CPA6
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CPA6 (HGNC:17245) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
carboxypeptidase A6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CPAH
%HI
29.99(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.34(Read more about gnomAD LOEUF score)
Cytoband
8q13.2
Genomic Coordinates
GRCh37/hg19: chr8:68334273-68658595 NCBI Ensembl UCSC
GRCh38/hg38: chr8:67422038-67746360 NCBI Ensembl UCSC
MANE Select Transcript
NM_020361.5 ENST00000297770.10 (Read more about MANE Select)
Function
May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II (PubMed:18178555). Releases a C-terminal amino acid, with preference for large hydrophobic C-terminal amino acids and shows only very weak activity toward small amino acids and histidine (PubMed:20855895). {ECO:0000269|PubMed:18178555, ECO:0000269|PubMed:20855895}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35574
ClinGen Curation ID:
CCID:006925
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:
09/04/2019

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
The CPA6 gene encodes a propeptidase protein that, when cleaved to its active form, functions to remove hydrophobic C-terminal amino acids from peptides in the extracellular matrix. Pathogenic variants in the CPA6 gene are primarily associated with temporal lobe epilepsy and febrile seizures. Lee et al. 2018 (PMID 29924869) discovered a pathogenic frameshift variant in exon 1 leading to a stop codon in exon 1 of 11. The patient had a diagnosis of juvenile myoclonic epilepsy. It is unclear whether this variant was inherited or de novo, but a haploinsufficient mechanism is likely given the location of the variant. Per the authors: "The CPA6 variant was present in the patient along with three other variants. Two were classified as VUS's and one was a likely pathogenic variant in CACN1AH. Review of the criteria used to score the CACN1AH variant as likely path, as well as our personal experience with this gene, led us to believe that the CPA6 variant is the causative variant for this patient." Since inheritance is unknown, the pLI score is 0, and the contributions of the other variants detected in this patient are unclear, we are giving this a haploinsufficiency score of 0.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
DGV shows one large duplication including CPA6 and ARFGEF1 (esv2752263).

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)