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

    Gene ID: 23281, updated on 19-May-2018
    Official Symbol
    MTUS2provided by HGNC
    Official Full Name
    microtubule associated scaffold protein 2provided by HGNC
    Primary source
    HGNC:HGNC:20595
    See related
    Ensembl:ENSG00000132938 Vega:OTTHUMG00000016657
    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
    Expression
    Biased expression in heart (RPKM 7.4), ovary (RPKM 1.3) and 4 other tissues See more
    Orthologs
    See MTUS2 in Genome Data Viewer
    Location:
    13q12.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (28820348..29505947)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (29394485..30080084)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 2 Neighboring gene POM121 transmembrane nucleoporin like 13, pseudogene Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 69 Neighboring gene MTUS2 antisense RNA 1 Neighboring gene solute carrier family 7 member 1 Neighboring gene uncharacterized LOC102723345

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI 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.
    NHGRI GWA Catalog
    Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0774

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 
    COLOCALIZES_WITH microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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_001033602.2NP_001028774.2  microtubule-associated tumor suppressor candidate 2 isoform a

      See identical proteins and their annotated locations for NP_001028774.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB018317, AL596092, AL596114, BU788127
      Consensus CDS
      CCDS45022.1
      UniProtKB/Swiss-Prot
      Q5JR59
      UniProtKB/TrEMBL
      J3KQA9
      Conserved Domains (4) summary
      pfam15665
      Location:11271344
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:11331144
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:10571161
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:12241344
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    2. NM_015233.5NP_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, OTTHUMP00000018187, ENST00000380808.6, OTTHUMT00000044335
      Conserved Domains (1) summary
      cl25732
      Location:25298
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      28820348..29505947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535019.3XP_011533321.1  microtubule-associated tumor suppressor candidate 2 isoform X1

      Conserved Domains (4) summary
      pfam15665
      Location:11471364
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:11531164
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:10771181
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:12441364
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    2. XM_011535020.3XP_011533322.1  microtubule-associated tumor suppressor candidate 2 isoform X2

      See identical proteins and their annotated locations for XP_011533322.1

      UniProtKB/TrEMBL
      J3KQA9
      Related
      ENSP00000483729.1, OTTHUMP00000018188, ENST00000612955.4
      Conserved Domains (4) summary
      pfam15665
      Location:11271344
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:11331144
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:10571161
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:12241344
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    3. XM_011535021.3XP_011533323.1  microtubule-associated tumor suppressor candidate 2 isoform X3

      Conserved Domains (4) summary
      pfam15665
      Location:11261343
      FAM184; Family with sequence similarity 184, A and B
      cd16269
      Location:11321143
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:10561160
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:12231343
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    4. XM_017020500.2XP_016875989.1  microtubule-associated tumor suppressor candidate 2 isoform X4

    5. XM_017020501.2XP_016875990.1  microtubule-associated tumor suppressor candidate 2 isoform X5

    6. XM_024449335.1XP_024305103.1  microtubule-associated tumor suppressor candidate 2 isoform X6

      Conserved Domains (2) summary
      cl25732
      Location:272535
      SMC_N; RecF/RecN/SMC N terminal domain
      cl27109
      Location:37182
      Herpes_UL49_2; Herpesvirus UL49 tegument protein
    7. XM_011535022.2XP_011533324.1  microtubule-associated tumor suppressor candidate 2 isoform X6

      See identical proteins and their annotated locations for XP_011533324.1

      Conserved Domains (2) summary
      cl25732
      Location:272535
      SMC_N; RecF/RecN/SMC N terminal domain
      cl27109
      Location:37182
      Herpes_UL49_2; Herpesvirus UL49 tegument protein
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