ATP2C2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ATP2C2 (HGNC:29103) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ATPase secretory pathway Ca2+ transporting 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA0703, SPCA2
%HI
70.21(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.71(Read more about gnomAD LOEUF score)
Cytoband
16q24.1
Genomic Coordinates
GRCh37/hg19: chr16:84402144-84497793 NCBI Ensembl UCSC
GRCh38/hg38: chr16:84368538-84464187 NCBI Ensembl UCSC
MANE Select Transcript
NM_014861.4 ENST00000262429.9 (Read more about MANE Select)
Function
ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway (PubMed:15831496, PubMed:16332677, PubMed:30923126, PubMed:15677451). Within a catalytic cycle, acquires Ca(2+) or Mn(2+) ions on the cytoplasmic side of the membrane and delivers them to the lumenal side. The transfer of ions across the membrane is coupled to ATP hydrolysis and is associated with a transient... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33026
ClinGen Curation ID:
CCID:006712
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/17/2018

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 25296922
    Smith et al. (2015): Case report of 10 year old boy with specific language impairment. Patient has a 159Kb deletion that includes ATP2C2 as well as a second gene, TLDC1. The deletion was found to be de novo. ATP2C2 is a candidate gene for specific language impairment based on GWAS studies [PMID: 19646677]. The authors propose a neurobiological role of the ATP2C2 gene in specific language impairment through effects on the development of phonologic short-term memory.
HI Evidence Comments:
ATP2C2 is a candidate gene for specific language impairment and dyslexia based primarily on GWAS studies. Evidence to support haploinsufficiency of this gene alone is currently lacking.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)