MTSS2 (MTSS I-BAR domain containing 2)

2008-12-01  

Identity

HGNC
MTSS2
LOCATION
16q22.1
LOCUSID
92154
ALIAS
ABBA,ABBA-1,ABBA1,MTSS1L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 92154
MIM: 616951
HGNC: 25094
Ensembl: ENSG00000132613

Variants:

dbSNP: 92154
ClinVar: 92154
TCGA: ENSG00000132613
COSMIC: MTSS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132613ENST00000338779Q765P7
ENSG00000132613ENST00000562883H3BPV0
ENSG00000132613ENST00000576338I3L2G4
ENSG00000132613ENST00000616026A0A087WXN9

References

Pubmed IDYearTitleCitations
360677662022The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.5
360677662022The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.5
256698852015The ABBA motif binds APC/C activators and is shared by APC/C substrates and regulators.98
256698852015The ABBA motif binds APC/C activators and is shared by APC/C substrates and regulators.98
208757962010Abba promotes PDGF-mediated membrane ruffling through activation of the small GTPase Rac1.7
208757962010Abba promotes PDGF-mediated membrane ruffling through activation of the small GTPase Rac1.7

Citation

Dessen P

MTSS2 (MTSS I-BAR domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50535