This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] See more...

Aliases for FMNL2 Gene

Aliases for FMNL2 Gene

  • Formin Like 2 2 3 5
  • Formin Homology 2 Domain-Containing Protein 2 3 4
  • Formin Homology 2 Domain Containing 2 2 3
  • Formin-Like Protein 2 3 4
  • FHOD2 3 4
  • Formin-Like 2 2
  • KIAA1902 4

External Ids for FMNL2 Gene

Previous HGNC Symbols for FMNL2 Gene

  • FHOD2

Previous GeneCards Identifiers for FMNL2 Gene

  • GC02U900457
  • GC02P153395
  • GC02P153017
  • GC02P152899
  • GC02P153191
  • GC02P145077

Summaries for FMNL2 Gene

Entrez Gene Summary for FMNL2 Gene

  • This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for FMNL2 Gene

FMNL2 (Formin Like 2) is a Protein Coding gene. Diseases associated with FMNL2 include Malignant Breast Melanoma and Cerebral Amyloid Angiopathy, Itm2b-Related, 2. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include binding and Rho GTPase binding. An important paralog of this gene is FMNL3.

UniProtKB/Swiss-Prot Summary for FMNL2 Gene

  • Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics.

Gene Wiki entry for FMNL2 Gene

Additional gene information for FMNL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FMNL2 Gene

Genomics for FMNL2 Gene

GeneHancer (GH) Regulatory Elements for FMNL2 Gene

Promoters and enhancers for FMNL2 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
GH02J152334 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.1 1131 3.8 ZNF217 NRF1 MYC POLR2G PHF8 SIX5 ZFX POLR2A ZBTB10 ZBTB26 FMNL2 ARL5A STAM2 NUDCP1
GH02J152464 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 16 +131.8 131806 6.1 ZSCAN5C SP1 FOS EP300 POLR2A TRIM28 RAD21 OSR2 BCL11A MYC FMNL2 ENSG00000287085 piR-60146-082
GH02J152462 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 22.8 +127.8 127769 0.3 TGIF2 RBM22 EHMT2 FMNL2 ARL6IP6 CACNB4 ENSG00000287085 piR-60146-082
GH02J152383 Enhancer 0.9 Ensembl dbSUPER 17.4 +50.5 50531 3 NCOR1 TEAD1 TBX3 KMT2B CEBPB RBM22 FOXP1 SMAD4 ZNF511 ZGPAT FMNL2 NUDCP1
GH02J152376 Enhancer 0.8 Ensembl dbSUPER 17.3 +44.3 44331 7 ZBTB26 FOXA2 RBM22 FOXP1 SMAD4 JUND BCL6 NFIB ZNF664 NFIA FMNL2 STAM2 NEB NUDCP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FMNL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FMNL2

Top Transcription factor binding sites by QIAGEN in the FMNL2 gene promoter:
  • AML1a
  • AREB6
  • c-Myb
  • FOXL1
  • HNF-3beta
  • p53
  • Pax-6
  • POU3F2
  • S8
  • Zic1

Genomic Locations for FMNL2 Gene

Genomic Locations for FMNL2 Gene
chr2:152,335,170-152,649,834
(GRCh38/hg38)
Size:
314,665 bases
Orientation:
Plus strand
chr2:153,191,751-153,506,348
(GRCh37/hg19)
Size:
314,598 bases
Orientation:
Plus strand

Genomic View for FMNL2 Gene

Genes around FMNL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FMNL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FMNL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FMNL2 Gene

Proteins for FMNL2 Gene

  • Protein details for FMNL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PY5-FMNL2_HUMAN
    Recommended name:
    Formin-like protein 2
    Protein Accession:
    Q96PY5
    Secondary Accessions:
    • B2RZH5
    • Q14CC9
    • Q4ZG52
    • Q8N3E0

    Protein attributes for FMNL2 Gene

    Size:
    1086 amino acids
    Molecular mass:
    123321 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI13879.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=AAI14439.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=AAX88959.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB67795.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FMNL2 Gene

