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TPM2 tropomyosin 2 [ Homo sapiens (human) ]

Gene ID: 7169, updated on 9-Dec-2018

Summary

Official Symbol
TPM2provided by HGNC
Official Full Name
tropomyosin 2provided by HGNC
Primary source
HGNC:HGNC:12011
See related
Ensembl:ENSG00000198467 MIM:190990
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; 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

Genomic context

See TPM2 in Genome Data Viewer
Location:
9p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (35681993..35690056, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35681990..35690583, 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 talin 1 Neighboring gene microRNA 6852 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 FunctionsWhat'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 BioSystems

  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
    Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Cardiac muscle contraction, conserved biosystem (from KEGG)
    Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • 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.
  • Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
    Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...
  • 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....
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
 
muscle filament sliding TAS
Traceable Author Statement
more info
 
regulation of ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
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)

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_001301226.1NP_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, V9HW25
    Related
    ENSP00000367541.1, ENST00000329305.6
    Conserved Domains (1) summary
    pfam00261
    Location:48282
    Tropomyosin; Tropomyosin
  2. NM_001301227.1NP_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, V9HW25
    Related
    ENSP00000495440.1, ENST00000647435.1
    Conserved Domains (1) summary
    pfam00261
    Location:48282
    Tropomyosin; Tropomyosin
  3. NM_003289.3NP_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)
    AA394062, AI660199, AJ572605, X06825
    Consensus CDS
    CCDS6587.1
    UniProtKB/Swiss-Prot
    P07951
    Related
    ENSP00000496494.1, ENST00000645482.1
    Conserved Domains (2) summary
    pfam00261
    Location:48282
    Tropomyosin; Tropomyosin
    pfam16526
    Location:1373
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
  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/Swiss-Prot
    P07951
    UniProtKB/TrEMBL
    V9HW25
    Related
    ENSP00000367542.3, ENST00000378292.8
    Conserved Domains (1) summary
    pfam00261
    Location:48282
    Tropomyosin; Tropomyosin

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.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017015093.2XP_016870582.1  tropomyosin beta chain isoform X4

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

  3. XM_017015091.2XP_016870580.1  tropomyosin beta chain isoform X3

    UniProtKB/Swiss-Prot
    P07951
    Conserved Domains (2) summary
    pfam00261
    Location:48282
    Tropomyosin; Tropomyosin
    pfam16526
    Location:1373
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
  4. XM_017015090.2XP_016870579.1  tropomyosin beta chain isoform X2

    UniProtKB/TrEMBL
    A7XZE4
    Conserved Domains (1) summary
    pfam00261
    Location:48282
    Tropomyosin; Tropomyosin
  5. XM_017015092.2XP_016870581.1  tropomyosin beta chain isoform X4

  6. XM_017015087.2XP_016870576.1  tropomyosin beta chain isoform X1

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.
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