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    TMOD2 tropomodulin 2 [ Homo sapiens (human) ]

    Gene ID: 29767, updated on 17-Jun-2019

    Summary

    Official Symbol
    TMOD2provided by HGNC
    Official Full Name
    tropomodulin 2provided by HGNC
    Primary source
    HGNC:HGNC:11872
    See related
    Ensembl:ENSG00000128872 MIM:602928
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NTMOD; N-TMOD
    Summary
    This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]
    Expression
    Biased expression in brain (RPKM 47.3), appendix (RPKM 3.6) and 7 other tissues See more
    Orthologs

    Genomic context

    See TMOD2 in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (51751561..51816363)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (52043758..52108560)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene secretogranin III Neighboring gene LysM domain containing 2 Neighboring gene tropomodulin 3 Neighboring gene UTP6, small subunit (SSU) processome component, homolog (yeast) pseudogene Neighboring gene RNA, U6 small nuclear 90, pseudogene

    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

    Pathways from BioSystems

    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
      Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC39481

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    tropomyosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    myofibril assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron-neuron synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    pointed-end actin filament capping IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    myofibril IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    striated muscle thin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    tropomodulin-2
    Names
    neuronal tropomodulin
    tropomodulin 2 (neuronal)

    NCBI Reference Sequences (RefSeq)

    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_001142885.2NP_001136357.1  tropomodulin-2 isoform b

      See identical proteins and their annotated locations for NP_001136357.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region compared to variant 1. The encoded protein (isoform b) is shorter compared to isoform a.
      Source sequence(s)
      AC026770, AC090971, AK293823, DA808222
      Consensus CDS
      CCDS45260.1
      UniProtKB/Swiss-Prot
      Q9NZR1
      Related
      ENSP00000404590.2, ENST00000435126.6
      Conserved Domains (2) summary
      cd00116
      Location:197287
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      pfam03250
      Location:5146
      Tropomodulin; Tropomodulin
    2. NM_014548.4NP_055363.1  tropomodulin-2 isoform a

      See identical proteins and their annotated locations for NP_055363.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC090971, BC064961, DA808222
      Consensus CDS
      CCDS10144.1
      UniProtKB/Swiss-Prot
      Q9NZR1
      Related
      ENSP00000249700.4, ENST00000249700.9
      Conserved Domains (2) summary
      pfam03250
      Location:5146
      Tropomodulin; Tropomodulin
      cl26161
      Location:215323
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      51751561..51816363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022089.2XP_016877578.1  tropomodulin-2 isoform X1

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