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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TPM3 Gene

protein-coding GIFtS: 68
GCID: GC01M154127

tropomyosin 3

(Previous symbol: NEM1)

Explore 29 diseases affiliated with
TPM3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tropomyosin 3¹ ²		TPMsk3²
NEM1¹ ² ⁵		Cytoskeletal Tropomyosin TM30²
TRK¹ ²		Heat-Stable Cytoskeletal Protein 30 KDa²
HTM5¹		Hscp30¹
CFTD²		Tropomyosin Alpha-3 Chain²
OK/SW-Cl.5¹		Tropomyosin Gamma²
TM-5²		Tropomyosin-5³
TM3²		Gamma-Tropomyosin¹
TM30²		Tropomyosin-3³
TM30nm²		Tropomyosin-5³
TM5²

External Ids:	HGNC: 12012¹	Entrez Gene: 7170²	Ensembl: ENSG00000143549⁷	OMIM: 191030⁵	UniProtKB: P06753³

Export aliases for TPM3 gene to outside databases

Previous GC identifers: GC01U990171 GC01M149859 GC01M150904 GC01M151345 GC01M150941 GC01M152395 GC01M125491

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TPM3:

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. Mutations in this gene result in autosomal dominant nemaline myopathy,

and oncogenes formed by chromosomal translocations involving this locus are associated with cancer. Multiple

transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TPM3_HUMAN, P06753

Function: 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

Gene Wiki entry for TPM3 (Tropomyosin 3)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TPM3 gene promoter:
POU3F1 ARP-1 Zic3 Pax-4a MRF-2 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TPM3 promoter sequence

Search SABiosciences Chromatin IP Primers for TPM3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TPM3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.2 Ensembl cytogenetic band: 1q21.3 HGNC cytogenetic band: 1q21.2

TPM3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPM3 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M154127: view genomic region (about GC identifiers)

Start:	154,127,780 bp from pter	End:	154,167,124 bp from pter
Size:	39,345 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TPM3_HUMAN, P06753 (See protein sequence)

Recommended Name: Tropomyosin alpha-3 chain

Size: 284 amino acids; 32819 Da

Subunit: Heterodimer of an alpha and a beta chain. Binds to TMOD1

Subcellular location: Cytoplasm, cytoskeleton

Sequence caution: Sequence=AAH08407.1; Type=Erroneous initiation; Sequence=AAH08425.1; Type=Erroneous initiation;

Sequence=CAA27798.1; Type=Erroneous initiation;

Secondary accessions: D3DV71 P12324 Q2QD06 Q5VU71 Q969Q2 Q9NQH8

Alternative splicing: 3 isoforms: P06753-1 P06753-2 P06753-3 (Peptides 2-27, 41-55, 132-153 and 163-169 have been identified and sequenced by MS. Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a N6-acetyllysine at position 177)

Explore the universe of human proteins at neXtProt for TPM3: NX_P06753

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P06753

TPM3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001036816.1 NP_001036817.1 NP_001036818.1 NP_689476.2 NP_705935.1

ENSEMBL proteins:

ENSP00000357521 ENSP00000341653 ENSP00000339035 ENSP00000339378 ENSP00000357520

ENSP00000426521 ENSP00000271850 ENSP00000307712 ENSP00000357517 ENSP00000357518

ENSP00000357516 ENSP00000422207 ENSP00000426306

Reactome Protein details: P06753
Human Recombinant Protein Products:

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	Novus Biologicals TPM3 Proteins Novus Biologicals TPM3 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for TPM3
	Uscn Proteins for TPM3

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	IDA	16236705
GO:0002102	podosome	--	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	TAS	16130169

TPM3 for ontologies About GeneDecksing

TPM3 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TPM3
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	Novus Biologicals TPM3 Antibodies
	Abcam antibodies for TPM3
	Uscn Antibodies for TPM3
	Search ThermoFisher Antibodies for TPM3

Assay Products for TPM3:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TPM3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TPM3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TPM3 for domains About GeneDecksing

1 InterPro domain/family:

IPR000533 Tropomyosin

Graphical View of Domain Structure for InterPro Entry P06753

ProtoNet protein and cluster: P06753

1 Blocks protein family: IPB000533 Tropomyosin

UniProtKB/Swiss-Prot: TPM3_HUMAN, P06753

Domain: The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a

prominent seven-residues periodicity

Similarity: Belongs to the tropomyosin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TPM3_HUMAN, P06753

Function: 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

Genatlas biochemistry entry for TPM3:

tropomyosin 3,alpha,skeletal muscle and non muscle isoforms (involved in the generation of the TRK oncogene by fusion

with NTRK1,dimerizing to form a helical coiled coil binding to actin in the troponin complex (thin filamant) that

regulates calcium-dependent binding of actin and myosin and muscle contraction

miRNA Products:		miRTarBase miRNAs that target TPM3: hsa-mir-16 (MIRT001403), hsa-mir-1 (MIRT001325)

