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    TPM2 tropomyosin 2 [ Homo sapiens (human) ]

    Gene ID: 7169, updated on 5-May-2024

    Summary

    Official Symbol
    TPM2provided by HGNC
    Official Full Name
    tropomyosin 2provided by HGNC
    Primary source
    HGNC:HGNC:12011
    See related
    Ensembl:ENSG00000198467 MIM:190990; AllianceGenome:HGNC:12011
    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
    DA1; DA2B; NEM4; TMSB; AMCD1; DA2B4; CMYP23; HEL-S-273
    Summary
    This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
    Expression
    Broad expression in prostate (RPKM 355.8), endometrium (RPKM 279.3) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TPM2 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35681993..35690056, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35702645..35710710, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35681990..35690053, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 22, pseudogene Neighboring gene carbonic anhydrase 9 Neighboring gene skeletal muscle cis-regulatory module in TPM2 intron Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19873 Neighboring gene talin 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:35710778-35711977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35714704-35715608 Neighboring gene microRNA 6852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35726478-35727190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35727191-35727904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28336 Neighboring gene microRNA 6853 Neighboring gene cAMP responsive element binding protein 3

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Exposure of human skin fibroblasts to HIV-1 protease induces the degradation of the vimentin filament network and the disappearance of the tropomyosin isoforms microfilament network PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of ATP-dependent activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of muscle thin filament tropomyosin TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    tropomyosin beta chain
    Names
    epididymis secretory protein Li 273
    nemaline myopathy type 4
    tropomyosin 2 (beta)

    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_011620.1 RefSeqGene

      Range
      5002..13065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_680

    mRNA and Protein(s)

    1. NM_001301226.2NP_001288155.1  tropomyosin beta chain isoform Tpm2.3

      See identical proteins and their annotated locations for NP_001288155.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm2.3, also known as variant 4) differs in the 3' UTR and coding sequence compared to variant Tpm2.2. The resulting isoform (Tpm2.3, also known as isoform 4) has a distinct C-terminus compared to isoform Tpm2.2st.
      Source sequence(s)
      BE294047, FJ224304
      Consensus CDS
      CCDS78394.1
      UniProtKB/TrEMBL
      Q5TCU3
      Related
      ENSP00000367541.1, ENST00000329305.6
      Conserved Domains (1) summary
      pfam00261
      Location:48282
      Tropomyosin
    2. NM_001301227.2NP_001288156.1  tropomyosin beta chain isoform Tpm2.4

      See identical proteins and their annotated locations for NP_001288156.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm2.4, also known as variant 5) has an alternate in-frame exon in place of an internal exon compared to variant Tpm2.2. The resulting isoform (Tpm2.4, also known as isoform 5) has a different internal segment but has the same protein size as compared to isoform Tpm2.2st.
      Source sequence(s)
      EU106177, F24979, FJ224304
      Consensus CDS
      CCDS87651.1
      UniProtKB/TrEMBL
      A7XZE4
      Related
      ENSP00000495440.1, ENST00000647435.1
      Conserved Domains (1) summary
      pfam00261
      Location:48282
      Tropomyosin
    3. NM_003289.4NP_003280.2  tropomyosin beta chain isoform Tpm2.2st

      See identical proteins and their annotated locations for NP_003280.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm2.2, also known as variant 1) represents the longer transcript and encodes isoform Tpm2.2st (also known as isoform 1).
      Source sequence(s)
      AI660199, AJ572605, X06825
      Consensus CDS
      CCDS6587.1
      UniProtKB/Swiss-Prot
      A6NM85, P06468, P07951, Q13894, Q53FM4, Q5TCU4, Q5TCU7, Q9UH67
      Related
      ENSP00000496494.2, ENST00000645482.3
      Conserved Domains (1) summary
      pfam00261
      Location:48282
      Tropomyosin
    4. NM_213674.1NP_998839.1  tropomyosin beta chain isoform Tpm2.1sm/cy

      See identical proteins and their annotated locations for NP_998839.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm2.1, also known as variant 2) has an alternate internal exon and an alternate 3' exon, as compared to variant Tpm2.2. The resulting isoform (Tpm2.1sm/cy, also known as isoform 2) has a different internal segment and a different C-terminus, but has the same protein size, as compared to isoform Tpm2.2st.
      Source sequence(s)
      AA394062, AI360640, AI660199, AK130045, M12125, M75165
      Consensus CDS
      CCDS6586.1
      UniProtKB/TrEMBL
      V9HW25
      Related
      ENSP00000367542.3, ENST00000378292.9
      Conserved Domains (1) summary
      pfam00261
      Location:48282
      Tropomyosin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      35681993..35690056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423827.1XP_047279783.1  tropomyosin beta chain isoform X2

    2. XM_017015088.3XP_016870577.1  tropomyosin beta chain isoform X1

      UniProtKB/TrEMBL
      B4E3P1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35702645..35710710 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363711.1XP_054219686.1  tropomyosin beta chain isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001145822.1: Suppressed sequence

      Description
      NM_001145822.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which aligns to the genome with non-consensus splice sites.