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

Gene ID: 92154, updated on 27-Nov-2024

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, Nov 2024]
Expression
Broad expression in brain (RPKM 49.9), endometrium (RPKM 14.9) and 19 other tissues See more
Orthologs
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Genomic context

See MTSS2 in Genome Data Viewer
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_000016.10Genomic Context describing neighboring genes Neighboring gene splicing factor 3b subunit 3 Neighboring gene small nucleolar RNA, C/D box 111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70613305-70613810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70613811-70614316 Neighboring gene interleukin 34 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70655383-70655930 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:70655931-70656478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70683694-70684194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70721484-70721990 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70726089-70726916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70726917-70727742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70727743-70728568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70728569-70729394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70729395-70730221 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70731048-70731874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70731875-70732699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70736831-70737596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70737597-70738364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70738365-70739130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70739131-70739896 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70748263-70748982 Neighboring gene VAC14 component of PIKFYVE complex Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70750423-70751140 Neighboring gene Sharpr-MPRA regulatory region 12359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70771856-70772386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70774210-70775017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70779970-70780470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70780471-70780971 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70781216-70781850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:70784627-70785306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70788515-70789155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:70789156-70789796 Neighboring gene VAC14 antisense RNA 1 Neighboring gene tRNA-Gly (anticodon GCC) 3-1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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

  1. NG_051360.1 RefSeqGene

    Range
    4999..29848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_138383.3NP_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:6239
    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

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    70661204..70686053 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    cd07643
    Location:6236
    I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
  2. XM_047434891.1XP_047290847.1  protein MTSS 2 isoform X5

  3. XM_047434892.1XP_047290848.1  protein MTSS 2 isoform X7

  4. XM_047434890.1XP_047290846.1  protein MTSS 2 isoform X3

  5. XM_011523454.4XP_011521756.3  protein MTSS 2 isoform X2

    Conserved Domains (2) summary
    cd07643
    Location:6236
    I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
    pfam05109
    Location:298651
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
  6. XM_017023881.3XP_016879370.2  protein MTSS 2 isoform X8

    Conserved Domains (1) summary
    cd07643
    Location:6239
    I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
  7. XM_017023879.3XP_016879368.2  protein MTSS 2 isoform X4

    Conserved Domains (1) summary
    cd07643
    Location:6239
    I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
  8. XM_017023880.3XP_016879369.2  protein MTSS 2 isoform X6

    Conserved Domains (1) summary
    cd07643
    Location:6239
    I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
  9. XM_011523453.4XP_011521755.3  protein MTSS 2 isoform X1

    Conserved Domains (2) summary
    cd07643
    Location:6239
    I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
    pfam05109
    Location:301654
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
  10. XM_011523450.3XP_011521752.1  protein MTSS 2 isoform X10

    Conserved Domains (2) summary
    cd07643
    Location:48264
    I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
    pfam05109
    Location:326679
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
  11. XM_047434893.1XP_047290849.1  protein MTSS 2 isoform X12

  12. XM_011523458.3XP_011521760.1  protein MTSS 2 isoform X11

    Conserved Domains (1) summary
    cl12013
    Location:891
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  13. XM_017023883.3XP_016879372.2  protein MTSS 2 isoform X14

    Conserved Domains (1) summary
    cd07643
    Location:6239
    I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
  14. XM_017023882.3XP_016879371.2  protein MTSS 2 isoform X13

    Conserved Domains (1) summary
    cd07643
    Location:6239
    I-BAR_IMD_MIM; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Missing In Metastasis
  15. XM_047434894.1XP_047290850.1  protein MTSS 2 isoform X15

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    76472385..76497224 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314364.1XP_054170339.1  protein MTSS 2 isoform X9

  2. XM_054314360.1XP_054170335.1  protein MTSS 2 isoform X5

  3. XM_054314362.1XP_054170337.1  protein MTSS 2 isoform X7

  4. XM_054314358.1XP_054170333.1  protein MTSS 2 isoform X3

  5. XM_054314357.1XP_054170332.1  protein MTSS 2 isoform X2

  6. XM_054314363.1XP_054170338.1  protein MTSS 2 isoform X8

  7. XM_054314359.1XP_054170334.1  protein MTSS 2 isoform X4

  8. XM_054314361.1XP_054170336.1  protein MTSS 2 isoform X6

  9. XM_054314356.1XP_054170331.1  protein MTSS 2 isoform X1

  10. XM_054314365.1XP_054170340.1  protein MTSS 2 isoform X10

  11. XM_054314367.1XP_054170342.1  protein MTSS 2 isoform X12

  12. XM_054314366.1XP_054170341.1  protein MTSS 2 isoform X11

  13. XM_054314369.1XP_054170344.1  protein MTSS 2 isoform X14

  14. XM_054314368.1XP_054170343.1  protein MTSS 2 isoform X13

  15. XM_054314370.1XP_054170345.1  protein MTSS 2 isoform X15