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TGFBR2 |
Gene Facts External Data Attribution
- HGNC Symbol
- TGFBR2 (HGNC:11773) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- transforming growth factor beta receptor 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MFS2
- Alias symbols
- TBRII, TBR-ii
- %HI
- 2.72(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.91(Read more about gnomAD pLI score)
- LOEUF
- 0.53(Read more about gnomAD LOEUF score)
- Cytoband
- 3p24.1
- Genomic Coordinates
-
GRCh37/hg19: chr3:30647994-30735634 NCBI Ensembl UCSC GRCh38/hg38: chr3:30606356-30694142 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003242.6 ENST00000295754.10 (Read more about MANE Select)
- Function
- Transmembrane serine/threonine kinase forming with the TGF- beta type I serine/threonine kinase receptor, TGFBR1, the non- promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and thus regulates a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, ex... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-5987
ClinGen Curation ID:
CCID:008000
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000003.11)
(NC_000003.12)
