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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 nameGene Name - the full gene name approved by the HGNC.
MTSS I-BAR domain containing 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MTSS2
SynonymsGene synonyms aliases
ABBA, ABBA-1, ABBA1, IDDOF, MTSS1L
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
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 IDsOther 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
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
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074

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