Aliases for MTSS2 Gene

Aliases for MTSS2 Gene

  • MTSS I-BAR Domain Containing 2 2 3 5
  • Actin-Bundling With BAIAP2 Homology Protein 1 3 4
  • MTSS1L, I-BAR Domain Containing 2 3
  • MTSS1-Like Protein 3 4
  • Protein MTSS 2 3 4
  • MTSS1L 3 4
  • ABBA-1 3 4
  • Actin-Bundling Protein With BAIAP2 Homology 2
  • Metastasis Suppressor 1-Like 3
  • Metastasis Suppressor 1 Like 2
  • ABBA1 3
  • ABBA 3

External Ids for MTSS2 Gene

Previous HGNC Symbols for MTSS2 Gene

  • MTSS1L

Summaries for MTSS2 Gene

GeneCards Summary for MTSS2 Gene

MTSS2 (MTSS I-BAR Domain Containing 2) is a Protein Coding gene. Diseases associated with MTSS2 include Integrative Agnosia and Simultanagnosia. An important paralog of this gene is MTSS1.

UniProtKB/Swiss-Prot Summary for MTSS2 Gene

  • 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).

Additional gene information for MTSS2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTSS2 Gene

Genomics for MTSS2 Gene

GeneHancer (GH) Regulatory Elements for MTSS2 Gene

Promoters and enhancers for MTSS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTSS2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTSS2

Genomic Locations for MTSS2 Gene

Genomic Locations for MTSS2 Gene
chr16:70,661,204-70,686,053
(GRCh38/hg38)
Size:
24,850 bases
Orientation:
Minus strand
chr16:70,695,107-70,719,969
(GRCh37/hg19)
Size:
24,863 bases
Orientation:
Minus strand

Genomic View for MTSS2 Gene

Genes around MTSS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTSS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTSS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTSS2 Gene

Proteins for MTSS2 Gene

  • Protein details for MTSS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q765P7-MTSS2_HUMAN
    Recommended name:
    Protein MTSS 2
    Protein Accession:
    Q765P7
    Secondary Accessions:
    • A6NJI7
    • Q9BUA8

    Protein attributes for MTSS2 Gene

    Size:
    747 amino acids
    Molecular mass:
    79929 Da
    Quaternary structure:
    • Interacts (via IMD domain) with RAC1; this interaction may be important to potentiate PDGF-induced RAC1 activation.

    Alternative splice isoforms for MTSS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTSS2 Gene

Post-translational modifications for MTSS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTSS2 Gene

Domains & Families for MTSS2 Gene

Gene Families for MTSS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MTSS2 Gene

Suggested Antigen Peptide Sequences for MTSS2 Gene

GenScript: Design optimal peptide antigens:
  • Actin-bundling with BAIAP2 homology protein 1 (MTSSL_HUMAN)
  • MTSS1L protein (Q8TB44_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q765P7

UniProtKB/Swiss-Prot:

MTSS2_HUMAN :
  • Belongs to the MTSS family.
Family:
  • Belongs to the MTSS family.
genes like me logo Genes that share domains with MTSS2: view

Function for MTSS2 Gene

Molecular function for MTSS2 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for MTSS2 Gene

Gene Ontology (GO) - Molecular Function for MTSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0003785 actin monomer binding IEA --
GO:0005096 GTPase activator activity IDA 20875796
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IEA --
GO:0048365 Rac GTPase binding IEA,IPI 20875796
genes like me logo Genes that share ontologies with MTSS2: view
genes like me logo Genes that share phenotypes with MTSS2: view

Animal Models for MTSS2 Gene

MGI Knock Outs for MTSS2:
  • Mtss2 Mtss2<tm1a(KOMP)Wtsi>

miRNA for MTSS2 Gene

miRTarBase miRNAs that target MTSS2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTSS2 Gene

Localization for MTSS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTSS2 Gene

Cytoplasm. Cell projection, ruffle. Note=Colocalizes with RAC1 within membrane ruffles. {ECO:0000269 PubMed:20875796}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTSS2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
nucleus 3
cytosol 3
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0030027 lamellipodium IEA --
GO:0030864 cortical actin cytoskeleton IEA --
GO:0032587 ruffle membrane IDA 20875796
genes like me logo Genes that share ontologies with MTSS2: view

