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Protein

Formin-2

Gene

FMN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity4 Publications

GO - Molecular functioni

  • actin binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionActin-binding, Developmental protein
Biological processDNA damage, Protein transport, Stress response, Transport

Enzyme and pathway databases

SignaLinkiQ9NZ56

Names & Taxonomyi

Protein namesi
Recommended name:
Formin-2
Gene namesi
Name:FMN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000155816.19
HGNCiHGNC:14074 FMN2
MIMi606373 gene
neXtProtiNX_Q9NZ56

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 47 (MRT47)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:616193

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi444 – 446KRR → AAA: Blocks accumulation in the nucleus in response to DNA damage. 1 Publication3
Mutagenesisi1715K → A or E: Abolishes interaction with SPIRE1. 1 Publication1
Mutagenesisi1717K → A: Strongly reduces interaction with SPIRE1. 1 Publication1
Mutagenesisi1721K → A or E: Strongly reduces interaction with SPIRE1. 1 Publication1

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi56776
MalaCardsiFMN2
MIMi616193 phenotype
OpenTargetsiENSG00000155816
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
PharmGKBiPA28185

Polymorphism and mutation databases

BioMutaiFMN2
DMDMi166215083

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001948881 – 1722Formin-2Add BLAST1722

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei93PhosphoserineBy similarity1
Modified residuei482PhosphoserineBy similarity1
Modified residuei516PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9NZ56
PaxDbiQ9NZ56
PeptideAtlasiQ9NZ56
PRIDEiQ9NZ56
ProteomicsDBi83328

PTM databases

iPTMnetiQ9NZ56
PhosphoSitePlusiQ9NZ56

Expressioni

Tissue specificityi

Expressed almost exclusively in the developing and mature central nervous system.1 Publication

Inductioni

Up-regulated in response to cellular stress, hypoxia and DNA damage via NF-kappa-B.1 Publication

Gene expression databases

BgeeiENSG00000155816 Expressed in 130 organ(s), highest expression level in dorsolateral prefrontal cortex
CleanExiHS_FMN2
ExpressionAtlasiQ9NZ56 baseline and differential
GenevisibleiQ9NZ56 HS

Organism-specific databases

HPAiHPA050649

Interactioni

Subunit structurei

Interacts with SPIRE1 (PubMed:21705804, PubMed:21730168). Binds actin (PubMed:20082305). Interacts with CDKN1A (PubMed:23375502).4 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121199, 16 interactors
STRINGi9606.ENSP00000318884

Structurei

Secondary structure

11722
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9NZ56
SMRiQ9NZ56
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini758 – 1268FH1Add BLAST511
Domaini1283 – 1698FH2PROSITE-ProRule annotationAdd BLAST416

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1715 – 1722Important for interaction with SPIRE18

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili193 – 231Sequence analysisAdd BLAST39
Coiled coili670 – 706Sequence analysisAdd BLAST37
Coiled coili1567 – 1597Sequence analysisAdd BLAST31
Coiled coili1677 – 1699Sequence analysisAdd BLAST23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi200 – 227Gln-richAdd BLAST28
Compositional biasi758 – 1268Pro-richAdd BLAST511

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410ISMY Eukaryota
ENOG410XQWC LUCA
GeneTreeiENSGT00870000136417
HOGENOMiHOG000112618
HOVERGENiHBG107923
InParanoidiQ9NZ56
KOiK02184
OMAiPCNQNAQ
OrthoDBiEOG091G0BH5
PhylomeDBiQ9NZ56
TreeFamiTF326072

