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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYOT Gene

protein-coding GIFtS: 53
GCID: GC05P137203

myotilin

(Previous names: titin immunoglobulin domain protein (myotilin), limb-girdle...)
(Previous symbols: TTID, LGMD1A, LGMD1)

Explore 23 diseases affiliated with
MYOT 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
Myotilin¹		Myofibrillar Titin-Like Ig Domains Protein² ³
TTID¹ ² ³ ⁵		57 KDa Cytoskeletal Protein² ³
LGMD1¹ ²		Limb-Girdle Muscular Dystrophy 1A (Autosomal Dominant)¹
LGMD1A¹ ²		Titin Immunoglobulin Domain Protein³
Titin Immunoglobulin Domain Protein (Myotilin)¹ ²

External Ids:	HGNC: 12399¹	Entrez Gene: 9499²	Ensembl: ENSG00000120729⁷	OMIM: 604103⁵	UniProtKB: Q9UBF9³

Export aliases for MYOT gene to outside databases

Previous GC identifers: GC05P137232 GC05P137233 GC05P132395

(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 MYOT:

This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during

muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced

filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar

myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length

nature of some of these variants has not been determined.(provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: MYOTI_HUMAN, Q9UBF9

Function: Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril

assembly and stability at the Z lines in muscle cells

Gene Wiki entry for MYOT (Myotilin)

(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_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYOT gene promoter:
MEF-2 Meis-1b C/EBPalpha MEF-2A POU2F1 POU2F1a Meis-1a aMEF-2 RSRFC4 Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYOT promoter sequence

Search SABiosciences Chromatin IP Primers for MYOT

Epigenetics:

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

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

Entrez Gene cytogenetic band: 5q31 Ensembl cytogenetic band: 5q31.2 HGNC cytogenetic band: 5q31.2

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

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P137203: view genomic region (about GC identifiers)

Start:	137,203,480 bp from pter	End:	137,223,540 bp from pter
Size:	20,061 bases	Orientation:	plus 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: MYOTI_HUMAN, Q9UBF9 (See protein sequence)

Recommended Name: Myotilin

Size: 498 amino acids; 55395 Da

Subunit: Homodimer. Interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC and MYOZ2. Interacts with the C-terminal region of

MYOZ1

Subcellular location: Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line.

Note=Sarcomeric, also localized to the sarcolemma. Colocalizes with MYOZ1 at the Z-lines in skeletal muscle

2 PDB 3D structures from and Proteopedia for MYOT:

2KDG (3D)

2KKQ (3D)

Secondary accessions: A0A4R6 B4DT79

Alternative splicing: 2 isoforms: Q9UBF9-1 Q9UBF9-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYOT: NX_Q9UBF9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UBF9

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

REFSEQ proteins (2 alternative transcripts):

NP_001129412.1 NP_006781.1

ENSEMBL proteins:

ENSP00000239926 ENSP00000391185 ENSP00000426281

Human Recombinant Protein Products for MYOT:

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	Novus Biologicals MYOT Proteins Novus Biologicals MYOT Lysates
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	Uscn Proteins for MYOT

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0015629	actin cytoskeleton	TAS	10369880
GO:0030018	Z disc	IEA	--
GO:0042383	sarcolemma	IEA	--

MYOT for ontologies About GeneDecksing

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Assay Products for MYOT:

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	Uscn ELISAs and CLIAs for MYOT

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

MYOT for domains About GeneDecksing

5 InterPro domains/families:

IPR003598 Ig_sub2

IPR007110 Ig-like_dom

IPR003599 Ig_sub

IPR013098 Ig_I-set

IPR013783 Ig-like_fold

Graphical View of Domain Structure for InterPro Entry Q9UBF9

ProtoNet protein and cluster: Q9UBF9

UniProtKB/Swiss-Prot: MYOTI_HUMAN, Q9UBF9

Similarity: Belongs to the myotilin/palladin family

Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: MYOTI_HUMAN, Q9UBF9

Function: Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril

assembly and stability at the Z lines in muscle cells

Genatlas biochemistry entry for MYOT:

myotilin,cytoskeletal protein,expressed in skeletal and cardiac muscle,colocalizing and interacting with alpha-actinin

in the sarcomeric I bands,also expressed in the sarcolemmal membrane

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005515	protein binding	IPI	11038172
GO:0008307	structural constituent of muscle	TAS	10958653

MYOT for ontologies About GeneDecksing

Phenotypes:
2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Myot):

no phenotypic analysis

normal

MYOT for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Myot^tm1.1Moza for MYOT

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MYOT

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MYOT Browse MicroRNA Expression Plasmids
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOT

(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

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/10 Interacting proteins for MYOT (Q9UBF9^{1, 3} ENSP00000239926⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FLNC	Q14315¹^,³, ENSP00000327145⁴	EBI-296701,EBI-489954 I2D: score=3 STRING: ENSP00000327145
LRP12	Q9Y561³, ENSP00000276654⁴	I2D: score=2 STRING: ENSP00000276654
ST7	Q9NRC1³, ENSP00000265437⁴	I2D: score=1 STRING: ENSP00000265437
TRIM63	Q969Q1³, ENSP00000363390⁴	I2D: score=1 STRING: ENSP00000363390
ACTN1	P12814³, ENSP00000377941⁴	I2D: score=1 STRING: ENSP00000377941

