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P07951

- TPM2_HUMAN

UniProt

P07951 - TPM2_HUMAN

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Protein

Tropomyosin beta chain

Gene

TPM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization (By similarity).By similarity

GO - Molecular functioni

  1. actin binding Source: UniProtKB
  2. structural constituent of muscle Source: ProtInc

GO - Biological processi

  1. muscle contraction Source: Reactome
  2. muscle filament sliding Source: Reactome
  3. regulation of ATPase activity Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.
REACT_20558. Smooth Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Tropomyosin beta chain
Alternative name(s):
Beta-tropomyosin
Tropomyosin-2
Gene namesi
Name:TPM2
Synonyms:TMSB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:12011. TPM2.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. muscle thin filament tropomyosin Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Nemaline myopathy 4 (NEM4) [MIM:609285]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 4 presents from infancy to childhood with hypotonia and moderate-to-severe proximal weakness with minimal or no progression. Major motor milestones are delayed but independent ambulation is usually achieved, although a wheelchair may be needed in later life.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31A → G in NEM4. 1 Publication
VAR_071486
Natural varianti7 – 71Missing in NEM4. 1 Publication
VAR_071487
Natural varianti14 – 141D → V in NEM4. 1 Publication
VAR_071488
Natural varianti41 – 411E → K in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion and patients with undefined congenital myopathy. 2 Publications
VAR_070978
Natural varianti117 – 1171E → A in NEM4. 1 Publication
VAR_013468
Natural varianti133 – 1331R → W in DA2B, NEM4 and DA1A; also found in a patient with congenital myopathy with fiber-type disproportion. 2 Publications
VAR_070981
Natural varianti143 – 1431L → P in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication
VAR_071494
Natural varianti147 – 1471Q → P in NEM4. 1 Publication
VAR_013469
Natural varianti148 – 1481L → P in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication
VAR_071495
Arthrogryposis, distal, 1A (DA1A) [MIM:108120]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti91 – 911R → G in DA1A. 1 Publication
VAR_016086
Natural varianti93 – 931Q → R in DA1A. 1 Publication
VAR_071490
Natural varianti117 – 1171E → K in DA1A; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication
VAR_071491
Natural varianti133 – 1331R → W in DA2B, NEM4 and DA1A; also found in a patient with congenital myopathy with fiber-type disproportion. 2 Publications
VAR_070981
Natural varianti261 – 2611Y → C in DA1A; also found in patients with undefined congenital myopathy. 1 Publication
VAR_071498
Cap myopathy 2 (CAPM2) [MIM:609285]: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and non-progressive or slowly progressive muscle weakness. Respiratory problems are common.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491Missing in CAPM2. 1 Publication
VAR_070979
Natural varianti52 – 521G → GG in CAPM2. 1 Publication
VAR_070980
Natural varianti139 – 1391Missing in CAPM2; also found in a patient with congenital myopathy with fiber-type disproportion. 3 Publications
VAR_070982
Natural varianti202 – 2021N → K in CAPM2. 1 Publication
VAR_070983
Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331R → W in DA2B, NEM4 and DA1A; also found in a patient with congenital myopathy with fiber-type disproportion. 2 Publications
VAR_070981

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

MIMi108120. phenotype.
601680. phenotype.
609285. phenotype.
Orphaneti171881. Cap myopathy.
171439. Childhood-onset nemaline myopathy.
2020. Congenital fiber-type disproportion myopathy.
1146. Digitotalar dysmorphism.
1147. Sheldon-Hall syndrome.
3377. Trismus - pseudocamptodactyly.
171436. Typical nemaline myopathy.
PharmGKBiPA36691.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 284284Tropomyosin beta chainPRO_0000205627Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineBy similarity
Modified residuei53 – 531Phosphothreonine1 Publication
Modified residuei61 – 611Phosphoserine; by PIK3CGBy similarity
Modified residuei79 – 791Phosphothreonine1 Publication
Modified residuei108 – 1081Phosphothreonine1 Publication
Modified residuei158 – 1581Phosphoserine1 Publication
Modified residuei206 – 2061Phosphoserine1 Publication
Modified residuei252 – 2521Phosphothreonine1 Publication
Modified residuei282 – 2821Phosphothreonine1 Publication
Modified residuei283 – 2831Phosphoserine1 Publication

Post-translational modificationi

Phosphorylated on Ser-61 by PIK3CG. Phosphorylation on Ser-61 is required for ADRB2 internalization (By similarity).By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP07951.
PaxDbiP07951.
PRIDEiP07951.