Family and domain databases

InterProiView protein in InterPro
IPR000591 DEP_dom
IPR015425 FH2_Formin
IPR009408 Formin_homology_1
PfamiView protein in Pfam
PF06346 Drf_FH1, 3 hits
PF02181 FH2, 1 hit
SMARTiView protein in SMART
SM00498 FH2, 1 hit
PROSITEiView protein in PROSITE
PS51444 FH2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NZ56-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGNQDGKLKR SAGDALHEGG GGAEDALGPR DVEATKKGSG GKKALGKHGK
60 70 80 90 100
GGGGGGGGGE SGKKKSKSDS RASVFSNLRI RKNLSKGKGA GGSREDVLDS
110 120 130 140 150
QALQTGELDS AHSLLTKTPD LSLSADEAGL SDTECADPFE VTGPGGPGPA
160 170 180 190 200
EARVGGRPIA EDVETAAGAQ DGQRTSSGSD TDIYSFHSAT EQEDLLSDIQ
210 220 230 240 250
QAIRLQQQQQ QQLQLQLQQQ QQQQQLQGAE EPAAPPTAVS PQPGAFLGLD
260 270 280 290 300
RFLLGPSGGA GEAPGSPDTE QALSALSDLP ESLAAEPREP QQPPSPGGLP
310 320 330 340 350
VSEAPSLPAA QPAAKDSPSS TAFPFPEAGP GEEAAGAPVR GAGDTDEEGE
360 370 380 390 400
EDAFEDAPRG SPGEEWAPEV GEDAPQRLGE EPEEEAQGPD APAAASLPGS
410 420 430 440 450
PAPSQRCFKP YPLITPCYIK TTTRQLSSPN HSPSQSPNQS PRIKRRPEPS
460 470 480 490 500
LSRGSRTALA SVAAPAKKHR ADGGLAAGLS RSADWTEELG ARTPRVGGSA
510 520 530 540 550
HLLERGVASD SGGGVSPALA AKASGAPAAA DGFQNVFTGR TLLEKLFSQQ
560 570 580 590 600
ENGPPEEAEK FCSRIIAMGL LLPFSDCFRE PCNQNAQTNA ASFDQDQLYT
610 620 630 640 650
WAAVSQPTHS LDYSEGQFPR RVPSMGPPSK PPDEEHRLED AETESQSAVS
660 670 680 690 700
ETPQKRSDAV QKEVVDMKSE GQATVIQQLE QTIEDLRTKI AELERQYPAL
710 720 730 740 750
DTEVASGHQG LENGVTASGD VCLEALRLEE KEVRHHRILE AKSIQTSPTE
760 770 780 790 800
EGGVLTLPPV DGLPGRPPCP PGAESGPQTK FCSEISLIVS PRRISVQLDS
810 820 830 840 850
HQPTQSISQP PPPPSLLWSA GQGQPGSQPP HSISTEFQTS HEHSVSSAFK
860 870 880 890 900
NSCNIPSPPP LPCTESSSSM PGLGMVPPPP PPLPGMTVPT LPSTAIPQPP
910 920 930 940 950
PLQGTEMLPP PPPPLPGAGI PPPPPLPGAG ILPLPPLPGA GIPPPPPLPG
960 970 980 990 1000
AAIPPPPPLP GAGIPLPPPL PGAGIPPPPP LPGAGIPPPP PLPGAGIPPP
1010 1020 1030 1040 1050
PPLPGAGIPP PPPLPGAGIP PPPPLPGAGI PPPPPLPGAG IPPPPPLPGA
1060 1070 1080 1090 1100
GIPPPPPLPG AGIPPPPPLP GAGIPPPPPL PGAGIPPPPP LPGAGIPPPP
1110 1120 1130 1140 1150
PLPGVGIPPP PPLPGAGIPP PPPLPGAGIP PPPPLPGAGI PPPPPLPRVG
1160 1170 1180 1190 1200
IPPPPPLPGA GIPPPPPLPG AGIPPPPPLP GVGIPPPPPL PGVGIPPPPP
1210 1220 1230 1240 1250
LPGAGIPPPP PLPGMGIPPA PAPPLPPPGT GIPPPPLLPV SGPPLLPQVG
1260 1270 1280 1290 1300
SSTLPTPQVC GFLPPPLPSG LFGLGMNQDK GSRKQPIEPC RPMKPLYWTR
1310 1320 1330 1340 1350
IQLHSKRDSS TSLIWEKIEE PSIDCHEFEE LFSKTAVKER KKPISDTISK
1360 1370 1380 1390 1400
TKAKQVVKLL SNKRSQAVGI LMSSLHLDMK DIQHAVVNLD NSVVDLETLQ
1410 1420 1430 1440 1450
ALYENRAQSD ELEKIEKHGR SSKDKENAKS LDKPEQFLYE LSLIPNFSER
1460 1470 1480 1490 1500
VFCILFQSTF SESICSIRRK LELLQKLCET LKNGPGVMQV LGLVLAFGNY
1510 1520 1530 1540 1550
MNGGNKTRGQ ADGFGLDILP KLKDVKSSDN SRSLLSYIVS YYLRNFDEDA
1560 1570 1580 1590 1600
GKEQCLFPLP EPQDLFQASQ MKFEDFQKDL RKLKKDLKAC EVEAGKVYQV
1610 1620 1630 1640 1650
SSKEHMQPFK ENMEQFIIQA KIDQEAEENS LTETHKCFLE TTAYFFMKPK
1660 1670 1680 1690 1700
LGEKEVSPNA FFSIWHEFSS DFKDFWKKEN KLLLQERVKE AEEVCRQKKG
1710 1720
KSLYKIKPRH DSGIKAKISM KT
Length:1,722
Mass (Da):180,106
Last modified:January 15, 2008 - v4
Checksum:i26525AC7868A949C
GO
Isoform 2 (identifier: Q9NZ56-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2-1405: Missing.

