ATPAF2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ATPAF2 (HGNC:18802) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ATP synthase mitochondrial F1 complex assembly factor 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- Atp12p, ATP12, LP3663, MGC29736
- %HI
- 45.43(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.1(Read more about gnomAD LOEUF score)
- Cytoband
- 17p11.2
- Genomic Coordinates
-
GRCh37/hg19: chr17:17921335-17942482 NCBI Ensembl UCSC GRCh38/hg38: chr17:18015059-18039168 NCBI Ensembl UCSC - MANE Select Transcript
- NM_145691.4 ENST00000474627.8 (Read more about MANE Select)
- Function
- May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). {ECO:0000269|PubMed:11410595}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-23135
ClinGen Curation ID:
CCID:006720
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)