Basic Information

Symbol
WDR62
RNA class
mRNA
Alias
WD Repeat Domain 62 C19orf14 Microcephaly, Primary Autosomal Recessive 2 WD Repeat-Containing Protein 62 DKFZP434J046 FLJ33298 MCPH2 Chromosome 19 Open Reading Frame 14 EC 2.7.11.1 EC 2.7.7.38
Location (GRCh38)
19:36054649-36105108
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001083961.2
Sequence length
4727.0 nt
GC content
0.6038

Transcripts

ID Sequence Length GC content
NM_001083961.2 NCBI
GCUGUUCCAGUGGGUCGUGGCGGUGGCGGCAGCGGCGGUUAGGGGAUGU… 4727 nt 0.6038
NM_001411145.1 NCBI
GCUGUUCCAGUGGGUCGUGGCGGUGGCGGCAGCGGCGGUUAGGGGAUGU… 4712 nt 0.6040
NM_001411146.1 NCBI
GCUGUUCCAGUGGGUCGUGGCGGUGGCGGCAGCGGCGGUUAGGGGAUGU… 4478 nt 0.6009
NM_001411147.1 NCBI
GCUGUUCCAGUGGGUCGUGGCGGUGGCGGCAGCGGCGGUUAGGGGAUGU… 4376 nt 0.6060
NM_173636.5 NCBI
GCUGUUCCAGUGGGUCGUGGCGGUGGCGGCAGCGGCGGUUAGGGGAUGU… 4712 nt 0.6036
Summary

This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

Forensic Context

A study in humans characterized the platelet transcriptome in acute myocardial infarction patients and identified the WDR62 as having increased expression in non-ST-segment elevation myocardial infarction (NSTEMI) platelets compared to ST-segment elevation myocardial infarction (STEMI) platelets [Eicher et al. DOI:10.3109/09537104.2015.1083543].