Human Gene FMN2 (ENST00000319653.14) from GENCODE V44
  Description: Homo sapiens formin 2 (FMN2), transcript variant 2, mRNA. (from RefSeq NM_020066)
RefSeq Summary (NM_020066): 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].
Gencode Transcript: ENST00000319653.14
Gencode Gene: ENSG00000155816.21
Transcript (Including UTRs)
   Position: hg38 chr1:240,091,883-240,475,187 Size: 383,305 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr1:240,092,110-240,474,154 Size: 382,045 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:240,091,883-240,475,187)mRNA (may differ from genome)Protein (1722 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FMN2_HUMAN
DESCRIPTION: RecName: Full=Formin-2;
TISSUE SPECIFICITY: Expressed almost exclusively in the developing and mature central nervous system.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the formin homology family. Cappuccino subfamily.
SIMILARITY: Contains 1 FH1 (formin homology 1) domain.
SIMILARITY: Contains 1 FH2 (formin homology 2) domain.
SEQUENCE CAUTION: Sequence=AAF72884.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FMN2
Diseases sorted by gene-association score: mental retardation, autosomal recessive 47* (1019), autosomal recessive non-syndromic intellectual disability* (88), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.42 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 96.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -119.20227-0.525 Picture PostScript Text
3' UTR -226.201033-0.219 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003104 - Actin-bd_FH2/DRF_autoreg
IPR000591 - DEP_dom
IPR015425 - FH2_actin-bd
IPR009408 - Formin_homology_1

Pfam Domains:
PF06346 - Formin Homology Region 1
PF02181 - Formin Homology 2 Domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2YLE - X-ray MuPIT 3R7G - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NZ56
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI EnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0003779 actin binding

Biological Process:
GO:0006974 cellular response to DNA damage stimulus
GO:0007275 multicellular organism development
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0016344 meiotic chromosome movement towards spindle pole
GO:0035556 intracellular signal transduction
GO:0040038 polar body extrusion after meiotic divisions
GO:0042177 negative regulation of protein catabolic process
GO:0043066 negative regulation of apoptotic process
GO:0046907 intracellular transport
GO:0048477 oogenesis
GO:0051017 actin filament bundle assembly
GO:0051295 establishment of meiotic spindle localization
GO:0051758 homologous chromosome movement towards spindle pole involved in homologous chromosome segregation
GO:0070649 formin-nucleated actin cable assembly
GO:0071456 cellular response to hypoxia

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0005938 cell cortex
GO:0016020 membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0048471 perinuclear region of cytoplasm
GO:0015629 actin cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AB209153 - Homo sapiens mRNA for formin 2 variant protein.
AF218941 - Homo sapiens clone W39395 formin 2-like protein mRNA, partial cds.
AK297755 - Homo sapiens cDNA FLJ58678 complete cds, highly similar to Formin-2.
AK298141 - Homo sapiens cDNA FLJ60748 complete cds, highly similar to Homo sapiens formin 2 (FMN2), mRNA.
AK297716 - Homo sapiens cDNA FLJ55858 complete cds, highly similar to Homo sapiens formin 2 (FMN2), mRNA.
AF218942 - Homo sapiens formin 2-like protein mRNA, partial cds.
AF225426 - Homo sapiens HT016 mRNA, complete cds.
BC014364 - Homo sapiens formin 2, mRNA (cDNA clone IMAGE:3932604), partial cds.
LF205475 - JP 2014500723-A/12978: Polycomb-Associated Non-Coding RNAs.
MA441052 - JP 2018138019-A/12978: Polycomb-Associated Non-Coding RNAs.
JD371454 - Sequence 352478 from Patent EP1572962.
LF320841 - JP 2014500723-A/128344: Polycomb-Associated Non-Coding RNAs.
MA556418 - JP 2018138019-A/128344: Polycomb-Associated Non-Coding RNAs.
JD157579 - Sequence 138603 from Patent EP1572962.
JD067728 - Sequence 48752 from Patent EP1572962.
JD478164 - Sequence 459188 from Patent EP1572962.
JD498319 - Sequence 479343 from Patent EP1572962.
JD179227 - Sequence 160251 from Patent EP1572962.
JD157623 - Sequence 138647 from Patent EP1572962.
JD325287 - Sequence 306311 from Patent EP1572962.
BC112335 - Homo sapiens formin 2, mRNA (cDNA clone IMAGE:40037626), complete cds.
BC112361 - Homo sapiens formin 2, mRNA (cDNA clone IMAGE:40037625), complete cds.
JD309363 - Sequence 290387 from Patent EP1572962.
JD037254 - Sequence 18278 from Patent EP1572962.
JD184761 - Sequence 165785 from Patent EP1572962.
JD284459 - Sequence 265483 from Patent EP1572962.
JD358067 - Sequence 339091 from Patent EP1572962.
JD419915 - Sequence 400939 from Patent EP1572962.
JD245215 - Sequence 226239 from Patent EP1572962.
JD306690 - Sequence 287714 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04320 - Dorso-ventral axis formation

-  Other Names for This Gene
  Alternate Gene Symbols: B0QZA7, ENST00000319653.1, ENST00000319653.10, ENST00000319653.11, ENST00000319653.12, ENST00000319653.13, ENST00000319653.2, ENST00000319653.3, ENST00000319653.4, ENST00000319653.5, ENST00000319653.6, ENST00000319653.7, ENST00000319653.8, ENST00000319653.9, FMN2_HUMAN, NM_020066, Q59GF6, Q5VU37, Q9NZ55, Q9NZ56, uc010pyd.1, uc010pyd.2, uc010pyd.3, uc010pyd.4
UCSC ID: ENST00000319653.14
RefSeq Accession: NM_020066
Protein: Q9NZ56 (aka FMN2_HUMAN)
CCDS: CCDS31069.2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.