CPA4 |
- 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)