TPO |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TPO (HGNC:12015) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- thyroid peroxidase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- TPX
- %HI
- 76.12(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.97(Read more about gnomAD LOEUF score)
- Cytoband
- 2p25.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:1417235-1547445 NCBI Ensembl UCSC GRCh38/hg38: chr2:1374047-1543673 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001206744.2 ENST00000329066.9 (Read more about MANE Select)
- Function
- Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4). {ECO:0000250|UniProtKB:P09933}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-6022
ClinGen Curation ID:
CCID:008032
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- thyroid dyshormonogenesis 2A Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)