TPM2 tropomyosin 2 [Homo sapiens (human)] - Gene

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; CMYO23; 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: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (35681993..35690056, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (35702645..35710710, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (35681990..35690053, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Title: Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
Title: A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
Mutations Q93H and E97K in TPM2 Disrupt Ca-Dependent Regulation of Actin Filaments.
Title: Mutations Q93H and E97K in TPM2 Disrupt Ca-Dependent Regulation of Actin Filaments.
Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln(147)Pro Tropomyosin.
Title: Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln(147)Pro Tropomyosin.
[Expression of tropomyosin 2 in aortic dissection tissue].
Title: [Expression of tropomyosin 2 in aortic dissection tissue].
TPM2 as a potential predictive biomarker for atherosclerosis.
Title: TPM2 as a potential predictive biomarker for atherosclerosis.
Structural and functional properties of alpha-beta-Tpm heterodimers with myopathic mutations Q147P and K49del in the beta-chain differ significantly from the properties of beta-beta-Tpm homodimers with the same substitutions in both beta-chains. Mutations Q147P and K49del strongly increased the stability of calorimetric domain previously assigned to the N-terminal part of Tpm molecule.
Title: Structural and functional properties of αβ-heterodimers of tropomyosin with myopathic mutations Q147P and K49del in the β-chain.
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
Title: Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
Tropomyosin Tpm 2.1 loss induces glioblastoma spreading in soft brain-like environments. Study demonstrate that Tpm 2.1 depletion by siRNA induces cell spreading and elongation in soft 3D hydrogels, irrespective of matrix composition.
Title: Tropomyosin Tpm 2.1 loss induces glioblastoma spreading in soft brain-like environments.
Hypoxia may regulate cell invasiveness partly by TPM2 down-regulation mediated changes of MMP2 expression, which is also a new pathway by which hypoxia regulates cancer progression. TPM2 is a potential novel tumour suppressor gene in breast cancer.
Title: Hypoxia-Induced TPM2 Methylation is Associated with Chemoresistance and Poor Prognosis in Breast Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (52)

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
Arthrogryposis, distal, type 1A MedGen: C0220662 OMIM: 108120 GeneReviews: Not available	Compare labs
Congenital myopathy 23 MedGen: C1836447 OMIM: 609285 GeneReviews: Not available	Compare labs
Congenital myopathy with fiber type disproportion MedGen: C0546264 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S984E (e-PCR)
- UniSTS:151231

D9S1002E (e-PCR)
- UniSTS:151249

D9S1954 (e-PCR)
- UniSTS:51933

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	IPI Inferred from Physical Interaction 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 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

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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

NG_011620.1 RefSeqGene

Range

5002..13065

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_680

mRNA and Protein(s)

NM_001301226.2 → NP_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:48 → 282

Tropomyosin
NM_001301227.2 → NP_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:48 → 282

Tropomyosin
NM_003289.4 → NP_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:48 → 282

Tropomyosin
NM_213674.1 → NP_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:48 → 282

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

35681993..35690056 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423827.1 → XP_047279783.1 tropomyosin beta chain isoform X2
XM_017015088.3 → XP_016870577.1 tropomyosin beta chain isoform X1

UniProtKB/TrEMBL

B4E3P1

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

35702645..35710710 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.