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
Disease
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
MGI: Homozygous knockout 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.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for MAP3K7: BED file
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Selected References
- Sousa, S. B., Baujat, G., Abadie, V., Bonnet, D., Sidi, D., Munnich, A., Krakow, D., & 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. https://doi.org/10.1002/ajmg.a.33277 DOI:10.1002/ajmg.a.33277 PMID:20186786
- Morlino, S., Castori, M., Dordoni, C., Cinquina, V., Santoro, G., Grammatico, P., Venturini, M., Colombi, M., & 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. https://doi.org/10.1038/s41431-017-0079-x DOI:10.1038/s41431-017-0079-x PMID:29467388
- Micale, L., Morlino, S., Biagini, T., Carbone, A., Fusco, C., Ritelli, M., Giambra, V., Zoppi, N., Nardella, G., Notarangelo, A., Schirizzi, A., Mazzoccoli, G., Grammatico, P., Wade, E. M., Mazza, T., Colombi, 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. https://doi.org/10.1016/j.bbadis.2020.165742 DOI:10.1016/j.bbadis.2020.165742 PMID:32105826