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(Q18034331)
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English
MYOT
protein-coding gene in the species Homo sapiens
LGMD1
LGMD1A
MFM3
TTID
TTOD
myotilin
In more languages
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Statements
instance of
gene
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
subclass of
protein-coding gene
1 reference
stated in
Ensembl Release 87
Ensembl gene ID
ENSG00000120729
image
Protein MYOT PDB 2KDG.png
1,200 × 1,000; 133 KB
0 references
found in taxon
Homo sapiens
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
encodes
Myotilin
1 reference
stated in
UniProt
retrieved
6 July 2017
UniProt protein ID
Q9UBF9
genetic association
spheroid body myopathy
1 reference
stated in
UniProt
UniProt protein ID
Q9UBF9
retrieved
13 August 2019
chromosome
human chromosome 5
genomic assembly
genome assembly GRCh38
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
strand orientation
forward strand
genomic assembly
genome assembly GRCh38
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
genomic start
137203480
chromosome
human chromosome 5
genomic assembly
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
137867858
chromosome
human chromosome 5
genomic assembly
genome assembly GRCh38
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
genomic end
137887851
chromosome
human chromosome 5
genomic assembly
genome assembly GRCh38
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
137223540
chromosome
human chromosome 5
genomic assembly
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
cytogenetic location
5q31.2
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
9499
HomoloGene ID
4942
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
9499
Gene Atlas image
PBB GE MYOT 219728 at fs.png
732 × 530; 11 KB
0 references
ortholog
Myot
found in taxon
house mouse
1 reference
stated in
HomoloGene build68
HomoloGene ID
4942
LOC100909761
found in taxon
brown rat
1 reference
stated in
HomoloGene build68
HomoloGene ID
4942
Myot
found in taxon
brown rat
1 reference
stated in
HomoloGene build68
HomoloGene ID
4942
LOC100912306
found in taxon
brown rat
1 reference
stated in
HomoloGene build68
HomoloGene ID
4942
myot
found in taxon
Danio rerio
1 reference
stated in
HomoloGene build68
HomoloGene ID
4942
expressed in
gastrocnemius muscle
series ordinal
1
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000120729
vastus lateralis muscle
series ordinal
2
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000120729
body of tongue
series ordinal
3
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000120729
Achilles tendon
series ordinal
4
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000120729
deltoid muscle
series ordinal
5
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000120729
tibialis anterior muscle
series ordinal
6
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000120729
tibial nerve
series ordinal
7
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000120729
left ventricle
series ordinal
8
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000120729
putamen
series ordinal
9
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000120729
gastric mucosa
series ordinal
10
1 reference
stated in
Bgee
retrieved
20 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000120729
exact match
http://identifiers.org/ncbigene/9499
1 reference
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
Identifiers
RefSeq RNA ID
NM_006790
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
9499
NM_001135940
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
9499
NM_001300911
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
9499
XM_017010061
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
9499
Entrez Gene ID
9499
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
9499
Ensembl gene ID
ENSG00000120729
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
Ensembl transcript ID
ENST00000515645
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
ENST00000239926
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
ENST00000421631
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
ENST00000503748
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
ENST00000508938
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
ENST00000509812
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
ENST00000511254
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
ENST00000511625
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000120729
HGNC gene symbol
MYOT
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
9499
HGNC ID
12399
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
9499
OMIM ID
604103
1 reference
stated in
Online Mendelian Inheritance in Man
retrieved
19 August 2019
UMLS CUI
C1826332
1 reference
based on heuristic
inferred by common HGNC mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
15 June 2023
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