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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Global developmental delay	Likely pathogenic	rs531163149	RCV000162183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia	Likely pathogenic	rs531163149	RCV000162183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder with ocular anomalies and distinctive facial features	Likely pathogenic; Pathogenic	rs753688777	RCV002293251	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs531163149	RCV000162183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iron deposition in globus pallidus	Likely pathogenic	rs531163149	RCV000162183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic	rs531163149	RCV000162183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MTSS2-related neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs753688777	RCV001255620	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic intellectual disability	Likely pathogenic; Pathogenic	rs753688777	RCV003447582	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glomerulonephritis	Glomerulonephritis	BEFREE	28213474		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27221859		★☆☆☆☆ Found in Text Mining only