2D gel databases

DOSAC-COBS-2DPAGEP07951.
REPRODUCTION-2DPAGEIPI00220709.
UCD-2DPAGEP07951.

PTM databases

PhosphoSiteiP07951.

Expressioni

Tissue specificityi

Present in primary breast cancer tissue, absent from normal breast tissue.1 Publication

Gene expression databases

BgeeiP07951.
CleanExiHS_TPM2.
ExpressionAtlasiP07951. baseline and differential.
GenevestigatoriP07951.

Interactioni

Subunit structurei

Heterodimer of an alpha and a beta chain.

Protein-protein interaction databases

BioGridi113022. 39 interactions.
IntActiP07951. 10 interactions.
MINTiMINT-94363.
STRINGi9606.ENSP00000354219.

Structurei

3D structure databases

ProteinModelPortaliP07951.
SMRiP07951. Positions 1-284.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1 – 284284By similarityAdd
BLAST

Domaini

The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity.

Sequence similaritiesi

Belongs to the tropomyosin family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG304012.
GeneTreeiENSGT00550000074494.
HOVERGENiHBG107404.
InParanoidiP07951.
KOiK10374.
OMAiTEPTHEC.
PhylomeDBiP07951.
TreeFamiTF351519.

Family and domain databases

InterProiIPR000533. Tropomyosin.
[Graphical view]
PfamiPF00261. Tropomyosin. 1 hit.
[Graphical view]
PRINTSiPR00194. TROPOMYOSIN.
PROSITEiPS00326. TROPOMYOSIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P07951-1) [UniParc]FASTAAdd to Basket

Also known as: Skeletal muscle

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDAIKKKMQM LKLDKENAID RAEQAEADKK QAEDRCKQLE EEQQALQKKL
60 70 80 90 100
KGTEDEVEKY SESVKEAQEK LEQAEKKATD AEADVASLNR RIQLVEEELD
110 120 130 140 150
RAQERLATAL QKLEEAEKAA DESERGMKVI ENRAMKDEEK MELQEMQLKE
160 170 180 190 200
AKHIAEDSDR KYEEVARKLV ILEGELERSE ERAEVAESKC GDLEEELKIV
210 220 230 240 250
TNNLKSLEAQ ADKYSTKEDK YEEEIKLLEE KLKEAETRAE FAERSVAKLE
260 270 280
KTIDDLEDEV YAQKMKYKAI SEELDNALND ITSL
Length:284
Mass (Da):32,851
Last modified:August 1, 1988 - v1
Checksum:i18E330568E14E0BE
GO
Isoform 2 (identifier: P07951-2) [UniParc]FASTAAdd to Basket

Also known as: non-muscle, Fibroblast TM36, Epithelial TMe1

The sequence of this isoform differs from the canonical sequence as follows:
     189-213: KCGDLEEELKIVTNNLKSLEAQADK → RARQLEEELRTMDQALKSLMASEEE
     258-284: DEVYAQKMKYKAISEELDNALNDITSL → ETLASAKEENVEIHQTLDQTLLELNNL

Show »
Length:284
Mass (Da):32,990
Checksum:i584D60A8A4D6E9CA
GO
Isoform 3 (identifier: P07951-3) [UniParc]FASTAAdd to Basket

Also known as: non-muscle

The sequence of this isoform differs from the canonical sequence as follows:
     1-80: MDAIKKKMQM...LEQAEKKATD → MAGISSIDAV...ADAERQARER
     189-213: KCGDLEEELKIVTNNLKSLEAQADK → RARQLEEELRTMDQALKSLMASEEE
     258-284: DEVYAQKMKYKAISEELDNALNDITSL → ETLASAKEENVEIHQTLDQTLLELNNL

Show »
Length:248
Mass (Da):28,684
Checksum:iD89A89A37CF9D026
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti89 – 891N → S in BAD96978. 1 PublicationCurated

Mass spectrometryi

Isoform 1 : Molecular mass is 32850.73 Da from positions 1 - 284. Determined by MALDI. 1 Publication
Isoform 2 : Molecular mass is 32989.81 Da from positions 1 - 284. Determined by MALDI. 1 Publication

