GENE NAME | ENG |
CHROMOSOME | 9 |
ENSEMBL ID | ENSG00000106991 |
ENTREZ ID | 2022 |
UNIPROT ACCESSION NUMBER | P17813 |
GO MOLECULAR FUNCTION | protein binding; transforming growth factor beta binding; type II transforming growth factor beta receptor binding; transforming growth factor beta-activated receptor activity; glycosaminoglycan binding; identical protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
2 combinations linked to ENG | OLI838; OLI840 |
2 variants linked to ENG | ENG:c.920dupA, p.Asn307LysfsTer27; ENG:c.589C>T, p.Arg197Trp |
1 disease linked to ENG | Cerebral arteriovenous malformation |