• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ATP10A (HGNC:13542) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ATPase phospholipid transporting 10A (putative)
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ATP10C
Alias symbols
ATPVA, ATPVC, KIAA0566
%HI
68.57(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.43(Read more about gnomAD LOEUF score)
Cytoband
15q12
Genomic Coordinates
GRCh37/hg19: chr15:25923859-26108349 NCBI Ensembl UCSC
GRCh38/hg38: chr15:25672237-25865088 NCBI Ensembl UCSC
MANE Select Transcript
NM_024490.4 ENST00000555815.7 (Read more about MANE Select)
Function
Catalytic component of P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of phosphatidylcholine (PC) from the outer to the inner leaflet of the plasma membrane (PubMed:25947375, PubMed:29599178, PubMed:30530492). Initiates inward plasma membrane bending and recruitment of Bin/amphiphysin/Rvs (BAR) domain-containing proteins involved in membrane tubulation and cell trafficking (PubMed:29599178). Facilitates ITGB1/beta1 integrin endocytosis, delaying cell a... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7934
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
04/25/2012

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)
TS Evidence Comments:
PMID:18925931 Cai et al. (2008) identified a de novo 1 Mb duplication including ATP10A and GABRB3 using MLPA probes in a proband with autism. This gain was not detected in an affected sibling.

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)