MTSS2 MTSS I-BAR domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTSS2provided by HGNC
Official Full Name: MTSS I-BAR domain containing 2provided by HGNC
Primary source: HGNC:HGNC:25094
See related: Ensembl:ENSG00000132613 MIM:616951; AllianceGenome:HGNC:25094
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ABBA; ABBA1; IDDOF; ABBA-1; MTSS1L
Summary: 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, Dec 2024]
Expression: Broad expression in brain (RPKM 49.9), endometrium (RPKM 14.9) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (70661204..70686053, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (76472385..76497224, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (70695107..70719956, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Title: The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
The ABBA motif in cyclin A is required for its proper degradation in prometaphase through competing with BUBR1 for the same site on CDC20
Title: The ABBA motif binds APC/C activators and is shared by APC/C substrates and regulators.
these data indicates that the interaction between full-length Abba and Rac1 is implicated in membrane deformation and subjected to a growth factor-mediated regulation through the C-terminal sequence.
Title: Abba promotes PDGF-mediated membrane ruffling through activation of the small GTPase Rac1.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual developmental disorder with ocular anomalies and distinctive facial features MedGen: C5774238 OMIM: 620086 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35011 (e-PCR)
- UniSTS:66824

D16S2659 (e-PCR)
- UniSTS:152398

SHGC-61090 (e-PCR)
- UniSTS:75631

D16S3397 (e-PCR)
- UniSTS:54704

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin monomer binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4,5-bisphosphate binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in cell projection assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to platelet-derived growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in lamellipodium organization	IEA Inferred from Electronic Annotation more info
involved_in membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cortical actin cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasmic side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein MTSS 2

Names: MTSS1-like protein; MTSS1L, I-BAR domain containing; actin-bundling with BAIAP2 homology protein 1; metastasis suppressor 1-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_051360.1 RefSeqGene

Range

4999..29848

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_138383.3 → NP_612392.1 protein MTSS 2

See identical proteins and their annotated locations for NP_612392.1

Status: VALIDATED

Source sequence(s)

AB115770, AC020763, BU859607

Consensus CDS

CCDS32476.1

UniProtKB/Swiss-Prot

A6NJI7, Q765P7, Q9BUA8

Related

ENSP00000341171.6, ENST00000338779.11

Conserved Domains (1) summary

cd07643
Location:6 → 239

I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

70661204..70686053 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005256236.6 → XP_005256293.3 protein MTSS 2 isoform X9

Conserved Domains (1) summary

cd07643
Location:6 → 236

I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
XM_047434891.1 → XP_047290847.1 protein MTSS 2 isoform X5
XM_047434892.1 → XP_047290848.1 protein MTSS 2 isoform X7
XM_047434890.1 → XP_047290846.1 protein MTSS 2 isoform X3
XM_011523454.4 → XP_011521756.3 protein MTSS 2 isoform X2

Conserved Domains (2) summary

cd07643
Location:6 → 236

I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis

pfam05109
Location:298 → 651

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
XM_017023881.3 → XP_016879370.2 protein MTSS 2 isoform X8

Conserved Domains (1) summary

cd07643
Location:6 → 239

I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
XM_017023879.3 → XP_016879368.2 protein MTSS 2 isoform X4

Conserved Domains (1) summary

cd07643
Location:6 → 239

I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
XM_017023880.3 → XP_016879369.2 protein MTSS 2 isoform X6

Conserved Domains (1) summary

cd07643
Location:6 → 239

I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
XM_011523453.4 → XP_011521755.3 protein MTSS 2 isoform X1

Conserved Domains (2) summary

cd07643
Location:6 → 239

I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis

pfam05109
Location:301 → 654

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
XM_011523450.3 → XP_011521752.1 protein MTSS 2 isoform X10

Conserved Domains (2) summary

cd07643
Location:48 → 264

I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis

pfam05109
Location:326 → 679

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
XM_047434893.1 → XP_047290849.1 protein MTSS 2 isoform X12
XM_011523458.3 → XP_011521760.1 protein MTSS 2 isoform X11

Conserved Domains (1) summary

cl12013
Location:8 → 91

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_017023883.3 → XP_016879372.2 protein MTSS 2 isoform X14

Conserved Domains (1) summary

cd07643
Location:6 → 239

I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
XM_017023882.3 → XP_016879371.2 protein MTSS 2 isoform X13

Conserved Domains (1) summary

cd07643
Location:6 → 239

I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
XM_047434894.1 → XP_047290850.1 protein MTSS 2 isoform X15