MTSS2 (MTSS I-BAR domain containing 2)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
92154
Gene name Gene Name - the full gene name approved by the HGNC.
MTSS I-BAR domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MTSS2
Synonyms (NCBI Gene) Gene synonyms aliases
ABBA, ABBA-1, ABBA1, IDDOF, MTSS1L
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDDOF
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
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) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0003785 Function Actin monomer binding IEA
GO:0005096 Function GTPase activator activity IDA 20875796
GO:0005515 Function Protein binding IPI 32296183
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IEA
GO:0007009 Process Plasma membrane organization IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616951 25094 ENSG00000132613
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Show/Hide Text Mining Associations (1)
Associations from Text Mining
Disease Name Relationship Type References
Neoplasm Metastasis Associate 38279296