Note: No experimental confirmation available.
Show »
Length:318
Mass (Da):36,871
Checksum:i3FA270C7B4D1E07A
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MTF8A0A0A0MTF8_HUMAN
Formin-2
FMN2
198Annotation score:
B0QZD5B0QZD5_HUMAN
Formin-2
FMN2
99Annotation score:
B0QZA8B0QZA8_HUMAN
Formin-2
FMN2
228Annotation score:
Q2M1H5Q2M1H5_HUMAN
FMN2 protein
FMN2
42Annotation score:

Sequence cautioni

The sequence AAF72884 differs from that shown. Contaminating sequence. Sequence of unknown origin in the C-terminal part.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti644E → EDDGE in BAD92390 (Ref. 3) Curated1
Sequence conflicti768P → T in BAD92390 (Ref. 3) Curated1
Sequence conflicti1426 – 1427EN → TR in AAF72885 (PubMed:10781961).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0592901148R → G1 PublicationCorresponds to variant dbSNP:rs12732924Ensembl.1
Natural variantiVAR_0490941291R → G. Corresponds to variant dbSNP:rs12732924Ensembl.1
Natural variantiVAR_0339321468R → H1 PublicationCorresponds to variant dbSNP:rs3795677Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0560952 – 1405Missing in isoform 2. 1 PublicationAdd BLAST1404

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK298141 mRNA Translation: BAG60417.1
AL359918 Genomic DNA No translation available.
AL513342 Genomic DNA No translation available.
AL590490 Genomic DNA No translation available.
AL646016 Genomic DNA No translation available.
AB209153 mRNA Translation: BAD92390.1
AF218941 mRNA Translation: AAF72884.1 Sequence problems.
AF218942 mRNA Translation: AAF72885.1
CCDSiCCDS31069.2 [Q9NZ56-1]
RefSeqiNP_001292353.1, NM_001305424.1
NP_064450.3, NM_020066.4 [Q9NZ56-1]
UniGeneiHs.24889

Genome annotation databases

EnsembliENST00000319653; ENSP00000318884; ENSG00000155816 [Q9NZ56-1]
GeneIDi56776
KEGGihsa:56776
UCSCiuc010pyd.3 human [Q9NZ56-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK298141 mRNA Translation: BAG60417.1
AL359918 Genomic DNA No translation available.
AL513342 Genomic DNA No translation available.
AL590490 Genomic DNA No translation available.
AL646016 Genomic DNA No translation available.
AB209153 mRNA Translation: BAD92390.1
AF218941 mRNA Translation: AAF72884.1 Sequence problems.
AF218942 mRNA Translation: AAF72885.1
CCDSiCCDS31069.2 [Q9NZ56-1]
RefSeqiNP_001292353.1, NM_001305424.1
NP_064450.3, NM_020066.4 [Q9NZ56-1]
UniGeneiHs.24889

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YLEX-ray1.80B1694-1722[»]
3R7GX-ray2.20B1701-1722[»]
ProteinModelPortaliQ9NZ56
SMRiQ9NZ56
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121199, 16 interactors
STRINGi9606.ENSP00000318884

PTM databases

iPTMnetiQ9NZ56
PhosphoSitePlusiQ9NZ56

Polymorphism and mutation databases

BioMutaiFMN2
DMDMi166215083

Proteomic databases

MaxQBiQ9NZ56
PaxDbiQ9NZ56
PeptideAtlasiQ9NZ56
PRIDEiQ9NZ56
ProteomicsDBi83328

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319653; ENSP00000318884; ENSG00000155816 [Q9NZ56-1]
GeneIDi56776
KEGGihsa:56776
UCSCiuc010pyd.3 human [Q9NZ56-1]

Organism-specific databases

CTDi56776
DisGeNETi56776
EuPathDBiHostDB:ENSG00000155816.19
GeneCardsiFMN2
H-InvDBiHIX0021237
HGNCiHGNC:14074 FMN2
HPAiHPA050649
MalaCardsiFMN2
MIMi606373 gene
616193 phenotype
neXtProtiNX_Q9NZ56
OpenTargetsiENSG00000155816
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
PharmGKBiPA28185
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ISMY Eukaryota
ENOG410XQWC LUCA
GeneTreeiENSGT00870000136417
HOGENOMiHOG000112618
HOVERGENiHBG107923
InParanoidiQ9NZ56
KOiK02184
OMAiPCNQNAQ
OrthoDBiEOG091G0BH5
PhylomeDBiQ9NZ56
TreeFamiTF326072

Enzyme and pathway databases

SignaLinkiQ9NZ56

Miscellaneous databases

ChiTaRSiFMN2 human
GenomeRNAii56776
PROiPR:Q9NZ56
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000155816 Expressed in 130 organ(s), highest expression level in dorsolateral prefrontal cortex
CleanExiHS_FMN2
ExpressionAtlasiQ9NZ56 baseline and differential
GenevisibleiQ9NZ56 HS

Family and domain databases

InterProiView protein in InterPro
IPR000591 DEP_dom
IPR015425 FH2_Formin
IPR009408 Formin_homology_1
PfamiView protein in Pfam
PF06346 Drf_FH1, 3 hits
PF02181 FH2, 1 hit
SMARTiView protein in SMART
SM00498 FH2, 1 hit
PROSITEiView protein in PROSITE
PS51444 FH2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFMN2_HUMAN
AccessioniPrimary (citable) accession number: Q9NZ56
Secondary accession number(s): B0QZA7
, B4DP05, Q59GF6, Q5VU37, Q9NZ55
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 15, 2008
Last modified: November 7, 2018
This is version 150 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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