MAP3K7 mitogen-activated protein kinase kinase kinase 7

Gene info

Synonyms

MEKK7

Previous symbol

TAK1

External ID

HGNC: 6859
Entrez Gene: 6885
Ensembl: ENSG00000135341
UCSC: uc003pnz.3
OMIM: 602614
UniProtKB: O43318

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Patent foramen ovale
  • Mitral valve dysplasia
  • Tricuspid valve dysplasia

Extra Cardiac Phenotype

Facial dysmorphism, Sensorineural hearing loss, Gastrointestinal dysmotility, Kyphoscoliosis, Joint hypermobility

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Homozygous null mice have CHD

MGI ID

Variant info

Clinvar

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

Download annotation file for MAP3K7: BED file

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Selected References

  1. Sousa, S. B., Baujat, G., Abadie, V., Bonnet, D., Sidi, D., Munnich, A., … Cormier-Daire, V. (2010). Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)-A distinct syndrome? American Journal of Medical Genetics Part A, 152A(3), 539–546. DOI:10.1002/ajmg.a.33277
  2. Morlino, S., Castori, M., Dordoni, C., Cinquina, V., Santoro, G., Grammatico, P., … Ritelli, M. (2018). A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder. European Journal of Human Genetics, 26(4), 582–586. DOI:10.1038/s41431-017-0079-x PMID:29467388
  3. Micale, L., Morlino, S., Biagini, T., Carbone, A., Fusco, C., Ritelli, M., … Castori, M. (2020). Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1866(6), 165742. DOI:10.1016/j.bbadis.2020.165742