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    TPM4 tropomyosin 4 [ Homo sapiens (human) ]

    Gene ID: 7171, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TPM4provided by HGNC
    Official Full Name
    tropomyosin 4provided by HGNC
    Primary source
    HGNC:HGNC:12013
    See related
    Ensembl:ENSG00000167460 MIM:600317; AllianceGenome:HGNC:12013
    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
    BDPLT25; HEL-S-108
    Summary
    This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
    Expression
    Ubiquitous expression in gall bladder (RPKM 102.4), urinary bladder (RPKM 100.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TPM4 in Genome Data Viewer
    Location:
    19p13.12-p13.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16067538..16103002)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (16201542..16237074)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16178348..16213812)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 1 subfamily AB member 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 14445 Neighboring gene Sharpr-MPRA regulatory region 6392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14197 Neighboring gene long intergenic non-protein coding RNA 1855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16182106-16182670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16186189-16186918 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:16186919-16187646 and GRCh37_chr19:16187647-16188376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14201 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16191291-16192018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14202 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16204789-16205662 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:16207997-16208194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14207 Neighboring gene RAB8A, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16253936-16254630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14213 Neighboring gene hematopoietic SH2 domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14215 Neighboring gene Sharpr-MPRA regulatory region 5225 Neighboring gene calcium and integrin binding family member 3

    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
    • 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. Upregulation of tropomyosin alpha-4 chain in patients' saliva with oral squamous cell carcinoma as demonstrated by Phage display. Faria PCB, et al. Sci Rep, 2019 Dec 5. PMID 31804537, Free PMC Article
    2. A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling. Marín-Quílez A, et al. J Thromb Haemost, 2022 May. PMID 35170221, Free PMC Article
    3. Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding. Stapley RJ, et al. J Thromb Haemost, 2022 Feb. PMID 34758189
    4. Tropomyosin-4 correlates with higher SBR grades and tubular differentiation in infiltrating ductal breast carcinomas: an immunohistochemical and proteomics-based study. Kabbage M, et al. Tumour Biol, 2013 Dec. PMID 23812729
    5. Load-dependent modulation of non-muscle myosin-2A function by tropomyosin 4.2. Hundt N, et al. Sci Rep, 2016 Feb 5. PMID 26847712, Free PMC Article

    See all (161) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MicroRNA-5195-3p mediated malignant biological behaviour of insulin-resistant liver cancer cells via SOX9 and TPM4.
      Title: MicroRNA-5195-3p mediated malignant biological behaviour of insulin-resistant liver cancer cells via SOX9 and TPM4.
    2. Integrated pan-cancer analysis and experimental verification of the roles of tropomyosin 4 in gastric cancer.
      Title: Integrated pan-cancer analysis and experimental verification of the roles of tropomyosin 4 in gastric cancer.
    3. LncRNA SFTA1P promotes cervical cancer progression by interaction with PTBP1 to facilitate TPM4 mRNA degradation.
      Title: LncRNA SFTA1P promotes cervical cancer progression by interaction with PTBP1 to facilitate TPM4 mRNA degradation.
    4. Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding.
      Title: Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding.
    5. The miR-133a, TPM4 and TAp63gamma Role in Myocyte Differentiation Microfilament Remodelling and Colon Cancer Progression.
      Title: The miR-133a, TPM4 and TAp63γ Role in Myocyte Differentiation Microfilament Remodelling and Colon Cancer Progression.
    6. The expression and clinical significance of TPM4 in hepatocellular carcinoma.
      Title: The expression and clinical significance of TPM4 in hepatocellular carcinoma.
    7. Differential expression and diagnostic significance of P53, MutS homologs 2, tropomyosin-4 in alpha-fetoprotein-negative hepatocellular carcinoma.
      Title: Differential expression and diagnostic significance of P53, MutS homologs 2, tropomyosin-4 in alpha-fetoprotein-negative hepatocellular carcinoma.
    8. TPM4 aggravates the malignant progression of hepatocellular carcinoma through negatively regulating SUSD2.
      Title: TPM4 aggravates the malignant progression of hepatocellular carcinoma through negatively regulating SUSD2.
    9. Upregulation of tropomyosin alpha-4 chain in patients' saliva with oral squamous cell carcinoma as demonstrated by Phage display.
      Title: Upregulation of tropomyosin alpha-4 chain in patients' saliva with oral squamous cell carcinoma as demonstrated by Phage display.
    10. TPM4 is associated with clinical progression in colon cancer patients and acts as a tumor suppressor in colon cancer cells.
      Title: The clinical significance and biological function of tropomyosin 4 in colon cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    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