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21D → V Probable disease-associated mutation found in patients with undefined congenital myopathy. 1 Publication
VAR_071485
Natural varianti3 – 31A → G in NEM4. 1 Publication
VAR_071486
Natural varianti7 – 71Missing in NEM4. 1 Publication
VAR_071487
Natural varianti14 – 141D → V in NEM4. 1 Publication
VAR_071488
Natural varianti41 – 411E → K in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion and patients with undefined congenital myopathy. 2 Publications
VAR_070978
Natural varianti49 – 491Missing in CAPM2. 1 Publication
VAR_070979
Natural varianti52 – 521G → GG in CAPM2. 1 Publication
VAR_070980
Natural varianti91 – 911R → G in DA1A. 1 Publication
VAR_016086
Natural varianti93 – 931Q → H Probable disease-associated mutation found in patients with undefined congenital myopathy. 1 Publication
VAR_071489
Natural varianti93 – 931Q → R in DA1A. 1 Publication
VAR_071490
Natural varianti117 – 1171E → A in NEM4. 1 Publication
VAR_013468
Natural varianti117 – 1171E → K in DA1A; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication
VAR_071491
Natural varianti128 – 1281K → E Probable disease-associated mutation found in a patient with congenital myopathy with fiber-type disproportion and patients with undefined congenital myopathy. 1 Publication
VAR_071492
Natural varianti133 – 1331R → P Probable disease-associated mutation found in a patient with congenital myopathy with fiber-type disproportion and patients with undefined congenital myopathy. 1 Publication
VAR_071493
Natural varianti133 – 1331R → W in DA2B, NEM4 and DA1A; also found in a patient with congenital myopathy with fiber-type disproportion. 2 Publications
VAR_070981
Natural varianti139 – 1391Missing in CAPM2; also found in a patient with congenital myopathy with fiber-type disproportion. 3 Publications
VAR_070982
Natural varianti143 – 1431L → P in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication
VAR_071494
Natural varianti147 – 1471Q → P in NEM4. 1 Publication
VAR_013469
Natural varianti148 – 1481L → P in NEM4; also found in a patient with congenital myopathy with fiber-type disproportion. 1 Publication
VAR_071495
Natural varianti155 – 1551A → T Probable disease-associated mutation found in patients with undefined congenital myopathy. 1 Publication
VAR_071496
Natural varianti202 – 2021N → K in CAPM2. 1 Publication
VAR_070983
Natural varianti218 – 2181Missing Probable disease-associated mutation in patients with undefined congenital myopathy. 1 Publication
VAR_071497
Natural varianti261 – 2611Y → C in DA1A; also found in patients with undefined congenital myopathy. 1 Publication
VAR_071498
Natural varianti273 – 2731E → K.
Corresponds to variant rs3180843 [ dbSNP | Ensembl ].
VAR_052402

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8080MDAIK…KKATD → MAGISSIDAVKKKIQSLQQV ADEAEERAEHLQREADAERQ ARER in isoform 3. CuratedVSP_006594Add
BLAST
Alternative sequencei189 – 21325KCGDL…AQADK → RARQLEEELRTMDQALKSLM ASEEE in isoform 2 and isoform 3. 4 PublicationsVSP_006595Add
BLAST
Alternative sequencei258 – 28427DEVYA…DITSL → ETLASAKEENVEIHQTLDQT LLELNNL in isoform 2 and isoform 3. 4 PublicationsVSP_006596Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M12126 mRNA. Translation: AAA61229.1.
M12125 mRNA. Translation: AAA36773.1.
X06825 mRNA. Translation: CAA29971.1.
M75165 mRNA. Translation: AAB59509.1.
M74817 mRNA. Translation: AAA61230.1.
AK223258 mRNA. Translation: BAD96978.1.
AL133410 Genomic DNA. Translation: CAI10974.1.
AL133410 Genomic DNA. Translation: CAI10977.1.
CH471071 Genomic DNA. Translation: EAW58354.1.
BC011776 mRNA. Translation: AAH11776.1.
AF209746 Genomic DNA. Translation: AAF17621.1.
J05247 Genomic DNA. Translation: AAA51842.1.
CCDSiCCDS6586.1. [P07951-2]
CCDS6587.1. [P07951-1]
PIRiA23562.
S00922.
RefSeqiNP_003280.2. NM_003289.3. [P07951-1]
NP_998839.1. NM_213674.1. [P07951-2]
XP_005251625.1. XM_005251568.1. [P07951-1]
UniGeneiHs.300772.

