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
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.
- 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