MTSS2
Protein MTSS 2
Also known as: ABBA, ABBA-1, LOC92154, MTSS1L, MTSS2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q765P7
- Gene
- MTSS2
- Ensembl
- ENSG00000132613
- Chromosome
- 16
- Canonical length
- 747 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Focal adhesion sites
OverviewNCBI Gene
Enables GTPase activator activity and small GTPase binding activity. Involved in activation of GTPase activity and cellular response to platelet-derived growth factor stimulus. Located in ruffle membrane. Implicated in intellectual developmental disorder with ocular anomalies and distinctive facial features. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
747 residues, UniProt reviewed canonical sequence.
>Q765P7|MTSS2
1 METAEKECGA LGGLFQAIVN DMKSSYPIWE DFNSKATKLH SQLRTTVLAA VAFLDAFQKV
61 ADMATNTRGA TRDIGSALTR MCMRHRSIET KLRQFTNALL ESLINPLQER IEDWKKAANQ
121 LDKDHAKEYK RARHEIKKKS SDTLKLQKKA RKELLGKGDL QPQLDSALQD VNDMYLLLEE
181 TEKQAVRRAL IEERGRFCTF ITFLQPVVNG ELTMLGEITH LQGIIDDLVV LTAEPHKLPP
241 ASEQVIKDLK GSDYSWSYQT PPSSPSSSSS RKSSMCSAPS SSSSAKGGGA PWPGGAQTYS
301 PSSTCRYRSL AQPATTTARL SSVSSHDSGF VSQDATYSKP PSPMPSDITS QKSSSSASSE
361 ASETCQSVSE CSSPTSDWSK VGSHEQPSGA TLQRRKDRVE LLRDTEPGPA SGGTLGPSGE
421 EAPRPRMSPA TIAAKHGEEV SPAASDLAMV LTRGLSLEHQ KSSRDSLQYS SGYSTQTTTP
481 SCSEDTIPSQ GSDYDCYSVN GDADSEGPPE FDKSSTIPRN SNIAQNYRRL IQTKRPASTA
541 GLPTAGLPTA TGLPSGAPPG VATIRRTPST KPTVRRALSS AGPIPIRPPI VPVKTPTVPD
601 SPGYMGPTRA GSEECVFYTD ETASPLAPDL AKASPKRLSL PNTAWGSPSP EAAGYPGAGA
661 EDEQQQLAAN RHSLVEKLGE LVAGAHALGE GQFPFPTALS ATPTEETPTP PPAATSDPPA
721 EDMLVAIRRG VRLRRTVTND RSAPRILLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MTSS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.58
- Highest tissue expression
- 289 nTPM
Expression across tissuesHPA
Tissue
- amygdala: 289 nTPM
- spinal cord: 268 nTPM
- midbrain: 258 nTPM
- hippocampal formation: 255 nTPM
- cerebral cortex: 254 nTPM
- basal ganglia: 228 nTPM
Single-cell type
- bergmann glia: 469 nCPM
- oligodendrocyte progenitor cells: 291 nCPM
- astrocytes: 276 nCPM
- extravillous trophoblasts: 146 nCPM
- ependymal cells: 140 nCPM
- retinal pigment epithelial cells: 94 nCPM
Immune cell
- MAIT T-cell: 0.5 nTPM
- plasmacytoid DC: 0.5 nTPM
- naive CD8 T-cell: 0.1 nTPM
- total PBMC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
Brain region
- medulla oblongata: 787 nTPM
- hypothalamus: 698 nTPM
- thalamus: 681 nTPM
- midbrain: 666 nTPM
- amygdala: 626 nTPM
- basal ganglia: 623 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MTSS2.
Disease | AllUniProt
Conditions MTSS2 is implicated in, by any mechanism.
- Intellectual developmental disorder with ocular anomalies and distinctive facial features (IDDOF) MIM:620086
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 248 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Iron deposition in globus pallidus
- Microcephaly
- Intellectual disability
- Hypotonia
- Global developmental delay
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.31
- gnomAD pLI
- 0.98
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- activation of GTPase activity
- cell projection assembly
- cellular response to platelet-derived growth factor stimulus
- lamellipodium organization
- membrane organization
- plasma membrane organization
Molecular functions
- actin binding
- actin monomer binding
- GTPase activator activity
- phosphatidylinositol-4,5-bisphosphate binding
- phospholipid binding
- small GTPase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MTSS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MTSS2 as an antibody target. Whether an autoantibody or antibody against MTSS2 could matter depends on whether native MTSS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MTSS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MTSS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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