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MTUS2 microtubule associated scaffold protein 2 [ Homo sapiens (human) ]

Gene ID: 23281, updated on 28-Oct-2024

Summary

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Official Symbol
MTUS2provided by HGNC
Official Full Name
microtubule associated scaffold protein 2provided by HGNC
Primary source
HGNC:HGNC:20595
See related
Ensembl:ENSG00000132938 MIM:619358; AllianceGenome:HGNC:20595
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
ICIS; CAZIP; TIP150; KIAA0774
Summary
Enables microtubule binding activity and protein homodimerization activity. Located in centrosome; cytoplasmic microtubule; and intercellular bridge. Part of nucleus. [provided by Alliance of Genome Resources, Oct 2024]
Expression
Biased expression in heart (RPKM 7.4), ovary (RPKM 1.3) and 4 other tissues See more
Orthologs
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Genomic context

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See MTUS2 in Genome Data Viewer
Location:
13q12.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (28819963..29505947)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (28043215..28728869)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (29394100..30080084)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5218 Neighboring gene Sharpr-MPRA regulatory region 8918 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:29327481-29328226 Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 2 Neighboring gene POM121 transmembrane nucleoporin like 13, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:29394350-29394850 Neighboring gene uncharacterized LOC124903144 Neighboring gene Sharpr-MPRA regulatory region 9111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:29785419-29785918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:29797027-29797526 Neighboring gene MTUS2 antisense RNA 2 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 69 Neighboring gene Sharpr-MPRA regulatory region 1517 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:29997136-29997688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30058113-30058632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30058633-30059150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7519 Neighboring gene MTUS2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30098107-30098797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:30141828-30142333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:30154280-30154785 Neighboring gene solute carrier family 7 member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:30163464-30164460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30166621-30167122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30167123-30167622 Neighboring gene Sharpr-MPRA regulatory region 7938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5222 Neighboring gene uncharacterized LOC102723345

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease. Xicota L, et al. Alzheimers Dement, 2024 Apr. PMID 38380866, Free PMC Article
  2. The Microtubule Plus End Tracking Protein TIP150 Interacts with Cortactin to Steer Directional Cell Migration. Adams G Jr, et al. J Biol Chem, 2016 Sep 23. PMID 27451391, Free PMC Article
  3. CAZIP, a novel protein expressed in the developing heart and nervous system. Du Puy L, et al. Dev Dyn, 2009 Nov. PMID 19806667
  4. Aurora A orchestrates entosis by regulating a dynamic MCAK-TIP150 interaction. Xia P, et al. J Mol Cell Biol, 2014 Jun. PMID 24847103, Free PMC Article
  5. Regulation of a dynamic interaction between two microtubule-binding proteins, EB1 and TIP150, by the mitotic p300/CBP-associated factor (PCAF) orchestrates kinetochore microtubule plasticity and chromosome stability during mitosis. Ward T, et al. J Biol Chem, 2013 May 31. PMID 23595990, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.
    Title: Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.
  2. a dynamic TIP150-cortactin interaction orchestrates directional cell migration via coupling dynamic microtubule plus ends to the cortical cytoskeleton.
    Title: The Microtubule Plus End Tracking Protein TIP150 Interacts with Cortactin to Steer Directional Cell Migration.
  3. A dynamic interaction of MCAK-TIP150 orchestrated by Aurora A-mediated phosphorylation governs entosis via regulating microtubule plus-end dynamics and cell rigidity.
    Title: Aurora A orchestrates entosis by regulating a dynamic MCAK-TIP150 interaction.
  4. TIP150-EB1 interaction governs kinetochore microtubule plus-end plasticity and establish that the temporal control of the TIP150-EB1 interaction by PCAF acetylation ensures chromosome stability in mitosis.
    Title: Regulation of a dynamic interaction between two microtubule-binding proteins, EB1 and TIP150, by the mitotic p300/CBP-associated factor (PCAF) orchestrates kinetochore microtubule plasticity and chromosome stability during mitosis.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  6. These results suggest a role for CAZIP in development and function of the heart and nervous system in vertebrates.
    Title: CAZIP, a novel protein expressed in the developing heart and nervous system.
  7. TIP150 facilitates the EB1-dependent loading of MCAK onto MT plus ends and orchestrates the dynamics at the plus end of MTs.
    Title: TIP150 interacts with and targets MCAK at the microtubule plus ends.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.
EBI GWAS Catalog
Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0774

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with cytoplasmic microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intercellular bridge IDA
Inferred from Direct Assay
more info
  
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
microtubule-associated tumor suppressor candidate 2
Names
+TIP of 150 kDa
cardiac zipper protein
microtubule associated tumor suppressor candidate 2
microtubule plus-end tracking protein TIP150
tracking protein of 150 kDa

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.

mRNA and Protein(s)

  1. NM_001033602.4 → NP_001028774.3  microtubule-associated tumor suppressor candidate 2 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AL160255, AL359741, AL596092, AL596114, AL607144
    Consensus CDS
    CCDS45022.2
    UniProtKB/Swiss-Prot
    A7E292, B4DF81, O94872, Q08E97, Q5JQR3, Q5JR59, Q8N5E2
    Related
    ENSP00000483729.2, ENST00000612955.6
    Conserved Domains (3) summary
    PHA03247
    Location:640 → 993
    PHA03247; large tegument protein UL36; Provisional
    COG0419
    Location:1066 → 1329
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam13851
    Location:1000 → 1117
    GAS; Growth-arrest specific micro-tubule binding

