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Gene id 1762
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol DMWD   Gene   UCSC   Ensembl
Aliases D19S593E, DMR-N9, DMRN9, gene59
Gene name DM1 locus, WD repeat containing
Alternate names dystrophia myotonica WD repeat-containing protein, dystrophia myotonica, WD repeat containing, dystrophia myotonica-containing WD repeat motif protein, protein 59,
Gene location 19q13.32 (45792844: 45782946)     Exons: 5     NC_000019.10
OMIM 300479

Protein Summary

Protein general information Q09019  

Name: Dystrophia myotonica WD repeat containing protein (Dystrophia myotonica containing WD repeat motif protein) (Protein 59) (Protein DMR N9)

Length: 674  Mass: 70438

Sequence MAAGGAEGGSGPGAAMGDCAEIKSQFRTREGFYKLLPGDGAARRSGPASAQTPVPPQPPQPPPGPASASGPGAAG
PASSPPPAGPGPGPALPAVRLSLVRLGEPDSAGAGEPPATPAGLGSGGDRVCFNLGRELYFYPGCCRRGSQRSID
LNKPIDKRIYKGTQPTCHDFNQFTAATETISLLVGFSAGQVQYLDLIKKDTSKLFNEERLIDKTKVTYLKWLPES
ESLFLASHASGHLYLYNVSHPCASAPPQYSLLKQGEGFSVYAAKSKAPRNPLAKWAVGEGPLNEFAFSPDGRHLA
CVSQDGCLRVFHFDSMLLRGLMKSYFGGLLCVCWSPDGRYVVTGGEDDLVTVWSFTEGRVVARGHGHKSWVNAVA
FDPYTTRAEEAATAAGADGERSGEEEEEEPEAAGTGSAGGAPLSPLPKAGSITYRFGSAGQDTQFCLWDLTEDVL
YPHPPLARTRTLPGTPGTTPPAASSSRGGEPGPGPLPRSLSRSNSLPHPAGGGKAGGPGVAAEPGTPFSIGRFAT
LTLQERRDRGAEKEHKRYHSLGNISRGGSGGSGSGGEKPSGPVPRSRLDPAKVLGTALCPRIHEVPLLEPLVCKK
IAQERLTVLLFLEDCIITACQEGLICTWARPGKAFTDEETEAQTGEGSWPRSPSKSVVEGISSQPGNSPSGTVV
Structural information
Interpro:  IPR015943  IPR001680  IPR017986  IPR036322  
Prosite:   PS50082 PS50294
MINT:  
STRING:   ENSP00000270223
Other Databases GeneCards:  DMWD  Malacards:  DMWD

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0042995 cell projection
IEA cellular component
GO:0005634 nucleus
IEA cellular component
GO:0030425 dendrite
IEA cellular component
GO:0005634 nucleus
IEA cellular component
GO:0043204 perikaryon
IEA cellular component
GO:0005575 cellular_component
ND cellular component
GO:0003674 molecular_function
ND molecular function
Associated diseases References
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract