FMN2
Formin-2
Also known as: FMN2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NZ56
- Gene
- FMN2
- Ensembl
- ENSG00000155816
- Chromosome
- 1
- Canonical length
- 1722 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Actin filaments
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
1722 residues, UniProt reviewed canonical sequence.
>Q9NZ56|FMN2
1 MGNQDGKLKR SAGDALHEGG GGAEDALGPR DVEATKKGSG GKKALGKHGK GGGGGGGGGE
61 SGKKKSKSDS RASVFSNLRI RKNLSKGKGA GGSREDVLDS QALQTGELDS AHSLLTKTPD
121 LSLSADEAGL SDTECADPFE VTGPGGPGPA EARVGGRPIA EDVETAAGAQ DGQRTSSGSD
181 TDIYSFHSAT EQEDLLSDIQ QAIRLQQQQQ QQLQLQLQQQ QQQQQLQGAE EPAAPPTAVS
241 PQPGAFLGLD RFLLGPSGGA GEAPGSPDTE QALSALSDLP ESLAAEPREP QQPPSPGGLP
301 VSEAPSLPAA QPAAKDSPSS TAFPFPEAGP GEEAAGAPVR GAGDTDEEGE EDAFEDAPRG
361 SPGEEWAPEV GEDAPQRLGE EPEEEAQGPD APAAASLPGS PAPSQRCFKP YPLITPCYIK
421 TTTRQLSSPN HSPSQSPNQS PRIKRRPEPS LSRGSRTALA SVAAPAKKHR ADGGLAAGLS
481 RSADWTEELG ARTPRVGGSA HLLERGVASD SGGGVSPALA AKASGAPAAA DGFQNVFTGR
541 TLLEKLFSQQ ENGPPEEAEK FCSRIIAMGL LLPFSDCFRE PCNQNAQTNA ASFDQDQLYT
601 WAAVSQPTHS LDYSEGQFPR RVPSMGPPSK PPDEEHRLED AETESQSAVS ETPQKRSDAV
661 QKEVVDMKSE GQATVIQQLE QTIEDLRTKI AELERQYPAL DTEVASGHQG LENGVTASGD
721 VCLEALRLEE KEVRHHRILE AKSIQTSPTE EGGVLTLPPV DGLPGRPPCP PGAESGPQTK
781 FCSEISLIVS PRRISVQLDS HQPTQSISQP PPPPSLLWSA GQGQPGSQPP HSISTEFQTS
841 HEHSVSSAFK NSCNIPSPPP LPCTESSSSM PGLGMVPPPP PPLPGMTVPT LPSTAIPQPP
901 PLQGTEMLPP PPPPLPGAGI PPPPPLPGAG ILPLPPLPGA GIPPPPPLPG AAIPPPPPLP
961 GAGIPLPPPL PGAGIPPPPP LPGAGIPPPP PLPGAGIPPP PPLPGAGIPP PPPLPGAGIP
1021 PPPPLPGAGI PPPPPLPGAG IPPPPPLPGA GIPPPPPLPG AGIPPPPPLP GAGIPPPPPL
1081 PGAGIPPPPP LPGAGIPPPP PLPGVGIPPP PPLPGAGIPP PPPLPGAGIP PPPPLPGAGI
1141 PPPPPLPRVG IPPPPPLPGA GIPPPPPLPG AGIPPPPPLP GVGIPPPPPL PGVGIPPPPP
1201 LPGAGIPPPP PLPGMGIPPA PAPPLPPPGT GIPPPPLLPV SGPPLLPQVG SSTLPTPQVC
1261 GFLPPPLPSG LFGLGMNQDK GSRKQPIEPC RPMKPLYWTR IQLHSKRDSS TSLIWEKIEE
1321 PSIDCHEFEE LFSKTAVKER KKPISDTISK TKAKQVVKLL SNKRSQAVGI LMSSLHLDMK
1381 DIQHAVVNLD NSVVDLETLQ ALYENRAQSD ELEKIEKHGR SSKDKENAKS LDKPEQFLYE
1441 LSLIPNFSER VFCILFQSTF SESICSIRRK LELLQKLCET LKNGPGVMQV LGLVLAFGNY
1501 MNGGNKTRGQ ADGFGLDILP KLKDVKSSDN SRSLLSYIVS YYLRNFDEDA GKEQCLFPLP
1561 EPQDLFQASQ MKFEDFQKDL RKLKKDLKAC EVEAGKVYQV SSKEHMQPFK ENMEQFIIQA
1621 KIDQEAEENS LTETHKCFLE TTAYFFMKPK LGEKEVSPNA FFSIWHEFSS DFKDFWKKEN
1681 KLLLQERVKE AEEVCRQKKG KSLYKIKPRH DSGIKAKISM KTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FMN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.61
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 36 nTPM
- amygdala: 31 nTPM
- basal ganglia: 28 nTPM
- hypothalamus: 25 nTPM
- midbrain: 23 nTPM
- hippocampal formation: 23 nTPM
Single-cell type
- podocytes: 1,884 nCPM
- retinal horizontal cells: 1,799 nCPM
- bergmann glia: 1,388 nCPM
- astrocytes: 1,312 nCPM
- thyrotrophs: 824 nCPM
- ependymal cells: 799 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 154 nTPM
- thalamus: 147 nTPM
- midbrain: 126 nTPM
- white matter: 123 nTPM
- amygdala: 121 nTPM
- basal ganglia: 111 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FMN2.
Disease | AllUniProt
Conditions FMN2 is implicated in, by any mechanism.
- Intellectual developmental disorder, autosomal recessive 47 (MRT47) MIM:616193
Disease | GeneticClinVar
18 pathogenic / likely-pathogenic of 605 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual disability, autosomal recessive 47
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.27
- gnomAD pLI
- 1
- gnomAD missense Z
- 0.32
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin cytoskeleton organization
- cell migration
- cellular response to hypoxia
- DNA damage response
- establishment of meiotic spindle localization
- formin-nucleated actin cable assembly
- intracellular signal transduction
- intracellular transport
- negative regulation of apoptotic process
- negative regulation of protein catabolic process
- oogenesis
- polar body extrusion after meiotic divisions
- positive regulation of double-strand break repair
- protein transport
- vesicle-mediated transport
- homologous chromosome movement towards spindle pole in meiosis I anaphase
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FMN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FMN2 as an antibody target. Whether an autoantibody or antibody against FMN2 could matter depends on whether native FMN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FMN2 is annotated at the cell surface, where native FMN2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label FMN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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