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Aliases for FMN2 Gene

Aliases for FMN2 Gene

  • Formin 2 2 3 5
  • 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 FMN1.

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 CIViC summary , 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

Enhancers for FMN2 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
GH01G240350 1.1 FANTOM5 ENCODE 12.4 +337.6 337571 3.2 ZNF133 FEZF1 ZNF121 FOS ZBTB11 ZEB2 ZNF398 ZNF662 ZNF843 ZNF148 FMN2 GREM2 ENSG00000252317 GC01P240390
GH01G240306 1.1 Ensembl ENCODE 9.5 +294.5 294504 5.2 ZSCAN5C ZNF350 FOS RELB ZNF280D ZNF362 CEBPB TSHZ1 TBX21 MAFF FMN2 GREM2 ENSG00000252317 ENSG00000233735
GH01G240242 1.3 Ensembl ENCODE dbSUPER 6.6 +230.3 230346 5.4 PKNOX1 INSM2 SIN3A ZNF2 SCRT2 FOS EGR2 ZNF202 TSHZ1 ZEB2 FMN2 ENSG00000233735 ENSG00000252317
GH01G240311 1 FANTOM5 ENCODE 7.5 +298.3 298297 1.7 MAX BRCA1 GATA3 RCOR1 FOS MAFK NFE2L2 TCF7L2 ZNF174 BHLHE40 FMN2 GREM2 ENSG00000252317 ENSG00000233735
GH01G240284 0.6 ENCODE 12.3 +271.1 271081 2.3 GTF2F1 BHLHE40 MAX USF2 CEBPB ELF4 MNT EP300 JUND EGR2 FMN2 ENSG00000252317 ENSG00000233735
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FMN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for FMN2 Gene

Chromosome:
1
Start:
240,014,348 bp from pter
End:
240,475,189 bp from pter
Size:
460,842 bases
Orientation:
Plus strand

Genomic View for FMN2 Gene

Genes around FMN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FMN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for FMN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for FMN2

No data available for DME Specific Peptides for FMN2 Gene

Domains & Families for FMN2 Gene

Suggested Antigen Peptide Sequences for FMN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZ56

UniProtKB/Swiss-Prot:

FMN2_HUMAN :
  • Belongs to the formin homology family. Cappuccino subfamily.
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 IEA,IDA 20082305
GO:0008017 microtubule binding IEA --
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

Human Phenotype Ontology for FMN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FMN2 Gene

MGI Knock Outs for FMN2:

Animal Model Products

miRNA for FMN2 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
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 FMN2 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
cytoskeleton 3
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for FMN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA,IDA 23375502
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with FMN2: view

Pathways & Interactions for FMN2 Gene

SuperPathway Contained pathways
1 Dorso-ventral axis formation
genes like me logo Genes that share pathways with FMN2: view

Pathways by source for FMN2 Gene

1 KEGG pathway for FMN2 Gene

Gene Ontology (GO) - Biological Process for FMN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006974 cellular response to DNA damage stimulus IMP 23375502
GO:0007275 multicellular organism development IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport ISS,IEA --
genes like me logo Genes that share ontologies with FMN2: view

No data available for SIGNOR curated interactions for FMN2 Gene

Transcripts for FMN2 Gene

Unigene Clusters for FMN2 Gene

Formin 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for FMN2 Gene

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

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.8), Brain - Anterior cingulate cortex (BA24) (x4.4), and Brain - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for FMN2 Gene

This gene is overexpressed in Retina (18.6), Frontal cortex (13.9), Pancreatic juice (9.9), and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FMN2 Gene



Protein tissue co-expression partners for FMN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FMN2 Gene:

FMN2

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.

Evidence on tissue expression from TISSUES for FMN2 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FMN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with FMN2: view

Primer Products

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 34 35
  • 98.61 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 88 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FMN2 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100360457 34
  • 83.03 (n)
mouse
(Mus musculus)
Mammalia Fmn2 34 16 35
  • 82.43 (n)
oppossum
(Monodelphis domestica)
Mammalia FMN2 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves FMN2 35
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FMN2 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fmn2 34
  • 65.42 (n)
Str.2094 34
zebrafish
(Danio rerio)
Actinopterygii fmn2b 35
  • 50 (a)
OneToMany
fmn2a 35
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta capu 36 35
  • 38 (a)
Species where no ortholog for FMN2 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)
  • 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

