Wd Repeat-Containing Protein 62

Alternative Names

  • WDR62
  • Chromosome 19 Open Reading Frame 14
  • C19orf14
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OMIM Number

613583

NCBI Gene ID

284403

Uniprot ID

O43379

Length

56,265 bases

No. of Exons

35

No. of isoforms

4

Protein Name

WD repeat-containing protein 62

Molecular Mass

165954 Da

Amino Acid Count

1518

Genomic Location

chr19:36,054,880-36,111,144

Gene Map Locus
19q13.12

Description

The WDR62 gene codes for the WD Repeat Containing Protein 62. This protein is understood to play a role in neuronal proliferation and migration as well as in mother-centriole-dependent centriole duplication. The WDR62 gene has been shown to play a role in cerebral cortical development. Mutations in this gene have been associated with microcephaly, cortical malformations, and mental retardation.

Molecular Genetics

The WDR62 gene is located on the long arm of chromosome 19, where it spans a length of just over 50 Kb.  It contains 32 coding exons and has seven transcript variants.  The protein itself contains 1523 amino acid residues.  WDR62 is a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway, and it contains a WD40 domain, a MKK7 binding domain, and JNK docking domain.  During the early stages of the cell cycle, this protein co-localizes to the mitotic spindles.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001083961.2:c.193G>ASaudi ArabiaNC_000019.10:g.36058795G>APathogenicPathogenicMicrocephaly 2, Primary, Autosomal Recessive, with or without Cortical MalformationsNG_028101.1:g.8915G>A; NM_001083961.2:c.193G>A; NP_001077430.1:p.Val65Met38790708431040
NM_001083961.2:c.3012_3034dupSaudi ArabiaNC_000019.10:g.36101704_36101726dupPathogenicPathogenicMicrocephaly 2, Primary, Autosomal Recessive, with or without Cortical MalformationsNG_028101.1:g.51824_51846dup; NM_001083961.2:c.3012_3034dup; NP_001077430.1:p.Pro1012fs1555723585437292

Other Reports

Sudan

Bastaki et al. (2015) reported a consanguineous Sudanese family with MCPH2 with a novel mutation in the WDR62 gene.  The two affected siblings in this family were both found by whole exome sequencing to carry a homozygous variant, c.390G>A, in exon 4 of the WDR62 gene.  Although the substitution was found to be synonymous (p.Glu130Glu), it affected the last nucleotide in exon 4, suggesting aberrant splicing.  Both parents were phenotypically normal and were found to be heterozygous for the variant. 

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