		OriGene 3'-UTR Clone (see all 5): TPM3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TPM3
		8/120 QIAGEN miScript miRNA Assays for microRNAs that regulate TPM3 (see all 120):
		hsa-miR-194* hsa-miR-3130-5p hsa-miR-3194-5p hsa-miR-607 hsa-miR-640 hsa-miR-3938 hsa-miR-1321 hsa-miR-4272

		SwitchGear 3'UTR luciferase reporter plasmid: TPM3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TPM3 (see all 7) OriGene shRNA RFP: TPM3 OriGene siRNA: TPM3
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TPM3

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		GenScript: all cDNA clones in your preferred vector (see all 5): TPM3 (NM_001043351)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TPM3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPM3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TPM3
		Search LifeMap BioReagents cell lines for TPM3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPM3

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0003779	actin binding	IEA	--

TPM3 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for TPM3: Tpm3^tm1Pgun Tpm3^tm2Pgun
     2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tpm3):

mortality/aging

nervous system

TPM3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Muscle contraction	0.65
	Striated Muscle Contraction	0.87			Smooth Muscle Contraction	0.11

Hypertrophic cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM)

1.00

Dilated cardiomyopathy

0.75

Cardiac muscle contraction

Cardiac muscle contraction

1.00

Pathways in cancer

Pathways in cancer

1.00

Maintenance of PPARG Expression in Differentiated Adipocytes

Thyroid cancer

0.03

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for TPM3

Striated Muscle Contraction

3 Reactome Pathways for TPM3

	Smooth Muscle Contraction
	Muscle contraction
	Striated Muscle Contraction

5 Kegg Pathways (Kegg details for TPM3):

	Cardiac muscle contraction
	Pathways in cancer
	Thyroid cancer
	Hypertrophic cardiomyopathy (HCM)
	Dilated cardiomyopathy

TPM3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TPM3

5/38 Interacting proteins for TPM3 (P06753^{1, 2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 38)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KXD1	Q9BQD3²^,³	MINT-67147 I2D: score=4
HSP90AB1	P08238²^,³	MINT-72660 I2D: score=3
IKBKE	Q14164²^,³	MINT-48121 I2D: score=3
SMAD3	P84022²^,³	MINT-51244 I2D: score=3
CHUK	O15111²^,³	MINT-48058 I2D: score=2

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006928	cellular component movement	TAS	16130169
GO:0006936	muscle contraction	TAS	--
GO:0006937	regulation of muscle contraction	NAS	--
GO:0030049	muscle filament sliding	TAS	--

TPM3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TPM3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TPM3

1 HMDB Compound for TPM3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

2 Novoseek chemical compound relationships for TPM3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	30	2	7956350 (1), 7565764 (1)
calcium	0	1	10540182 (1)

Search CenterWatch for drugs/clinical trials and news about TPM3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TPM3 gene (5 alternative transcripts):

NM_001043351.1 NM_001043352.1 NM_001043353.1 NM_152263.2 NM_153649.3

Unigene Clusters for TPM3:

Tropomyosin 3

Hs.644306 [show with all ESTs], Hs.654421 [show with all ESTs]

Unigene Representative Sequences: NM_152263, BQ057452

18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):

ENST00000368533(uc001fdx.1 uc010pei.1 uc001fdy.1 uc001fdz.1 uc001fea.1 uc001feb.1 uc010pej.1)

ENST00000368545 ENST00000469717 ENST00000341485 ENST00000330188 ENST00000341372

ENST00000328159(uc001fed.1) ENST00000509409 ENST00000271850 ENST00000312970

ENST00000513769 ENST00000302206 ENST00000368531 ENST00000323144 ENST00000368530(uc001fec.1)

ENST00000504663 ENST00000509601 ENST00000505010

miRNA Products:		OriGene 3'-UTR Clone (see all 5): TPM3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TPM3
		8/120 QIAGEN miScript miRNA Assays for microRNAs that regulate TPM3 (see all 120):
		hsa-miR-194* hsa-miR-3130-5p hsa-miR-3194-5p hsa-miR-607 hsa-miR-640 hsa-miR-3938 hsa-miR-1321 hsa-miR-4272

		SwitchGear 3'UTR luciferase reporter plasmid: TPM3 3' UTR sequence

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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TPM3 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TPM3 (see all 6) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TPM3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TPM3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TPM3

Additional cDNA sequence:

AF474157.1 AK315504.1 M12128.1

24/78 DOTS entries (see all 78):