Paralogs for FMN2 Gene

(1) 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
rs727502860 Pathogenic 240,093,503(+) GCCCC(-/C)GGCCA intron-variant, reference, frameshift-variant
rs727502861 Pathogenic 240,207,327(+) TTCAA(-/A)CCAGC intron-variant, reference, frameshift-variant
rs886041659 Pathogenic 240,207,175(+) TTTGA(-/TT)GTGTC intron-variant, reference, frameshift-variant
rs762281932 Likely pathogenic 240,329,379(+) CAGAG(C/T)GAGTC downstream-variant-500B, reference, stop-gained
rs141094573 Uncertain significance 240,207,633(+) GAGCG(A/G)GAATA intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv112n67 CNV loss 20364138
dgv12e180 CNV loss 20482838
dgv307n106 CNV deletion 24896259
dgv308n106 CNV deletion 24896259
dgv309n106 CNV deletion 24896259
dgv871n54 CNV loss 21841781
dgv872n54 CNV loss 21841781
dgv873n54 CNV loss 21841781
dgv874n54 CNV loss 21841781
esv1641435 CNV insertion 17803354
esv1783439 CNV insertion 17803354
esv1922446 CNV deletion 18987734
esv2075596 CNV deletion 18987734
esv2145928 CNV deletion 18987734
esv2413252 CNV deletion 18987734
esv2421638 CNV deletion 20811451
esv2421851 CNV deletion 20811451
esv2600451 CNV deletion 19546169
esv2655283 CNV deletion 19546169
esv2662346 CNV deletion 23128226
esv2671502 CNV deletion 23128226
esv2725918 CNV deletion 23290073
esv2725929 CNV deletion 23290073
esv2725940 CNV deletion 23290073
esv2725951 CNV deletion 23290073
esv2725962 CNV deletion 23290073
esv2725973 CNV deletion 23290073
esv2725984 CNV deletion 23290073
esv2725995 CNV deletion 23290073
esv2726006 CNV deletion 23290073
esv2759009 CNV gain 17122850
esv28231 CNV loss 19812545
esv2846458 CNV deletion 24192839
esv3007343 CNV deletion 24192839
esv3412286 CNV duplication 20981092
esv35011 CNV gain 17911159
esv3549355 CNV deletion 23714750
esv3549377 CNV deletion 23714750
esv3578504 CNV loss 25503493
esv3578506 CNV loss 25503493
esv3589293 CNV gain 21293372
esv3589301 CNV gain 21293372
esv3589302 CNV loss 21293372
esv3589305 CNV loss 21293372
esv3589307 CNV loss 21293372
esv3589308 CNV loss 21293372
esv3589309 CNV loss 21293372
esv3589310 CNV loss 21293372
esv3589311 CNV loss 21293372
esv3589312 CNV loss 21293372
esv3589313 CNV loss 21293372
esv3891259 CNV gain 25118596
esv6586 CNV loss 19470904
esv8951 CNV loss 19470904
esv988900 CNV deletion 20482838
nsv1068638 CNV deletion 25765185
nsv1068990 CNV deletion 25765185
nsv1112223 CNV deletion 24896259
nsv1122464 CNV deletion 24896259
nsv1122465 CNV deletion 24896259
nsv1124302 CNV deletion 24896259
nsv1132834 CNV insertion 24896259
nsv1133952 CNV deletion 24896259
nsv1137856 CNV deletion 24896259
nsv1141751 CNV insertion 24896259
nsv1144446 CNV deletion 24896259
nsv1145410 CNV deletion 24896259
nsv1150066 CNV insertion 26484159
nsv1151585 CNV deletion 26484159
nsv159120 CNV deletion 16902084
nsv159151 CNV deletion 16902084
nsv499240 CNV gain 21111241
nsv509713 CNV insertion 20534489
nsv511745 CNV loss 21212237
nsv520710 CNV gain 19592680
nsv527343 CNV loss 19592680
nsv549441 CNV loss 21841781
nsv549442 CNV loss 21841781
nsv549453 CNV loss 21841781
nsv821622 CNV loss 15273396
nsv827531 CNV gain 20364138
nsv833048 CNV gain 17160897
nsv8992 CNV loss 18304495
nsv945395 CNV duplication 23825009
nsv954003 CNV deletion 24416366
nsv958631 CNV deletion 24416366

Variation tolerance for FMN2 Gene

Residual Variation Intolerance Score: 55.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.76; 93.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FMN2 Gene

Human Gene Mutation Database (HGMD)
FMN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FMN2

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

Disorders for FMN2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FMN2 Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 47
  • mrt47
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search FMN2 in MalaCards View complete list of genes associated with diseases

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FMN2
genes like me logo Genes that share disorders with FMN2: view

No data available for Genatlas for FMN2 Gene

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 22 64
  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 22 64
  3. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. (PMID: 25480035) Law R. … Gleeson J.G. (Am. J. Hum. Genet. 2014) 3 4 64
  4. Identification and functional characterization of FMN2, a regulator of the cyclin-dependent kinase inhibitor p21. (PMID: 23375502) Yamada K. … Lamond A.I. (Mol. Cell 2013) 3 4 64
  5. Molecular basis of actin nucleation factor cooperativity: crystal structure of the Spir-1 kinase non-catalytic C-lobe domain (KIND)*formin-2 formin SPIR interaction motif (FSI) complex. (PMID: 21705804) Zeth K. … Kerkhoff E. (J. Biol. Chem. 2011) 3 4 64

Products for FMN2 Gene

Sources for FMN2 Gene

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