
nsv873360 CNV Gain 21882294
esv2725962 CNV Deletion 23290073
esv2075596 CNV Deletion 18987734
esv2725973 CNV Deletion 23290073
nsv159151 CNV Loss 16902084
esv2725984 CNV Deletion 23290073
esv2662346 CNV Deletion 23128226
esv2725995 CNV Deletion 23290073
nsv873361 CNV Gain 21882294
esv2600451 CNV Deletion 19546169
esv2145928 CNV Deletion 18987734
esv8951 CNV Loss 19470904
esv2726006 CNV Deletion 23290073
nsv527343 CNV Loss 19592680

Relevant External Links for FMN2 Gene

HapMap Linkage Disequilibrium report
FMN2
Human Gene Mutation Database (HGMD)
FMN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FMN2 Gene

Disorders for FMN2 Gene

UniProtKB/Swiss-Prot

FMN2_HUMAN
  • Mental retardation, autosomal recessive 47 (MRT47) [MIM:616193]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT47 patients show delayed development, with cognition and speech more affected than motor skills. {ECO:0000269 PubMed:25480035}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FMN2

Genetic Association Database (GAD)
FMN2
Human Genome Epidemiology (HuGE) Navigator
FMN2
genes like me logo Genes that share disorders with FMN2: view

Publications for FMN2 Gene

  1. Formin-2, a novel formin homology protein of the cappuccino subfamily, is highly expressed in the developing and adult central nervous system. (PMID: 10781961) Leader B. … Leder P. (Mech. Dev. 2000) 2 3 4 23
  2. Effects of genistein on beta-catenin signaling and subcellular distribution of actin-binding proteins in human umbilical CD105- positive stromal cells. (PMID: 20082305) Shieh D.B. … Liou Y.M. (J. Cell. Physiol. 2010) 3 4 23
  3. Characterization of FMN2 gene at human chromosome 1q43. (PMID: 15289902) Katoh M. … Katoh M. (Int. J. Mol. Med. 2004) 3 23
  4. Characterization and mutation analysis of the human formin-2 (FMN2) gene in women with unexplained infertility. (PMID: 15866570) Ryley D.A. … Gray M.R. (Fertil. Steril. 2005) 3 23
  5. Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study. (PMID: 19955471) Bressler J. … Boerwinkle E. (Am. J. Epidemiol. 2010) 3 48

Products for FMN2 Gene

Sources for FMN2 Gene

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