  2. NM_001366650.1 → NP_001353579.1  microtubule-associated tumor suppressor candidate 2 isoform c

    Status: VALIDATED

    Source sequence(s)
    AL160255, AL359741, AL596092, AL596114, AL607144
    Conserved Domains (3) summary
    cl25496
    Location:524 → 931
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cl25549
    Location:986 → 1117
    ARGLU; Arginine and glutamate-rich 1
    cl25732
    Location:1065 → 1328
    SMC_N; RecF/RecN/SMC N terminal domain

  3. NM_001366651.1 → NP_001353580.1  microtubule-associated tumor suppressor candidate 2 isoform d

    Status: VALIDATED

    Source sequence(s)
    AL160255, AL359741, AL596092, AL596114, AL607144
    Conserved Domains (2) summary
    cl25732
    Location:1000 → 1263
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26464
    Location:394 → 945
    Atrophin-1; Atrophin-1 family

  4. NM_001384605.1 → NP_001371534.1  microtubule-associated tumor suppressor candidate 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AL160255, AL359741, AL596092, AL596114, AL607144
    Consensus CDS
    CCDS45022.2
    UniProtKB/Swiss-Prot
    A7E292, B4DF81, O94872, Q08E97, Q5JQR3, Q5JR59, Q8N5E2
    Conserved Domains (3) summary
    PHA03247
    Location:640 → 993
    PHA03247; large tegument protein UL36; Provisional
    COG0419
    Location:1066 → 1329
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam13851
    Location:1000 → 1117
    GAS; Growth-arrest specific micro-tubule binding

  5. NM_001384606.1 → NP_001371535.1  microtubule-associated tumor suppressor candidate 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AL160255, AL359741, AL596092, AL596114, AL607144
    Consensus CDS
    CCDS45022.2
    UniProtKB/Swiss-Prot
    A7E292, B4DF81, O94872, Q08E97, Q5JQR3, Q5JR59, Q8N5E2
    Conserved Domains (3) summary
    PHA03247
    Location:640 → 993
    PHA03247; large tegument protein UL36; Provisional
    COG0419
    Location:1066 → 1329
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam13851
    Location:1000 → 1117
    GAS; Growth-arrest specific micro-tubule binding

  6. NM_015233.6 → NP_056048.1  microtubule-associated tumor suppressor candidate 2 isoform b

    See identical proteins and their annotated locations for NP_056048.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a unique start codon, compared to variant 1. The encoded protein (isoform b) is shorter than isoform a.
    Source sequence(s)
    AL596114, BC032481, BC129985, BU788127
    Consensus CDS
    CCDS41874.1
    UniProtKB/Swiss-Prot
    Q5JR59
    Related
    ENSP00000370186.2, ENST00000380808.6
    Conserved Domains (1) summary
    TIGR02168
    Location:25 → 298
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    28819963..29505947
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430227.1 → XP_047286183.1  microtubule-associated tumor suppressor candidate 2 isoform X1

  2. XM_011535019.4 → XP_011533321.1  microtubule-associated tumor suppressor candidate 2 isoform X1

    Conserved Domains (4) summary
    pfam15665
    Location:1147 → 1364
    FAM184; Family with sequence similarity 184, A and B
    cd16269
    Location:1153 → 1164
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:1077 → 1181
    GBP_C; Guanylate-binding protein, C-terminal domain
    cl23720
    Location:1244 → 1364
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

  3. XM_047430228.1 → XP_047286184.1  microtubule-associated tumor suppressor candidate 2 isoform X1

  4. XM_047430229.1 → XP_047286185.1  microtubule-associated tumor suppressor candidate 2 isoform X2

  5. XM_017020500.3 → XP_016875989.1  microtubule-associated tumor suppressor candidate 2 isoform X3

  6. XM_017020501.3 → XP_016875990.1  microtubule-associated tumor suppressor candidate 2 isoform X4

  7. XM_011535022.2 → XP_011533324.1  microtubule-associated tumor suppressor candidate 2 isoform X5

    See identical proteins and their annotated locations for XP_011533324.1

    Conserved Domains (2) summary
    cl25732
    Location:272 → 535
    SMC_N; RecF/RecN/SMC N terminal domain
    cl27109
    Location:37 → 182
    Herpes_UL49_2; Herpesvirus UL49 tegument protein

  8. XM_024449335.2 → XP_024305103.1  microtubule-associated tumor suppressor candidate 2 isoform X5

    Conserved Domains (2) summary
    cl25732
    Location:272 → 535
    SMC_N; RecF/RecN/SMC N terminal domain
    cl27109
    Location:37 → 182
    Herpes_UL49_2; Herpesvirus UL49 tegument protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    28043215..28728869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374344.1 → XP_054230319.1  microtubule-associated tumor suppressor candidate 2 isoform X1

  2. XM_054374343.1 → XP_054230318.1  microtubule-associated tumor suppressor candidate 2 isoform X1

  3. XM_054374345.1 → XP_054230320.1  microtubule-associated tumor suppressor candidate 2 isoform X1

  4. XM_054374346.1 → XP_054230321.1  microtubule-associated tumor suppressor candidate 2 isoform X2

  5. XM_054374347.1 → XP_054230322.1  microtubule-associated tumor suppressor candidate 2 isoform X3

  6. XM_054374348.1 → XP_054230323.1  microtubule-associated tumor suppressor candidate 2 isoform X4

  7. XM_054374350.1 → XP_054230325.1  microtubule-associated tumor suppressor candidate 2 isoform X5

  8. XM_054374349.1 → XP_054230324.1  microtubule-associated tumor suppressor candidate 2 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5JR59.3 GenPept UniProtKB/Swiss-Prot:Q5JR59

Gene LinkOut

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