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. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinucle... See more...

Aliases for FMN2 Gene

Aliases for FMN2 Gene

  • Formin 2 2 3 5
  • Formin-2 3 4

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. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]

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. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is DIAPH1.

UniProtKB/Swiss-Prot Summary for FMN2 Gene

  • Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization (PubMed:22330775, PubMed:21730168). Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2 (PubMed:22330775, PubMed:21730168). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (By similarity). Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis (By similarity). 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 (PubMed:23375502). Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480). Protects cells against apoptosis by protecting CDKN1A against degradation (PubMed:23375502).

Additional gene information for FMN2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FMN2 Gene

Genomics for FMN2 Gene

GeneHancer (GH) Regulatory Elements for FMN2 Gene

Promoters and enhancers for FMN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J240350 Enhancer 1 FANTOM5 Ensembl ENCODE 12.4 +337.6 337571 3.2 JUND FOS ATF2 CREB1 FOSL2 TARDBP EZH2 FOXP2 RAD21 BHLHE40 FMN2 GREM2 ENSG00000252317 RF00994-108
GH01J240306 Enhancer 1.1 FANTOM5 Ensembl ENCODE 9.5 +295.5 295523 7.2 ZSCAN5C TCF12 FOS ZNF10 EP300 WT1 BRCA1 FOSL2 CEBPB RCOR1 FMN2 GREM2 ENSG00000252317 piR-50852-015
GH01J240337 Enhancer 0.9 Ensembl ENCODE 9.1 +323.6 323649 1.6 ZSCAN5C REST POLR2A ZBTB17 TCF7L2 FOS CEBPB USF1 REPIN1 EZH2 FMN2 ENSG00000252317 piR-50852-015
GH01J240242 Enhancer 1.1 Ensembl ENCODE dbSUPER 6.6 +230.3 230346 5.4 FOS ZNF10 ZNF341 OSR2 ZBTB17 EZH2 ZFHX2 JUND ZNF335 PKNOX1 FMN2 piR-50852-015 lnc-GREM2-12
GH01J240284 Enhancer 0.6 ENCODE 12.3 +271.1 271080 2.3 POLR2A FOS CEBPB GTF2F1 STAT3 JUND MAX EP300 USF2 BHLHE40 FMN2 piR-50852-015 ENSG00000252317
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FMN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FMN2

Top Transcription factor binding sites by QIAGEN in the FMN2 gene promoter:
  • AhR
  • AP-2gamma
  • Arnt
  • GATA-1
  • GCNF
  • GCNF-1
  • GCNF-2
  • Gfi-1
  • HTF
  • TBP

Genomic Locations for FMN2 Gene

Genomic Locations for FMN2 Gene
chr1:240,014,348-240,475,189
(GRCh38/hg38)
Size:
460,842 bases
Orientation:
Plus strand
chr1:240,177,648-240,638,489
(GRCh37/hg19)
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 (PubMed:21705804, PubMed:21730168). Binds actin (PubMed:20082305). Interacts with CDKN1A (PubMed:23375502).
    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

No data available for DME Specific Peptides for FMN2 Gene

Domains & Families for FMN2 Gene

Gene Families for FMN2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FMN2 Gene

Blocks:
  • Actin-binding FH2
  • Formin Homology 1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FMN2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60748, highly similar to Homo sapiens formin 2 (FMN2), mRNA (B4DP05_HUMAN)
  • Formin-2 (FMN2_HUMAN)
  • FMN2 protein (Q96L17_HUMAN)

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

Function for FMN2 Gene

Molecular function for FMN2 Gene

UniProtKB/Swiss-Prot Function:
Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization (PubMed:22330775, PubMed:21730168). Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2 (PubMed:22330775, PubMed:21730168). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (By similarity). Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis (By similarity). 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 (PubMed:23375502). Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480). Protects cells against apoptosis by protecting CDKN1A against degradation (PubMed:23375502).
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to cellular stress, hypoxia and DNA damage via NF-kappa-B.