DT.100687282 DT.91779772 DT.91779823 DT.100687277 DT.100687269 DT.91779856 DT.456355 DT.95377919

DT.121385379 DT.100052170 DT.121385298 DT.92340111 DT.95281999 DT.100687261 DT.100687262 DT.91883204

DT.121385407 DT.121385402 DT.121385366 DT.121385396 DT.121385409 DT.91779811 DT.120727920 DT.423630

24/1845 AceView cDNA sequences (see all 1845):

BM773100 BU192346 BM803194 BM785672 AW189311 BQ675774 BM811345 H63322

CR589996 AL711022 AL710993 BQ957721 AK056997 CN484351 CB160713 BU174174

AI563883 BQ919460 AA127662 BQ420281 BM772124 N35237 BQ687261 AI660760

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TPM3 (see all 6) About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9a	·	9b	^	10a	·	10b	^	11	^	12	^	13
SP1:																													-		-		-
SP2:
SP3:											-
SP4:																													-
SP5:			-

ECgene alternative splicing isoforms for TPM3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TPM3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAAACTCAT

About this image

TPM3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/15 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 15)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Dorsal Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Multinuclear Myocytes

Skeletal Muscle

Anterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Cervical Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Vertebrae Column Muscles

Multinuclear Myocytes

Skeletal Muscle

Pelvic Muscles

Multinuclear Myocytes

Skeletal Muscle

Posterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

ES04(HES-4) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See TPM3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TPM3

SOURCE GeneReport for Unigene clusters: Hs.644306 Hs.654421

SABiosciences Custom PCR Arrays for TPM3

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPM3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TPM3 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	TPM3⁶ TPM1⁶ (see all 3)	--	68(a) 61(a) (see all 3)	possible ortholog possible ortholog (see all 3)	GL344238.1(6337-9084) AAWZ02037793(3041-7823)
African clawed frog (Xenopus laevis)	Amphibia	Xl.34726²	Xenopus laevis, Similar to tropomyosin 3, gamma, clone more	78.37(n)		BC043980.1
zebrafish (Danio rerio)	Actinopterygii	BC044420.1²	--	77.35(n)		BC044420.1
fruit fly (Drosophila melanogaster)	Insecta	Tm2⁶ Tm1⁶	Tropomyosin 1	46(a) 20(a)	possible ortholog possible ortholog	3R(11135915-11140919) 3R(11107093-11134501)
worm (Caenorhabditis elegans)	Secernentea	lev-11¹	Protein LEV-11	59.69(n) 59.57(a)		173319 NM_001026524.4 NP_001021695.1

ENSEMBL Gene Tree for TPM3 (if available)
TreeFam Gene Tree for TPM3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TPM3 gene

TPM1² TPM4² TPM2²

6 SIMAP similar genes for TPM3 using alignment to 13 protein entries: TPM3_HUMAN (see all proteins):

TPM4 TPM1 OK/SW-cl.5 TPM2 TPM2b DKFZp686J1372

TPM3 for paralogs About GeneDecksing

5/9 Pseudogenes.org Pseudogenes for TPM3 (see all 9)
PGOHUM00000258959 PGOHUM00000234701 PGOHUM00000234771 PGOHUM00000234773 PGOHUM00000247515

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113605263^1,2	C	pathogenic	125503764(+)	`ATTATA/C/G/T TGTAT`	5	--	int¹ spa¹		1		CSA	1
rs121964852^1,2	C	pathogenic	125508794(-)	`GGCTCA/GTAAGT`	10	H R	mis¹		0	--	--	--	--
rs121964854^1,2	C	pathogenic	125508795(-)	`TGGCTC/G/TGTAAG`	15	R G C	mis¹		0	--	--	--	--
rs121964853^1,2	C	pathogenic	125512028(-)	`AAGAGA/CTGGAC`	10	M L	mis¹		0	--	--	--	--
rs80358248^1,2	C	pathogenic	125527729(-)	`AGAAGC/TAGGCA`	2	Q *	stg¹		0	--	--	--	--
rs80358247^1,2	C	pathogenic	125527797(-)	`AAAGAG/TGCAGA`	2	R M	mis¹		0	--	--	--	--
rs4078456^1,2	C,F,H	--	125491472(-)	`TGGATA/GTTTGG`	4	--	ut3¹		6		NS EA NA	424
rs11577138^1,2	C,H	--	125492344(+)	`ACAGAA/CCTCCT`	4	--	ut3¹ ese³		0	--	--	--	--
rs59151413^1,2		--	125492376(+)	`GGACTA/GGGTAG`	4	--	ut3¹		0	--	--	--	--
rs55840215^1,2		--	125492386(+)	`GGGAAA/GGAAAC`	4	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TPM3 (154127780 - 154167124 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for TPM3
4 CNVs: 65006 84589 84590 84588
Human Gene Mutation Database (HGMD): TPM3

Locus Specific Mutation Databases (LSDB): TPM3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TPM3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TPM3 for disorders           About GeneDecksing