Genome annotation databases

EnsembliENST00000360958; ENSP00000354219; ENSG00000198467. [P07951-1]
ENST00000378292; ENSP00000367542; ENSG00000198467. [P07951-2]
GeneIDi7169.
KEGGihsa:7169.
UCSCiuc003zxq.3. human. [P07951-2]
uc003zxs.3. human. [P07951-1]

Polymorphism databases

DMDMi136090.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M12126 mRNA. Translation: AAA61229.1 .
M12125 mRNA. Translation: AAA36773.1 .
X06825 mRNA. Translation: CAA29971.1 .
M75165 mRNA. Translation: AAB59509.1 .
M74817 mRNA. Translation: AAA61230.1 .
AK223258 mRNA. Translation: BAD96978.1 .
AL133410 Genomic DNA. Translation: CAI10974.1 .
AL133410 Genomic DNA. Translation: CAI10977.1 .
CH471071 Genomic DNA. Translation: EAW58354.1 .
BC011776 mRNA. Translation: AAH11776.1 .
AF209746 Genomic DNA. Translation: AAF17621.1 .
J05247 Genomic DNA. Translation: AAA51842.1 .
CCDSi CCDS6586.1. [P07951-2 ]
CCDS6587.1. [P07951-1 ]
PIRi A23562.
S00922.
RefSeqi NP_003280.2. NM_003289.3. [P07951-1 ]
NP_998839.1. NM_213674.1. [P07951-2 ]
XP_005251625.1. XM_005251568.1. [P07951-1 ]
UniGenei Hs.300772.

3D structure databases

ProteinModelPortali P07951.
SMRi P07951. Positions 1-284.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113022. 39 interactions.
IntActi P07951. 10 interactions.
MINTi MINT-94363.
STRINGi 9606.ENSP00000354219.

PTM databases

PhosphoSitei P07951.

Polymorphism databases

DMDMi 136090.

2D gel databases

DOSAC-COBS-2DPAGE P07951.
REPRODUCTION-2DPAGE IPI00220709.
UCD-2DPAGE P07951.

Proteomic databases

MaxQBi P07951.
PaxDbi P07951.
PRIDEi P07951.

Protocols and materials databases

DNASUi 7169.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000360958 ; ENSP00000354219 ; ENSG00000198467 . [P07951-1 ]
ENST00000378292 ; ENSP00000367542 ; ENSG00000198467 . [P07951-2 ]
GeneIDi 7169.
KEGGi hsa:7169.
UCSCi uc003zxq.3. human. [P07951-2 ]
uc003zxs.3. human. [P07951-1 ]

Organism-specific databases

CTDi 7169.
GeneCardsi GC09M035672.
GeneReviewsi TPM2.
HGNCi HGNC:12011. TPM2.
MIMi 108120. phenotype.
190990. gene.
601680. phenotype.
609285. phenotype.
neXtProti NX_P07951.
Orphaneti 171881. Cap myopathy.
171439. Childhood-onset nemaline myopathy.
2020. Congenital fiber-type disproportion myopathy.
1146. Digitotalar dysmorphism.
1147. Sheldon-Hall syndrome.
3377. Trismus - pseudocamptodactyly.
171436. Typical nemaline myopathy.
PharmGKBi PA36691.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG304012.
GeneTreei ENSGT00550000074494.
HOVERGENi HBG107404.
InParanoidi P07951.
KOi K10374.
OMAi TEPTHEC.
PhylomeDBi P07951.
TreeFami TF351519.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.
REACT_20558. Smooth Muscle Contraction.

Miscellaneous databases

ChiTaRSi TPM2. human.
GeneWikii TPM2.
GenomeRNAii 7169.
NextBioi 28086.
PROi P07951.
SOURCEi Search...

Gene expression databases

Bgeei P07951.
CleanExi HS_TPM2.
ExpressionAtlasi P07951. baseline and differential.
Genevestigatori P07951.

