GDF2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GDF2 (HGNC:4217) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- growth differentiation factor 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- BMP-9, BMP9
- %HI
- 35.53(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.98(Read more about gnomAD LOEUF score)
- Cytoband
- 10q11.22
- Genomic Coordinates
-
GRCh37/hg19: chr10:48411774-48416908 NCBI Ensembl UCSC GRCh38/hg38: chr10:47322454-47327588 NCBI Ensembl UCSC - MANE Select Transcript
- NM_016204.4 ENST00000581492.3 (Read more about MANE Select)
- Function
- Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG. {ECO:0000269|PubMed:18309101, ECO:0000269|PubMed:21710321, ECO:0000269|PubMed:22799562, ECO:0000269|PubMed:23300529, ECO:0000269|PubMed:25237187}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-29455
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
10/13/2016
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Variants in GDF2 have been associated with hereditary hemorrhagic telangiectasia (HHT) type 5 (OMIM:615506). At the time of this review, four missense variants have been reported in individuals with phenotypic features overlapping those of HHT (PMID:23972370 and PMID: 27081547), including one that the authors deemed of "uncertain significance" (PMID: 27081547). Wooderchak-Donahue et al. performed functional analyses on three of the variants, determining that they "negatively affect protein processing and/or function," though it remains unclear whether or not this is through a loss of function mechanism (PMID:23972370). No loss-of-function variants or focal deletions of this gene have been reported at this time.
Of note, other HHT-causing genes in the TGFbeta-signaling pathway (ENG, ACVRL1, SMAD4) are known to cause disease through loss of function mechanisms.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000010.10)
(NC_000010.11)