TP73 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TP73 (HGNC:12003) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tumor protein p73
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- P73
- %HI
- 25.95(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.28(Read more about gnomAD pLI score)
- LOEUF
- 0.58(Read more about gnomAD LOEUF score)
- Cytoband
- 1p36.32
- Genomic Coordinates
-
GRCh37/hg19: chr1:3569080-3652765 NCBI Ensembl UCSC GRCh38/hg38: chr1:3652516-3736201 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005427.4 ENST00000378295.9 (Read more about MANE Select)
- Function
- Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and transactivating p73 isoforms. May be a tumor suppressor protein. Is an activator of FOXJ1 expression (By similarity). It is an essential factor for the positive regulation of lung ciliated cell differentiation (PubMed:34077761). {ECO:0000250|UniProtKB:Q9JJP2, ECO:0000269|PubMed:10203277, ECO:000026... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-9182
ClinGen Curation ID:
CCID:008029
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/06/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)