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006936	muscle contraction	TAS	10958653

MYOT 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MYOT
Search CenterWatch for drugs/clinical trials and news about MYOT / MYOTI

(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, Sirion Biotech, 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 MYOT gene (2 alternative transcripts):

NM_001135940.1 NM_006790.2

Unigene Cluster for MYOT:

Myotilin

Hs.84665 [show with all ESTs]

Unigene Representative Sequence: NM_006790

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000239926(uc011cye.2 uc003lbv.3 uc011cyg.2 uc011cyh.2)

ENST00000421631 ENST00000511625 ENST00000509812 ENST00000515645 ENST00000511254

ENST00000503748 ENST00000508938

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYOT
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Additional cDNA sequence:

AF133820.2 AF144477.1 AK300076.1 AK300088.1 AK307620.1 AK312733.1 BC005376.1

13 DOTS entries:

DT.412887 DT.100780927 DT.92447848 DT.92447832 DT.95378067 DT.95378049 DT.75125778 DT.91733797

DT.95106212 DT.92447847 DT.95288332 DT.101964815 DT.92447830

24/164 AceView cDNA sequences (see all 164):

BF126327 AI554082 BQ719314 BF436949 BF589170 AA780078 Z28788 F30875

NM_006790 AA180042 AI375478 BC005376 AI675624 AF133820 AF144477 AW016729

BF791242 AA194693 BF792590 CD678591 CF552694 AI452739 F35978 AL599056

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for MYOT (see all 8) About this scheme

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

ECgene alternative splicing isoforms for MYOT

(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

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

About this image

MYOT expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Interscapular Brown Adipose Depot

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SOURCE GeneReport for Unigene cluster: Hs.84665

UniProtKB/Swiss-Prot: MYOTI_HUMAN, Q9UBF9

Tissue specificity: Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow

and thyroid gland

SABiosciences Expression via Pathway-Focused PCR Array including MYOT:

Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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In Situ
Assay Products:

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(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 MYOT gene from 7/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Myot^{1 , 5}	myotilin^{1, 5}	87.23(n)¹ 89.72(a)¹		18 (23.74 cM)⁵ 58916¹ NM_001033621.3¹ NP_001028793.1¹ 44334074⁵
chicken (Gallus gallus)	Aves	MYOT¹	myotilin	70.93(n) 67.56(a)		416299 XM_414618.3 XP_414618.3
lizard (Anolis carolinensis)	Reptilia	-- MYOT⁶	--	65(a)	possible ortholog 1 ↔ 1	GL343320.1(1038265-1042602) 2(142280655-142296051)
African clawed frog (Xenopus laevis)	Amphibia	Xl.18672²	Xenopus laevis transcribed sequence with weak similarity more	73.72(n)		BX843718.1
zebrafish (Danio rerio)	Actinopterygii	LOC100329862¹	palladin-like	51.89(n) 43.3(a)		100329862 XM_002664328.2 XP_002664374.2
honey bee (Apis mellifera)	Insecta	-- --	--	9(a) 2(a)	many → 1 many → 1	GroupUn.2804(2229-4593) Group7.17(272732-304564)
worm (Caenorhabditis elegans)	Secernentea	unc-89⁶	Muscle M-line assembly protein unc-89	1(a)	possible ortholog	I(4035746-4090963)

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

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

Paralogs for MYOT gene

MYPN² PALLD²

5 SIMAP similar genes for MYOT using alignment to 2 protein entries: MYOTI_HUMAN (see all proteins):

KIAA0992 DKFZp586L0518 PALLD MYPN FGFR3

MYOT for paralogs About GeneDecksing

(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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121908458^1,2	C	pathogenic	135555078(+)	`GAGCTC/G/TTCACA`	4	S C F	int¹ mis¹		0	--	--	--	--
rs28937597^1,2	C	pathogenic	135555087(+)	`CTCAAC/TACTGA`	3	T I	int¹ mis¹ ese³		1		NA	2
rs3756687^1,2	C,F,A,H	--	132393506(-)	`TAAATT/CCCCAA`	2	--	us2k¹		20		EA NS NA WA CSA	3716
rs7736075^1,2	C,F,A	--	132393812(+)	`attttA/Taaatt`	2	--	us2k¹		1		WA	118
rs1543262^1,2	H	--	132393915(+)	`AGTTCT/CGATCA`	2	--	us2k¹		4		NS EA	414
rs7718474^1,2	C,F	--	132393921(+)	`gatcaT/Catcac`	2	--	us2k¹		1		WA	118
rs700613^1,2	C,F,O,H	--	132394014(+)	`TACTCA/CTAATA`	2	--	us2k¹		29		NS EA NA	2602
rs7736933^1,2	C,F,A,H	--	132394108(+)	`TGTCTG/CTATTA`	2	--	us2k¹		10		NS EA NA WA	780
rs73790070^1,2	C	--	132394835(+)	`ACCTCG/AGAACA`	2	--	us2k¹		2		WA	120
rs113963023^1,2		--	132395172(+)	`TTCACA/GTCTGA`	2	--	us2k¹		1		CSA	1