    Associated conditions

    Description Tests
    Bleeding disorder, platelet-type, 25
    MedGen: C5882683 OMIM: 620486 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 calcium ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 osteoblast differentiation HDA PubMed 
    involved_in platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cortical cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in membrane HDA PubMed 
    part_of muscle thin filament tropomyosin TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in podosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tropomyosin alpha-4 chain
    Names
    TM30p1
    epididymis secretory protein Li 108

    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_015841.1 RefSeqGene

      Range
      5032..40496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1339

    mRNA and Protein(s)

    1. NM_001145160.2 → NP_001138632.1  tropomyosin alpha-4 chain isoform Tpm4.1cy

      See identical proteins and their annotated locations for NP_001138632.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm4.1, also known as variant 1) encodes the longest isoform (Tpm4.1cy, also known as isoform 1).
      Source sequence(s)
      AC008894, AK023385
      Consensus CDS
      CCDS46007.1
      UniProtKB/Swiss-Prot
      P67936
      Related
      ENSP00000494125.1, ENST00000646974.2
      Conserved Domains (1) summary
      pfam00261
      Location:48 → 282
      Tropomyosin

    2. NM_001367836.1 → NP_001354765.1  tropomyosin alpha-4 chain isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC008894

    3. NM_001367837.2 → NP_001354766.1  tropomyosin alpha-4 chain isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC008894
      Consensus CDS
      CCDS92548.1
      UniProtKB/TrEMBL
      A0A2R8Y5V9, A0A2R8YH90
      Related
      ENSP00000494867.1, ENST00000645471.1
      Conserved Domains (1) summary
      pfam00261
      Location:12 → 246
      Tropomyosin

    4. NM_001367838.1 → NP_001354767.1  tropomyosin alpha-4 chain isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC008894
      Consensus CDS
      CCDS92549.1
      UniProtKB/TrEMBL
      A0A2R8YE05, K7ENT6
      Related
      ENSP00000467087.3, ENST00000586833.7
      Conserved Domains (1) summary
      pfam00261
      Location:42 → 243
      Tropomyosin

    5. NM_003290.3 → NP_003281.1  tropomyosin alpha-4 chain isoform Tpm4.2cy

      See identical proteins and their annotated locations for NP_003281.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Tpm4.2, also known as variant 2) differs in the 5' UTR and coding sequence compared to variant Tpm4.1. The resulting isoform (Tpm4.2cy, also known as isoform 2) has a shorter and distinct N-terminus compared to isoform Tpm4.1cy.
      Source sequence(s)
      AC008894, BC037576
      Consensus CDS
      CCDS12338.1
      UniProtKB/Swiss-Prot
      P07226, P67936, Q15659, Q5U0D9, Q9BU85, Q9H8Q3, Q9UCS1, Q9UCS2, Q9UCS3, Q9UCS4
      UniProtKB/TrEMBL
      V9HW56
      Related
      ENSP00000495347.1, ENST00000643579.2
      Conserved Domains (1) summary
      pfam00261
      Location:12 → 246
      Tropomyosin

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      16067538..16103002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      16201542..16237074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P67936.3 GenPept UniProtKB/Swiss-Prot:P67936

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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