CARD14 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CARD14 (HGNC:16446) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- caspase recruitment domain family member 14
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PSORS2
- Alias symbols
- CARMA2, BIMP2
- %HI
- 75.93(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1(Read more about gnomAD LOEUF score)
- Cytoband
- 17q25.3
- Genomic Coordinates
-
GRCh37/hg19: chr17:78143829-78183130 NCBI Ensembl UCSC GRCh38/hg38: chr17:80170030-80209331 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001366385.1 ENST00000648509.2 (Read more about MANE Select)
- Function
- Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory gene expression. MALT1 is indispensable for CARD14-induced activation of NF-kappa-B and p38/JNK MAP kinases (PubMed:11278692, PubMed:21302310, PubMed:27113748, PubMed:27071417). May play a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-34623
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/01/2013
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Changes in CARD14 have been associated with pityriasis rubra pilaris (PRP). Although most cases of PRP are simplex cases, familial cases demonstrate autosomal-dominant inheritance with an early age of onset, incomplete penetrance, and variable expressivity. Changes in CARD14 have also been reported in psoriasis susceptibility 2 (PSORS2).
Fuchs-Telem et al. (2012) (PMID: 22703878) described three mutations ascertained in 4 unrelated families with PRP. Immunostaining for CARD14 on skin biopsies from mutation-positive, PRP-affected individuals revealed increased staining for CARD14 amongst affected individuals compared to wild-type. Similarly, Jordan et al. (2012) discuss missense mutations identified amongst individuals with PSORS2, and propose a mechanism by which "rare gain-of-function mutations in CARD14 initiate a process that includes inflammatory cell recruitment by keratinocytes. This perpetuates a vicious cycle of epidermal inflammation and regeneration, a cycle which is the hallmark of psoriasis." (PMID: 22521418).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)