• 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)