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DMWD dystrophia myotonica, WD repeat containing [ Homo sapiens (human) ]

Gene ID: 1762, updated on 26-May-2016
Official Symbol
DMWDprovided by HGNC
Official Full Name
dystrophia myotonica, WD repeat containingprovided by HGNC
Primary source
HGNC:HGNC:2936
See related
Ensembl:ENSG00000185800 MIM:609857; Vega:OTTHUMG00000169044
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DMRN9; DMR-N9; gene59; D19S593E
Orthologs
Location:
19q13.3
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (45783006..45792802, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46286205..46296060, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SIX homeobox 5 Neighboring gene dystrophia myotonica protein kinase Neighboring gene radial spoke head 6 homolog A Neighboring gene symplekin

Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: DMPK

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
Preferred Names
dystrophia myotonica WD repeat-containing protein
Names
dystrophia myotonica-containing WD repeat motif protein
protein 59

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004943.1NP_004934.1  dystrophia myotonica WD repeat-containing protein

    See identical proteins and their annotated locations for NP_004934.1

    Status: VALIDATED

    Source sequence(s)
    BC019266, BC041034, BG106514, BM922103, BQ189202, BX283745, CD106470, L19267
    Consensus CDS
    CCDS33054.1
    UniProtKB/Swiss-Prot
    Q09019
    UniProtKB/TrEMBL
    Q8WUW6
    Related
    ENSP00000270223, OTTHUMP00000239991, ENST00000270223, OTTHUMT00000402063
    Conserved Domains (2) summary
    COG2319
    Location:139379
    WD40; WD40 repeat [General function prediction only]
    cl02567
    Location:284378
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    45783006..45792802 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    46288774..46298570 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)