Pathways & Interactions for MTSS2 Gene

PathCards logo

SuperPathways for MTSS2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007009 plasma membrane organization IEA --
GO:0036120 cellular response to platelet-derived growth factor stimulus IDA 20875796
GO:0061024 membrane organization IEA --
GO:0090630 activation of GTPase activity IDA 20875796
GO:0097178 ruffle assembly IEA --
genes like me logo Genes that share ontologies with MTSS2: view

No data available for Pathways by source and SIGNOR curated interactions for MTSS2 Gene

Drugs & Compounds for MTSS2 Gene

No Compound Related Data Available

Transcripts for MTSS2 Gene

mRNA/cDNA for MTSS2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTSS2 Gene

No ASD Table

Relevant External Links for MTSS2 Gene

GeneLoc Exon Structure for
MTSS2

Expression for MTSS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTSS2

SOURCE GeneReport for Unigene cluster for MTSS2 Gene:

Hs.432387

Evidence on tissue expression from TISSUES for MTSS2 Gene

  • Liver(4.4)
  • Skin(4.2)
  • Nervous system(3.5)
  • Eye(2.8)
  • Muscle(2.5)
  • Heart(2)
genes like me logo Genes that share expression patterns with MTSS2: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTSS2 Gene

Orthologs for MTSS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTSS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTSS1L 31 30
  • 99.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTSS1L 31 30
  • 91.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTSS1L 31 30
  • 91.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtss1l 30
  • 89.53 (n)
mouse
(Mus musculus)
Mammalia Mtss1l 31 30
  • 89.25 (n)
OneToOne
Mtss2 17
platypus
(Ornithorhynchus anatinus)
Mammalia MTSS1L 31
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTSS1L 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTSS1L 31 30
  • 81.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTSS1L 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtss1l 30
  • 70.83 (n)
Str.17843 30
zebrafish
(Danio rerio)
Actinopterygii MTSS1L (2 of 2) 31
  • 74 (a)
OneToMany
mtss1l 31 30
  • 68.55 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mim 31
  • 5 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M04F3.5 31
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
ManyToMany
-- 31
  • 21 (a)
ManyToMany
Species where no ortholog for MTSS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTSS2 Gene

ENSEMBL:
Gene Tree for MTSS2 (if available)
TreeFam:
Gene Tree for MTSS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTSS2: view image

Paralogs for MTSS2 Gene

Paralogs for MTSS2 Gene

genes like me logo Genes that share paralogs with MTSS2: view

Variants for MTSS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTSS2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
727688 Likely Benign: not provided 70,663,785(-) T/G SYNONYMOUS_VARIANT
rs531163149 Likely Pathogenic: Microcephaly; Intellectual disability; Muscular hypotonia; Global developmental delay; Iron deposition in globus pallidus 70,664,131(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MTSS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MTSS2 Gene

Variant ID Type Subtype PubMed ID
dgv1366n106 CNV deletion 24896259
esv2666396 CNV deletion 23128226
esv3892881 CNV gain 25118596
nsv1059226 CNV gain 25217958
nsv1143827 CNV deletion 24896259
nsv1856 CNV insertion 18451855
nsv471094 CNV loss 18288195
nsv517391 CNV loss 19592680
nsv572945 CNV gain 21841781
nsv572946 CNV loss 21841781
nsv572947 CNV loss 21841781
nsv7285 OTHER inversion 18451855
nsv952049 CNV deletion 24416366

Variation tolerance for MTSS2 Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTSS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTSS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTSS2 Gene

Disorders for MTSS2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MTSS2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
integrative agnosia
simultanagnosia
finger agnosia
autotopagnosia
  • body-image agnosia
alexia
  • acquired dyslexia
- elite association - COSMIC cancer census association via MalaCards
Search MTSS2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with MTSS2: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for MTSS2 Gene

Publications for MTSS2 Gene

  1. Abba promotes PDGF-mediated membrane ruffling through activation of the small GTPase Rac1. (PMID: 20875796) Zheng D … Zhan X (Biochemical and biophysical research communications 2010) 2 3 4 54
  2. A novel actin bundling/filopodium-forming domain conserved in insulin receptor tyrosine kinase substrate p53 and missing in metastasis protein. (PMID: 14752106) Yamagishi A … Mochizuki N (The Journal of biological chemistry 2004) 3 4 54
  3. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54
  4. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T … Xu J (Neurobiology of aging 2015) 3 54
  5. Substrate trapping proteomics reveals targets of the βTrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim TY … Major MB (Molecular and cellular biology 2015) 3 54

Products for MTSS2 Gene

Sources for MTSS2 Gene