MTSS2
entrez
92154
canonical
uniprot
Q765P7
canonical
ensembl
ENSG00000132613
resolver
ensp
ENSP00000341171
resolver
genesymbol
MTSS2
resolver
genesymbol_syn
MTSS1L
resolver
hgnc
HGNC:25094
resolver
uniprot
A6NJI7
resolver
uniprot
Q9BUA8
resolver
uniprot_entry
MTSS2_HUMAN
resolver
uniprot_sec
A6NJI7
resolver
uniprot_sec
Q9BUA8
resolver
amino_acid_sequence
METAEKECGALGGLFQAIVNDMKSSYPIWEDFNSKATKLHSQLRTTVLAAVAFLDAFQKVADMATNTRGATRDIGSALTRMCMRHRSIETKLRQFTNALLESLINPLQERIEDWKKAANQLDKDHAKEYKRARHEIKKKSSDTLKLQKKARKELLGKGDLQPQLDSALQDVNDMYLLLEETEKQAVRRALIEERGRFCTFITFLQPVVNGELTMLGEITHLQGIIDDLVVLTAEPHKLPPASEQVIKDLKGSDYSWSYQTPPSSPSSSSSRKSSMCSAPSSSSSAKGGGAPWPGGAQTYSPSSTCRYRSLAQPATTTARLSSVSSHDSGFVSQDATYSKPPSPMPSDITSQKSSSSASSEASETCQSVSECSSPTSDWSKVGSHEQPSGATLQRRKDRVELLRDTEPGPASGGTLGPSGEEAPRPRMSPATIAAKHGEEVSPAASDLAMVLTRGLSLEHQKSSRDSLQYSSGYSTQTTTPSCSEDTIPSQGSDYDCYSVNGDADSEGPPEFDKSSTIPRNSNIAQNYRRLIQTKRPASTAGLPTAGLPTATGLPSGAPPGVATIRRTPSTKPTVRRALSSAGPIPIRPPIVPVKTPTVPDSPGYMGPTRAGSEECVFYTDETASPLAPDLAKASPKRLSLPNTAWGSPSPEAAGYPGAGAEDEQQQLAANRHSLVEKLGELVAGAHALGEGQFPFPTALSATPTEETPTPPPAATSDPPAEDMLVAIRRGVRLRRTVTNDRSAPRIL
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with ocular anomalies and distinctive facial features (IDDOF) [MIM:620086]: An autosomal dominant disorder characterized by global developmental delay, mild intellectual disability, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features including long, upslanting palpebral fissures, bitemporal narrowing of the forehead, arched eyebrows, and epicanthal folds. {ECO:0000269|PubMed:36067766}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in plasma membrane dynamics. Potentiated PDGF-mediated formation of membrane ruffles and lamellipodia in fibroblasts, acting via RAC1 activation (PubMed:14752106). May function in actin bundling (PubMed:14752106). {ECO:0000269|PubMed:14752106}.
uniprot
proteins
mass_dalton
79929
uniprot
proteins
mutagenesis
MUTAGEN 115; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-116, D-123, D-127, D-130, D-137, D-138, D-139, D-145, D-148, D-149, D-152 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 116; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-123, D-127, D-130, D-137, D-138, D-139, D-145, D-148, D-149, D-152 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 123; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-116, D-127, D-130, D-137, D-138, D-139, D-145, D-148, D-149, D-152 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 127; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-116, D-123, D-130, D-137, D-138, D-139, D-145, D-148, D-149, D-152 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 130; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-116, D-123, D-127, D-137, D-138, D-139, D-145, D-148, D-149, D-152 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 137; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-116, D-123, D-127, D-130, D-138, D-139, D-145, D-148, D-149, D-152 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 138; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-116, D-123, D-127, D-130, D-137, D-139, D-145, D-148, D-149, D-152 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 139; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-116, D-123, D-127, D-130, D-137, D-138, D-145, D-148, D-149, D-152 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 145; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-116, D-123, D-127, D-130, D-137, D-138, D-139, D-148, D-149, D-152 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 148; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-116, D-123, D-127, D-130, D-137, D-138, D-139, D-145, D-149, D-152 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 149; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-116, D-123, D-127, D-130, D-137, D-138, D-139, D-145, D-148, D-152 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 152; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-116, D-123, D-127, D-130, D-137, D-138, D-139, D-145, D-148, D-149 and D-157."; /evidence="ECO:0000269|PubMed:20875796"; MUTAGEN 157; /note="K->D: Marked reduction in RAC1-binding, loss of increase in RAC1 activity and of dorsal ruffles formation in response to PDGF treatment; when associated with D-115, D-116, D-123, D-127, D-130, D-137, D-138, D-139, D-145, D-148, D-149 and D-152."; /evidence="ECO:0000269|PubMed:20875796
uniprot
proteins
protein_family
MTSS family
uniprot
proteins
pubmed
14752106
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20875796
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
36067766
uniprot
proteins
pubmed
36332614
uniprot
proteins
sequence_length
747
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20875796}. Cell projection, ruffle {ECO:0000269|PubMed:20875796}. Note=Colocalizes with RAC1 within membrane ruffles. {ECO:0000269|PubMed:20875796}.
uniprot
proteins