Family and domain databases

InterProi IPR000533. Tropomyosin.
[Graphical view ]
Pfami PF00261. Tropomyosin. 1 hit.
[Graphical view ]
PRINTSi PR00194. TROPOMYOSIN.
PROSITEi PS00326. TROPOMYOSIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A muscle-type tropomyosin in human fibroblasts: evidence for expression by an alternative RNA splicing mechanism."
    MacLeod A.R., Houlker C., Reinach F.C., Smillie L.B., Talbot K., Modi G., Walsh F.S.
    Proc. Natl. Acad. Sci. U.S.A. 82:7835-7839(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    Tissue: Fibroblast.
  2. "Complete nucleotide sequence of the adult skeletal isoform of human skeletal muscle beta-tropomyosin."
    Widada J.S., Ferraz C., Capony J.-P., Liautard J.-P.
    Nucleic Acids Res. 16:3109-3109(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "A cDNA encoding a muscle-type tropomyosin cloned from a human epithelial cell line: identity with human fibroblast tropomyosin TM1."
    Prasad G.L., Meissner S., Sheer D.G., Cooper H.L.
    Biochem. Biophys. Res. Commun. 177:1068-1075(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Colon epithelium.
  4. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Gastric mucosa.
  5. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Pancreas.
  8. "Nucleotide sequence of the human TPM2 gene."
    Ben-Yosef T., Francomano C.A.
    Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-257 (ISOFORM 2).
  9. "A nonmuscle tropomyosin is encoded by the smooth/skeletal beta-tropomyosin gene and its RNA is transcribed from an internal promoter."
    Libri D., Mouly V., Lemonnier M., Fiszman M.Y.
    J. Biol. Chem. 265:3471-3473(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-44 (ISOFORM 3).
  10. "Protein content study revealed the presence of isoform 2 of beta-tropomyosin in primary breast cancer tissues from Sudanese patients."
    Ahamed M.E., Mohamed A.O., Ahmed M.E., Sirinuch B., Surasak J.
    Sudan J. Med. Sci. 2:183-187(2007)
    Cited for: PROTEIN SEQUENCE OF 36-48; 52-65; 141-149 AND 206-217 (ISOFORM 2), TISSUE SPECIFICITY.
    Tissue: Mammary cancer.
  11. "Cluster analysis of an extensive human breast cancer cell line protein expression map database."
    Harris R.A., Yang A., Stein R.C., Lucy K., Brusten L., Herath A., Parekh R., Waterfield M.D., O'Hare M.J., Neville M.A., Page M.J., Zvelebil M.J.
    Proteomics 2:212-223(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: MASS SPECTROMETRY.
    Tissue: Mammary cancer.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "Mutations in the beta-tropomyosin (TPM2) gene -- a rare cause of nemaline myopathy."
    Donner K., Ollikainen M., Ridanpaeae M., Christen H.J., Goebel H.H., de Visser M., Pelin K., Wallgren-Pettersson C.
    Neuromuscul. Disord. 12:151-158(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NEM4 ALA-117 AND PRO-147.
  14. "Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes."
    Sung S.S., Brassington A.-M.E., Grannatt K., Rutherford A., Whitby F.G., Krakowiak P.A., Jorde L.B., Carey J.C., Bamshad M.
    Am. J. Hum. Genet. 72:681-690(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DA1A GLY-91.
  15. "Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)."
    Tajsharghi H., Ohlsson M., Lindberg C., Oldfors A.
    Arch. Neurol. 64:1334-1338(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NEM4 LYS-41.
  16. "Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation."
    Tajsharghi H., Kimber E., Holmgren D., Tulinius M., Oldfors A.
    Neurology 68:772-775(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DA2B TRP-133.
  17. Cited for: VARIANT CAPM2 GLU-139 DEL.
  18. "New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations."
    Ohlsson M., Quijano-Roy S., Darin N., Brochier G., Lacene E., Avila-Smirnow D., Fardeau M., Oldfors A., Tajsharghi H.
    Neurology 71:1896-1901(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CAPM2 LYS-49 DEL; GLY-52 INS AND LYS-202.
  19. "Cap disease due to mutation of the beta-tropomyosin gene (TPM2)."
    Clarke N.F., Domazetovska A., Waddell L., Kornberg A., McLean C., North K.N.
    Neuromuscul. Disord. 19:348-351(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CAPM2 GLU-139 DEL.
  20. Cited for: VARIANTS NEM4 GLY-3; LYS-7 DEL; VAL-14; LYS-41; TRP-133; PRO-143 AND PRO-148, VARIANTS DA1A ARG-93; LYS-117; TRP-133 AND CYS-261, VARIANT CAPM2 GLU-139 DEL, VARIANTS VAL-2; HIS-93; GLU-128; PRO-133; THR-155 AND GLU-218 DEL, PHOSPHORYLATION AT THR-53; THR-79; THR-108; SER-158; SER-206; THR-252; THR-282 AND SER-283.

Entry informationi

Entry nameiTPM2_HUMAN
AccessioniPrimary (citable) accession number: P07951
Secondary accession number(s): A6NM85
, P06468, Q13894, Q53FM4, Q5TCU4, Q5TCU7, Q9UH67
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: August 1, 1988
Last modified: October 29, 2014
This is version 157 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

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