Phenotypes From GWAS Catalog for FMN2 Gene

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,IEA 20082305
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with FMN2: view
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

CRISPR Products

miRNA for FMN2 Gene

Clone 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, cytosol. Cytoplasm, perinuclear region. Nucleus. Nucleus, nucleolus. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cell cortex. Note=Colocalizes with the actin cytoskeleton (PubMed:20082305). Recruited to the membranes via its interaction with SPIRE1 (By similarity). Detected at the cleavage furrow during asymmetric oocyte division and polar body extrusion (By similarity). Accumulates in the nucleus following DNA damage (PubMed:26287480). {ECO:0000250 UniProtKB:Q9JL04, ECO:0000269 PubMed:20082305, ECO:0000269 PubMed:26287480}.

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 4
cytoskeleton 3
endoplasmic reticulum 3
extracellular 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FMN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IBA,IDA 26287480
GO:0005730 nucleolus IEA,IDA 23375502
GO:0005737 cytoplasm IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with FMN2: view

Pathways & Interactions for FMN2 Gene

PathCards logo

SuperPathways for FMN2 Gene

No Data Available

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 organism development IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA,ISS --
GO:0016344 meiotic chromosome movement towards spindle pole IEA --
genes like me logo Genes that share ontologies with FMN2: view

No data available for Pathways by source and SIGNOR curated interactions for FMN2 Gene

Drugs & Compounds for FMN2 Gene

No Compound Related Data Available

Transcripts for FMN2 Gene

mRNA/cDNA for FMN2 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for FMN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for FMN2 Gene



Protein tissue co-expression partners for FMN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 98.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 31
  • 88 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
-- 31
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FMN2 31
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100360457 30
  • 83.03 (n)
mouse
(Mus musculus)
Mammalia Fmn2 17 31 30
  • 82.43 (n)
oppossum
(Monodelphis domestica)
Mammalia FMN2 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves FMN2 31
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FMN2 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fmn2 30
  • 65.42 (n)
Str.2094 30
zebrafish
(Danio rerio)
Actinopterygii fmn2b 31
  • 50 (a)
OneToMany
fmn2a 31
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta capu 31 32
  • 26 (a)
OneToMany
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)
Aminode:
Evolutionary constrained regions (ECRs) for FMN2: view image

Paralogs for FMN2 Gene

(1) SIMAP similar genes for FMN2 Gene using alignment to 6 proteins:

  • FMN2_HUMAN
  • B0QZA8_HUMAN
  • B0QZD5_HUMAN
  • B4DP05_HUMAN
  • Q2M1H5_HUMAN
  • Q96L17_HUMAN

Pseudogenes.org Pseudogenes for FMN2 Gene

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

Variants for FMN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FMN2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
593938 Uncertain Significance: not provided 240,207,943(+) C/G MISSENSE_VARIANT,INTRON_VARIANT
593940 Uncertain Significance: not provided 240,207,384(+) C/A MISSENSE_VARIANT,INTRON_VARIANT
596770 Uncertain Significance: not provided 240,092,915(+) C/G MISSENSE_VARIANT
638330 Uncertain Significance: Mental retardation, autosomal recessive 47 240,093,487(+) G/A MISSENSE_VARIANT
rs11583501 Benign: not specified 240,092,805(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FMN2 Gene

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)

Additional Variant Information for FMN2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FMN2 Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for FMN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Mechanisms of development 2000) 2 3 4 23 54
  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 DB … Liou YM (Journal of cellular physiology 2010) 3 4 23 54
  3. DNA damage induces nuclear actin filament assembly by Formin -2 and Spire-½ that promotes efficient DNA repair. [corrected]. (PMID: 26287480) Belin BJ … Mullins RD (eLife 2015) 3 4 54
  4. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. (PMID: 25480035) Law R … Gleeson JG (American journal of human genetics 2014) 3 4 54
  5. Identification and functional characterization of FMN2, a regulator of the cyclin-dependent kinase inhibitor p21. (PMID: 23375502) Yamada K … Lamond AI (Molecular cell 2013) 3 4 54

Products for FMN2 Gene

Sources for FMN2 Gene