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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. DES, desmin
Sequence ID:NM_001927
RefSeqGene ID:NG_008043
Entrez Gene ID:1674
Ensembl ID:ENSG00000175084

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
CARDIOMYOPATHY, DILATED, 1I 
MYOPATHY, MYOFIBRILLAR, 1 
SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE 

Cytogenetic Location (from UniGene)

Cytogenetic Location:2q35Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:2: 220283184 - 220290727

NM_001927 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
1664220283098220283761
665725220284816220284876
726821220284972220285067
822983220285216220285377
9841109220285549220285674
11101330220286061220286281
13311374220288498220288541
13751457220290384220290466
14582246220290670220291458

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4905678Full LengthBC032116desmin
4131519IncompleteBC010072desmin

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_001918  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001927 NP_001918 P17661
Q53SB5
Filament
Filament_head

Related Sequences

 
mRNAGenPeptSwissProt
AF055081 AAC39938 P17661
AF055082 AAC39939 P17661
AF055083 AAC39940 P17661
U59167 AAC50680 P17661
AF137053 AAF15400 P17661
AF167579 AAG41217 Q9H319
BC032116 AAH32116 P17661
Q53SB5
AF486807 AAL93205 P17661
AF487828 AAL99078 P17661
AY083345 AAL99215 P17661
AY125465 AAM95238 P17661
AF521879 AAN15036 P17661
AF527578 AAN37810 P17661
DQ104335 AAZ17411 Q45VM8
DQ104336 AAZ17412 Q45VM7
DQ104337 AAZ17413 Q45VM6
DQ892282 ABM83208  
DQ895482 ABM86408  
EF617312 ABR08708 A5Z217
AK300654 BAG62342 B4DUI0
AJ132926 CAB62389 P17661

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens DES NP_001918 R.norvegicus Des 64362   NP_071976 98
M.musculus Des 13346 Gene Info NP_034173 98

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)