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TPM4 tropomyosin 4 [ Homo sapiens (human) ]

Gene ID: 7171, updated on 3-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
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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 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)

Genotypes

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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