    Alternative splice isoforms for FMNL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FMNL2 Gene

Post-translational modifications for FMNL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FMNL2 Gene

Domains & Families for FMNL2 Gene

Gene Families for FMNL2 Gene

Protein Domains for FMNL2 Gene

Blocks:
  • Actin-binding FH2
  • Diaphanous FH3
  • Translation initiation factor SUI1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FMNL2 Gene

GenScript: Design optimal peptide antigens:
  • Formin homology 2 domain-containing protein 2 (FMNL2_HUMAN)
  • cDNA FLJ16308 fis, clone PUAEN2006335 (Q6ZN96_HUMAN)
  • FMNL2 protein (Q96CE5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96PY5

UniProtKB/Swiss-Prot:

FMNL2_HUMAN :
  • The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).
  • Belongs to the formin homology family.
Domain:
  • The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).
Family:
  • Belongs to the formin homology family.
genes like me logo Genes that share domains with FMNL2: view

Function for FMNL2 Gene

Molecular function for FMNL2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics.

Phenotypes From GWAS Catalog for FMNL2 Gene

Gene Ontology (GO) - Molecular Function for FMNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0017048 Rho GTPase binding IEA --
GO:0032794 GTPase activating protein binding IBA 21873635
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with FMNL2: view
genes like me logo Genes that share phenotypes with FMNL2: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FMNL2 Gene

Localization for FMNL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FMNL2 Gene

Cytoplasm.

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 FMNL2 gene
Compartment Confidence
cytosol 4
plasma membrane 3
nucleus 3
cytoskeleton 2
golgi apparatus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FMNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FMNL2: view

Pathways & Interactions for FMNL2 Gene

genes like me logo Genes that share pathways with FMNL2: view

Pathways by source for FMNL2 Gene

Gene Ontology (GO) - Biological Process for FMNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA,IMP 21834987
GO:0008360 regulation of cell shape IBA 21873635
GO:0016043 cellular component organization IEA --
GO:0022604 regulation of cell morphogenesis IMP,IEA 21834987
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with FMNL2: view

No data available for SIGNOR curated interactions for FMNL2 Gene

Drugs & Compounds for FMNL2 Gene

No Compound Related Data Available

Transcripts for FMNL2 Gene

mRNA/cDNA for FMNL2 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FMNL2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^
SP1: - -
SP2:
SP3:
SP4:
SP5:

ExUns: 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c
SP1: - - -
SP2: -
SP3: - -
SP4:
SP5: - -

Relevant External Links for FMNL2 Gene

GeneLoc Exon Structure for
FMNL2

Expression for FMNL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FMNL2 Gene

mRNA differential expression in normal tissues according to GTEx for FMNL2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.2).

Protein differential expression in normal tissues from HIPED for FMNL2 Gene

This gene is overexpressed in Spinal cord (29.2) and Frontal cortex (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FMNL2 Gene



Protein tissue co-expression partners for FMNL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FMNL2

SOURCE GeneReport for Unigene cluster for FMNL2 Gene:

Hs.654630

Evidence on tissue expression from TISSUES for FMNL2 Gene

  • Nervous system(4.8)
  • Liver(2.5)
  • Skin(2)
genes like me logo Genes that share expression patterns with FMNL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FMNL2 Gene

Orthologs for FMNL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FMNL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FMNL2 31 30
  • 99.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FMNL2 31 30
  • 92.09 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FMNL2 31
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1560248 30
  • 90.4 (n)
mouse
(Mus musculus)
Mammalia Fmnl2 17 31 30
  • 90.16 (n)
dog
(Canis familiaris)
Mammalia FMNL2 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FMNL2 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves FMNL2 31 30
  • 81.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FMNL2 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fmnl2 30
  • 78.56 (n)
zebrafish
(Danio rerio)
Actinopterygii fmnl2a 31 30
  • 74.22 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32138 31 30
  • 53.74 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004805 30
  • 51.83 (n)
worm
(Caenorhabditis elegans)
Secernentea frl-1 31
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToMany
Species where no ortholog for FMNL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)

