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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)