HapMap Linkage Disequilibrium report for MYOT (137203480 - 137223540 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MYOT: --
Human Gene Mutation Database (HGMD): MYOT

Locus Specific Mutation Databases (LSDB): MYOT

SABiosciences Cancer Mutation PCR Assays

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

DNA2.0 Custom Variant and Variant Library Synthesis for MYOT

(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

MYOT for disorders           About GeneDecksing

OMIM gene information: 604103
OMIM disorders: 159000  609200  182920
UniProtKB/Swiss-Prot: MYOTI_HUMAN, Q9UBF9

Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000]. LGMD1A is an

autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by

progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as

well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the

Z-line

Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:609200]. A neuromuscular disorder

characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords,

hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and

streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other

ectopically expressed proteins and prominent congophilic deposits

Defects in MYOT are the cause of spheroid body myopathy (SBM) [MIM:182920]. SBM is an autosomal dominant form

of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal

speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers

20/23 diseases for MYOT (see all 23): About MalaCards

limb-girdle muscular dystrophy muscular dystrophy myofibrillar myopathy myopathy

spheroid body myopathy tibial muscular dystrophy cataract skeletal anomalies treacher collins syndrome

nemaline myopathy neuromuscular disease congenital muscular dystrophy myotilinopathy

peripheral neuropathy cataract dilated cardiomyopathy congenital cataracts

myopathy congenital cardiomyopathy neuropathy pharyngitis

2 diseases from the University of Copenhagen DISEASES database for MYOT:

Myopathy Neuropathy

10/15 Novoseek disease relationships for MYOT gene (see all 15) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lgmd1a	97.7	16	11335118 (3), 18335471 (3), 12428213 (2), 12899871 (1) (see all 10)
spheroid body myopathy	95.1	3	16380616 (2), 16801328 (1)
lgmd2g	88.9	3	15316618 (1), 12379311 (1)
limb girdle	88.8	8	19458539 (2), 10958653 (1), 16076904 (1), 17056257 (1) (see all 6)
distal myopathies	88.6	7	16674563 (2), 19458539 (2), 19027924 (1)
myopathy	87.2	31	19458539 (2), 15752755 (2), 17005401 (1), 19047374 (1) (see all 23)
muscular dystrophy limb-girdle	86.6	8	10369880 (1), 12899871 (1), 15947064 (1), 12499399 (1) (see all 8)
muscular dystrophies	80.9	10	19458539 (2), 10958653 (1), 16076904 (1), 17056257 (1) (see all 7)
myopathies nemaline	79.4	6	12899871 (4)
lgmd2b	74.3	1	15316618 (1)

GeneTests: MYOT

Myofibrillar Myopathy

Human Genome Epidemiology (HuGE) Navigator: MYOT (3 documents)

Export disorders for MYOT 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 MYOT gene, integrated from 9 sources (see all 84):
(articles sorted by number of sources associating them with MYOT)

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

TTID: a novel gene at 5q31 encoding a protein with titin-like features. (PubMed id 10486214)^{1, 2, 3, 9} Godley L.A.... Le Beau M.M. (1999)
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. (PubMed id 10369880)^{1, 2, 3, 9} Salmikangas P....Carpen O. (1999)
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. (PubMed id 12499399)^{1, 2, 9} Salmikangas P....Carpen O. (2003)
Solution structure of the first immunoglobulin domain of human myotilin. (PubMed id 19418025)^{1, 2, 9} Heikkinen O....Kilpelaeinen I. (2009)
The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. (PubMed id 16076904)^{1, 2, 9} Gontier Y.... Borradori L. (2005)
A mutation in myotilin causes spheroid body myopathy. (PubMed id 16380616)^{1, 2, 9} Foroud T.... Nichols W.C. (2005)
Myotilin mutation found in second pedigree with LGMD1A. (PubMed id 12428213)^{1, 2, 9} Hauser M.A.... Rosa A.L. (2002)
Mutations in myotilin cause myofibrillar myopathy. (PubMed id 15111675)^{1, 2, 9} Selcen D. and Engel A.G. (2004)
Myotilin is mutated in limb girdle muscular dystrophy 1A. (PubMed id 10958653)^{1, 2, 9} Hauser M.A.... Speer M.C. (2000)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 9499	HGNC: 12399	AceView: TTID	Ensembl:ENSG00000120729	euGenes: HUgn9499
ECgene: MYOT	H-InvDB: MYOT

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MYOT	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYOT

Intellectual Property for MYOT gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MYOT gene:
Search GeneIP for patents involving MYOT

GeneCards and IP:
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