MTSS2 (MTSS I-BAR domain containing 2)

Gene

• Entrez ID: 92154
• Gene name: MTSS I-BAR domain containing 2
• Gene symbol: MTSS2
• Synonyms (NCBI Gene): ABBA, ABBA-1, ABBA1, IDDOF, MTSS1L
• Chromosome: 16
• Chromosome location: 16q22.1

SNPs

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

Gene ontology (GO)

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

Other IDs

• MIM: 616951
• HGNC: 25094
• e!Ensembl: 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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Global developmental delay	Likely pathogenic	rs531163149	RCV000162183
Hypotonia	Likely pathogenic	rs531163149	RCV000162183
Intellectual developmental disorder with ocular anomalies and distinctive facial features	Likely pathogenic; Pathogenic	rs753688777	RCV002293251
Intellectual disability	Likely pathogenic	rs531163149	RCV000162183
Iron deposition in globus pallidus	Likely pathogenic	rs531163149	RCV000162183
Microcephaly	Likely pathogenic	rs531163149	RCV000162183
MTSS2-related neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs753688777	RCV001255620
Syndromic intellectual disability	Likely pathogenic; Pathogenic	rs753688777	RCV003447582

Associations from Text Mining
Disease Name	Relationship Type	References
Neoplasm Metastasis	Associate	38279296