Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	92154
Gene name Gene Name - the full gene name approved by the HGNC.	MTSS I-BAR domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MTSS2
Synonyms (NCBI Gene) Gene synonyms aliases	ABBA, ABBA-1, ABBA1, IDDOF, MTSS1L
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q22.1

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SNP ID	Visualize variation	Clinical significance	Consequence
rs531163149	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IEA
GO:0003785	Function	Actin monomer binding	IEA
GO:0005096	Function	GTPase activator activity	IDA	20875796
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005543	Function	Phospholipid binding	IBA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007009	Process	Plasma membrane organization	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IBA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0030027	Component	Lamellipodium	IEA
GO:0030031	Process	Cell projection assembly	IBA
GO:0030864	Component	Cortical actin cytoskeleton	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	20875796
GO:0032587	Component	Ruffle membrane	IDA	20875796
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	IDA	20875796
GO:0042995	Component	Cell projection	IEA
GO:0061024	Process	Membrane organization	IBA
GO:0061024	Process	Membrane organization	IEA
GO:0090630	Process	Activation of GTPase activity	IDA	20875796
GO:0097581	Process	Lamellipodium organization	IEA

MIM	HGNC	e!Ensembl
616951	25094	ENSG00000132613

Protein

UniProt ID

Q765P7

Protein name

Protein MTSS 2 (Actin-bundling with BAIAP2 homology protein 1) (ABBA-1) (MTSS1-like protein)

Protein 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:14

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08397	IMD	15 → 239	IRSp53/MIM homology domain	Family

Sequence

METAEKECGALGGLFQAIVNDMKSSYPIWEDFNSKATKLHSQLRTTVLAAVAFLDAFQKV
ADMATNTRGATRDIGSALTRMCMRHRSIETKLRQFTNALLESLINPLQERIEDWKKAANQ
LDKDHAKEYKRARHEIKKKSSDTLKLQKKARKELLGKGDLQPQLDSALQDVNDMYLLLEE
TEKQAVRRALIEERGRFCTFITFLQPVVNGELTMLGEITHLQGIIDDLVVLTAEPHKLPP
ASEQVIKDLKGSDYSWSYQTPPSSPSSSSSRKSSMCSAPSSSSSAKGGGAPWPGGAQTYS
PSSTCRYRSLAQPATTTARLSSVSSHDSGFVSQDATYSKPPSPMPSDITSQKSSSSASSE
ASETCQSVSECSSPTSDWSKVGSHEQPSGATLQRRKDRVELLRDTEPGPASGGTLGPSGE
EAPRPRMSPATIAAKHGEEVSPAASDLAMVLTRGLSLEHQKSSRDSLQYSSGYSTQTTTP
SCSEDTIPSQGSDYDCYSVNGDADSEGPPEFDKSSTIPRNSNIAQNYRRLIQTKRPASTA
GLPTAGLPTATGLPSGAPPGVATIRRTPSTKPTVRRALSSAGPIPIRPPIVPVKTPTVPD
SPGYMGPTRAGSEECVFYTDETASPLAPDLAKASPKRLSLPNTAWGSPSPEAAGYPGAGA
EDEQQQLAANRHSLVEKLGELVAGAHALGEGQFPFPTALSATPTEETPTPPPAATSDPPA
EDMLVAIRRGVRLRRTVTNDRSAPRIL

Sequence length

747

Interactions

View interactions

MTSS2 (MTSS I-BAR domain containing 2)