• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CPA4 (HGNC:15740) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
carboxypeptidase A4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CPA3
%HI
54.59(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.4(Read more about gnomAD LOEUF score)
Cytoband
7q32.2
Genomic Coordinates
GRCh37/hg19: chr7:129933001-129964020 NCBI Ensembl UCSC
GRCh38/hg38: chr7:130293161-130324180 NCBI Ensembl UCSC
MANE Select Transcript
NM_016352.4 ENST00000222482.10 (Read more about MANE Select)
Function
Metalloprotease that could be involved in the histone hyperacetylation pathway (PubMed:10383164). Releases a C-terminal amino acid, with preference for -Phe, -Leu, -Ile, -Met, -Tyr and -Val (PubMed:20385563). {ECO:0000269|PubMed:10383164, ECO:0000269|PubMed:20385563}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19570
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
07/25/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Due to its imprinted status and location within a Russel-Silver syndrome putative locus, Kayashima et al., 2003 [PMID 12552318] investigated, but failed to identify any CPA4 mutations in 10 patients with RSS, arguing against a pathogenic role for this gene, at least in RSS. This gene was originally targeted since it is an imprinted gene.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)