FMN2
entrez
56776
canonical
uniprot
Q9NZ56
canonical
ensembl
ENSG00000155816
resolver
ensp
ENSP00000318884
resolver
genesymbol
FMN2
resolver
hgnc
HGNC:14074
resolver
uniprot
B0QZA7
resolver
uniprot
B4DP05
resolver
uniprot
Q59GF6
resolver
uniprot
Q5VU37
resolver
uniprot
Q9HBL1
resolver
uniprot
Q9NZ55
resolver
uniprot_entry
FMN2_HUMAN
resolver
uniprot_entry
Q9HBL1_HUMAN
resolver
uniprot_sec
B0QZA7
resolver
uniprot_sec
B4DP05
resolver
uniprot_sec
Q59GF6
resolver
uniprot_sec
Q5VU37
resolver
uniprot_sec
Q9NZ55
resolver
amino_acid_sequence
MGNQDGKLKRSAGDALHEGGGGAEDALGPRDVEATKKGSGGKKALGKHGKGGGGGGGGGESGKKKSKSDSRASVFSNLRIRKNLSKGKGAGGSREDVLDSQALQTGELDSAHSLLTKTPDLSLSADEAGLSDTECADPFEVTGPGGPGPAEARVGGRPIAEDVETAAGAQDGQRTSSGSDTDIYSFHSATEQEDLLSDIQQAIRLQQQQQQQLQLQLQQQQQQQQLQGAEEPAAPPTAVSPQPGAFLGLDRFLLGPSGGAGEAPGSPDTEQALSALSDLPESLAAEPREPQQPPSPGGLPVSEAPSLPAAQPAAKDSPSSTAFPFPEAGPGEEAAGAPVRGAGDTDEEGEEDAFEDAPRGSPGEEWAPEVGEDAPQRLGEEPEEEAQGPDAPAAASLPGSPAPSQRCFKPYPLITPCYIKTTTRQLSSPNHSPSQSPNQSPRIKRRPEPSLSRGSRTALASVAAPAKKHRADGGLAAGLSRSADWTEELGARTPRVGGSAHLLERGVASDSGGGVSPALAAKASGAPAAADGFQNVFTGRTLLEKLFSQQENGPPEEAEKFCSRIIAMGLLLPFSDCFREPCNQNAQTNAASFDQDQLYTWAAVSQPTHSLDYSEGQFPRRVPSMGPPSKPPDEEHRLEDAETESQSAVSETPQKRSDAVQKEVVDMKSEGQATVIQQLEQTIEDLRTKIAELERQYPALDTEVASGHQGLENGVTASGDVCLEALRLEEKEVRHHRILEAKSIQTSPTEEGGVLTLPPVDGLPGRPPCPPGAESGPQTKFCSEISLIVSPRRISVQLDSHQPTQSISQPPPPPSLLWSAGQGQPGSQPPHSISTEFQTSHEHSVSSAFKNSCNIPSPPPLPCTESSSSMPGLGMVPPPPPPLPGMTVPTLPSTAIPQPPPLQGTEMLPPPPPPLPGAGIPPPPPLPGAGILPLPPLPGAGIPPPPPLPGAAIPPPPPLPGAGIPLPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGVGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPRVGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGVGIPPPPPLPGVGIPPPPPLPGAGIPPPPPLPGMGIPPAPAPPLPPPGTGIPPPPLLPVSGPPLLPQVGSSTLPTPQVCGFLPPPLPSGLFGLGMNQDKGSRKQPIEPCRPMKPLYWTRIQLHSKRDSSTSLIWEKIEEPSIDCHEFEELFSKTAVKERKKPISDTISKTKAKQVVKLLSNKRSQAVGILMSSLHLDMKDIQHAVVNLDNSVVDLETLQALYENRAQSDELEKIEKHGRSSKDKENAKSLDKPEQFLYELSLIPNFSERVFCILFQSTFSESICSIRRKLELLQKLCETLKNGPGVMQVLGLVLAFGNYMNGGNKTRGQADGFGLDILPKLKDVKSSDNSRSLLSYIVSYYLRNFDEDAGKEQCLFPLPEPQDLFQASQMKFEDFQKDLRKLKKDLKACEVEAGKVYQVSSKEHMQPFKENMEQFIIQAKIDQEAEENSLTETHKCFLETTAYFFMKPKLGEKEVSPNAFFSIWHEFSSDFKDFWKKENKLLLQERVKEAEEVCRQKKGKSLYKIKPRHDSGIKAKISMKT
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization (PubMed:21730168, PubMed:22330775). Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2 (PubMed:21730168, PubMed:22330775). 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). {ECO:0000250|UniProtKB:Q9JL04, ECO:0000269|PubMed:21730168, ECO:0000269|PubMed:22330775, ECO:0000269|PubMed:23375502, ECO:0000269|PubMed:26287480}.
uniprot
proteins
mass_dalton
180106
uniprot
proteins
mutagenesis
MUTAGEN 444..446; /note="KRR->AAA: Blocks accumulation in the nucleus in response to DNA damage."; /evidence="ECO:0000269|PubMed:26287480"; MUTAGEN 1715; /note="K->A,E: Abolishes interaction with SPIRE1."; /evidence="ECO:0000269|PubMed:21730168"; MUTAGEN 1717; /note="K->A: Strongly reduces interaction with SPIRE1."; /evidence="ECO:0000269|PubMed:21730168"; MUTAGEN 1721; /note="K->A,E: Strongly reduces interaction with SPIRE1."; /evidence="ECO:0000269|PubMed:21730168
uniprot
proteins
protein_family
Cappuccino subfamily
uniprot
proteins
protein_family
Formin homology family
uniprot
proteins
pubmed
10781961
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
20082305
uniprot
proteins
pubmed
21705804
uniprot
proteins
pubmed
21730168
uniprot
proteins
pubmed
22330775
uniprot
proteins
pubmed
23375502
uniprot
proteins
pubmed
25480035
uniprot
proteins
pubmed
26287480
uniprot
proteins
sequence_length
1722
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:20082305}. Cytoplasm, cytosol {ECO:0000269|PubMed:20082305}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q9JL04}. Nucleus {ECO:0000269|PubMed:26287480}. Nucleus, nucleolus {ECO:0000269|PubMed:23375502}. Cell membrane {ECO:0000250|UniProtKB:Q9JL04}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JL04}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9JL04}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:Q9JL04}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JL04}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9JL04}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q9JL04}. 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}.
uniprot
proteins