MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4

Gene info

Synonyms

HGK, NIK, FLH21957

Previous symbol

None

External ID

HGNC: 6866
Entrez Gene: 9448
Ensembl: ENSG00000071054
UCSC: uc061mks.1
OMIM: 604666
UniProtKB: O95819

Disease info

Disease

None

CHD Phenotype

  • Pulmonary artery stenosis
  • Atrial septal defect
  • Ventricular septal defect
  • Patent foramen ovale
  • Hypoplastic left heart syndrome
  • Patent ductus arteriosus
  • Aortic atresia

Extra Cardiac Phenotype

Developmental delay, intellectual disability, attention deficit disorder, short stature, craniofacial anomalies

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for disruptions in this gene die as embryos around day E9.5-10.5

MGI ID

1349394

Variant info

Clinvar

MAP4K4

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 MAP4K4.

Selected References

  1. Patterson, V., Ullah, F., Bryant, L., Li, D., Griffin, J. N., Sidhu, A., Saliganan, S., Blaile, M., Saenz, M. S., Smith, R., Ellingwood, S., Grange, D. K., Hu, X., Mireguli, M., Luo, Y., Shen, Y., Mulhern, M., Zackai, E., Ritter, A., … Bhoj, E. (2023). Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science Advances, 9(17). https://doi.org/10.1126/sciadv.ade0631 DOI:10.1126/sciadv.ade0631 PMID:37126546