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YWHAG |
Gene Facts External Data Attribution
- HGNC Symbol
- YWHAG (HGNC:12852) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- PPP1R170, 14-3-3GAMMA, 14-3-3γ
- %HI
- 11.66(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.2(Read more about gnomAD LOEUF score)
- Cytoband
- 7q11.23
- Genomic Coordinates
-
GRCh37/hg19: chr7:75956116-75988308 NCBI Ensembl UCSC GRCh38/hg38: chr7:76326799-76358991 NCBI Ensembl UCSC - MANE Select Transcript
- NM_012479.4 ENST00000307630.5 (Read more about MANE Select)
- Function
- Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways (PubMed:15696159, PubMed:16511572, PubMed:36732624). Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif (PubMed:15696159, PubMed:16511572, PubMed:36732624). Binding generally results in the modulation of the activity of the binding partner (PubMed:16511572). Promotes inactivation of WDR24 component of the GATOR2 complex by bindi... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-36541
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Related Links:
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)