OMIM gene information: 191030
OMIM disorders: 609284
UniProtKB/Swiss-Prot: TPM3_HUMAN, P06753

Defects in TPM3 are the cause of nemaline myopathy type 1 (NEM1) [MIM:609284]. A form of nemaline myopathy

with autosomal dominant or recessive inheritance. Nemaline myopathies are muscular disorders characterized by muscle

weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic

examination. Autosomal dominant nemaline myopathy type 1 is characterized by a moderate phenotype with onset between

birth and early second decade of life. Weakness is diffuse and symmetric with slow progression often with need for a

wheelchair in adulthood. The autosomal recessive form has onset at birth with moderate-to-severe hypotonia and diffuse

weakness. In the most severe cases, death can occur before 2 years. Less severe cases have delayed major motor

milestones, and these patients may walk, but often need a wheelchair before 10 years

Defects in TPM3 are a cause of thyroid papillary carcinoma (TPC) [MIM:188550]. TPC is a common tumor of the

thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary

carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of

fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=A chromosomal aberration

involving TPM3 is found in thyroid papillary carcinomas. A rearrangement with NTRK1 generates the TRK fusion

transcript by fusing the amino end of isoform 2 of TPM3 to the 3'-end of NTRK1

20/29 diseases for TPM3 (see all 29): About MalaCards

nemaline myopathy nemaline myopathy 1, autosomal dominant congenital fiber-type disproportion myopathy

nemaline myopathy 1 cap myopathy anaplastic large cell lymphoma myotonic dystrophy

congenital myotonic dystrophy hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy b-cell lymphomas

reticulosarcoma papillary thyroid carcinoma congenital fibrosarcoma cardiomyopathy

thyroid carcinoma thyroiditis myasthenia hypotonia

5 diseases from the University of Copenhagen DISEASES database for TPM3:

Nemaline myopathy Anaplastic large cell lymphoma Hypertrophic cardiomyopathy Distal arthrogryposis

Reticulosarcoma

4 Novoseek disease relationships for TPM3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nemaline myopathy autosomal dominant	95.9	4	7956350 (1), 12163017 (1), 7704029 (1)
myopathies nemaline	94.2	12	19953533 (3), 18716557 (2), 18382475 (1), 19648653 (1) (see all 7)
thyroid papillary carcinoma	63.3	3	10216106 (1), 10646882 (1), 7590742 (1)
tumors	0	2	10074915 (1), 7590742 (1)

GeneTests: TPM3

Nemaline Myopathy

Genetic Association Database (GAD): TPM3
Human Genome Epidemiology (HuGE) Navigator: TPM3 (3 documents)

Export disorders for TPM3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TPM3 gene, integrated from 9 sources (see all 119):
(articles sorted by number of sources associating them with TPM3)

Utopia: connect your pdf to the dynamic
world of online information

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. (PubMed id 7704029)^{1, 2, 9} Laing N.G.... Haan E. (1995)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. (PubMed id 12196661)^{1, 4} Wattanasirichaigoon D....Beggs A.H. (2002)
A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. (PubMed id 10587521)^{1, 2} Michele D.E.... Metzger J.M. (1999)
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. (PubMed id 7663526)^{1, 2} Laing N.G....Love D.R. (1995)
Erythrocyte tropomodulin binds to the N-terminus of hTM5, a tropomyosin isoform encoded by the gamma-tropomyosin gene. (PubMed id 8002995)^{1, 2} Sung L.A. and Lin J.J.-C. (1994)
Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes. (PubMed id 1286667)^{1, 2} Rasmussen H.H....Vandekerckhove J. (1992)
Localization of the TRK proto-oncogene to human chromosome bands 1q23-1q24. (PubMed id 1829807)^{1, 3} Morris C.M....Groffen J. (1991)
Organization of the hTMnm gene. Implications for the evolution of muscle and non-muscle tropomyosins. (PubMed id 3418707)^{1, 2} Clayton L.... MacLeod A.R. (1988)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7170	HGNC: 12012	AceView: TPM3	Ensembl:ENSG00000143549	euGenes: HUgn7170
ECgene: TPM3	Kegg: 7170	H-InvDB: TPM3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TPM3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TPM3	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TPM3

Intellectual Property for TPM3 gene
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Patent Information for TPM3 gene:
Search GeneIP for patents involving TPM3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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TPM3 (Gene Symbol)
Tropomyosin 3
NEM1
TRK
HTM5
CFTD
OK/SW-Cl.5
TM-5
TM3
TM30
TM30nm
TM5
TPMsk3
Cytoskeletal Tropomyosin TM30
Heat-Stable Cytoskeletal Protein 30 KDa
Hscp30
Tropomyosin Alpha-3 Chain
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tropomyosin 3

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