MAPKAPK5 mitogen-activated protein kinase-activated protein kinase 5

Gene info

Synonyms

PRAK

Previous symbol

None

External ID

HGNC: 6889
Entrez Gene: 8550
Ensembl: ENSG00000089022
UCSC: uc001tta.5
OMIM: 606723
UniProtKB: Q8IW41

Disease info

Disease

None

CHD Phenotype

  • Tetralogy of fallot
  • Atrial septal defect
  • Patent ductus arteriosus
  • Complex congenital heart defect including double inlet left ventricle and malposition of great arteries

Extra Cardiac Phenotype

Severe developmental delay, variable brain anomalies, dysmorphic facial features, distinctive type of synpolydactyly

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No CHD in knockout mice

MGI ID

1333110

Variant info

Clinvar

MAPKAPK5

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

No variant passing our criteria was found for MAPKAPK5.

Selected References

None