Evolution for FMNL2 Gene

ENSEMBL:
Gene Tree for FMNL2 (if available)
TreeFam:
Gene Tree for FMNL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FMNL2: view image

Paralogs for FMNL2 Gene

(3) SIMAP similar genes for FMNL2 Gene using alignment to 3 proteins:

  • FMNL2_HUMAN
  • C9IZY8_HUMAN
  • Q96CE5_HUMAN
genes like me logo Genes that share paralogs with FMNL2: view

Variants for FMNL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FMNL2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
732924 Likely Benign: not provided 152,625,430(+) G/A INTRON_VARIANT
743100 Likely Benign: not provided 152,626,725(+) T/C SYNONYMOUS_VARIANT
757631 Likely Benign: not provided 152,561,043(+) C/G INTRON_VARIANT
776344 Likely Benign: not provided 152,619,149(+) C/T MISSENSE_VARIANT
785013 Benign: not provided 152,611,598(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FMNL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for FMNL2 Gene

Variant ID Type Subtype PubMed ID
dgv2062n106 CNV deletion 24896259
dgv253e215 CNV deletion 23714750
esv1007811 CNV deletion 20482838
esv1351588 CNV deletion 17803354
esv1998324 CNV deletion 18987734
esv2436407 CNV deletion 19546169
esv2665352 CNV deletion 23128226
esv2671971 CNV deletion 23128226
esv2720967 CNV deletion 23290073
esv2720968 CNV deletion 23290073
esv2720969 CNV deletion 23290073
esv2720970 CNV deletion 23290073
esv2841570 CNV deletion 24192839
esv3338698 CNV insertion 20981092
esv3341551 CNV insertion 20981092
esv3402420 CNV insertion 20981092
esv34659 CNV loss 17911159
esv3592922 CNV loss 21293372
esv3592934 CNV loss 21293372
esv3592935 CNV loss 21293372
esv3592937 CNV loss 21293372
nsv1005012 CNV gain 25217958
nsv1127772 CNV deletion 24896259
nsv2979 CNV insertion 18451855
nsv511817 CNV loss 21212237
nsv513645 OTHER inversion 21212237
nsv7331 OTHER inversion 18451855
nsv819333 CNV loss 19587683
nsv821758 CNV loss 20364138
nsv834419 CNV gain+loss 17160897
nsv834420 CNV loss 17160897
nsv834421 CNV loss 17160897
nsv979137 CNV duplication 23825009

Variation tolerance for FMNL2 Gene

Residual Variation Intolerance Score: 14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FMNL2 Gene

Human Gene Mutation Database (HGMD)
FMNL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FMNL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FMNL2 Gene

Disorders for FMNL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FMNL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
malignant breast melanoma
  • breast melanoma
cerebral amyloid angiopathy, itm2b-related, 2
  • dementia, familial danish; fdd
- elite association - COSMIC cancer census association via MalaCards
Search FMNL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FMNL2

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 FMNL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FMNL2 Gene

Publications for FMNL2 Gene

  1. Identification and characterization of human FMNL1, FMNL2 and FMNL3 genes in silico. (PMID: 12684686) Katoh M … Katoh M (International journal of oncology 2003) 2 3 4 23 54
  2. Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration. (PMID: 21834987) Bai SW … Ridley AJ (BMC biology 2011) 3 4 54
  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 41 54
  4. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PMID: 19401682) Maestrini E … IMGSAC (Molecular psychiatry 2010) 3 41 54
  5. Formin-like 2 drives amoeboid invasive cell motility downstream of RhoC. (PMID: 20101212) Kitzing TM … Grosse R (Oncogene 2010) 3 23 54

Products for FMNL2 Gene

Sources for FMNL2 Gene