This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specif... See more...

Aliases for CARD14 Gene

Aliases for CARD14 Gene

  • Caspase Recruitment Domain Family Member 14 2 3 5
  • CARMA2 2 3 4
  • Caspase Recruitment Domain-Containing Protein 14 3 4
  • CARD-Containing MAGUK Protein 2 3 4
  • BIMP2 2 3
  • Caspase Recruitment Domain Family, Member 14 2
  • Bcl10-Interacting Maguk Protein 2 3
  • Psoriasis Susceptibility 2 2
  • Carma 2 4
  • PSORS2 3
  • CARD14 5
  • PSS1 3
  • PRP 3

External Ids for CARD14 Gene

Previous HGNC Symbols for CARD14 Gene

  • PSORS2

Previous GeneCards Identifiers for CARD14 Gene

  • GC17M077760
  • GC17P081455
  • GC17P078714
  • GC17P078852
  • GC17P078843
  • GC17P075766
  • GC17P078152
  • GC17P073593

Summaries for CARD14 Gene

Entrez Gene Summary for CARD14 Gene

  • This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

GeneCards Summary for CARD14 Gene

CARD14 (Caspase Recruitment Domain Family Member 14) is a Protein Coding gene. Diseases associated with CARD14 include Pityriasis Rubra Pilaris and Psoriasis 2. Among its related pathways are TCR Signaling (Qiagen) and NF-kappa B signaling pathway. Gene Ontology (GO) annotations related to this gene include CARD domain binding. An important paralog of this gene is CARD11.

UniProtKB/Swiss-Prot Summary for CARD14 Gene

  • 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 cells against apoptosis.
  • [Isoform 3]: Not able to activate the inflammatory transcription factor NF-kappa-B and may function as a dominant negative regulator (PubMed:21302310, PubMed:26358359).

Gene Wiki entry for CARD14 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CARD14 Gene

Genomics for CARD14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CARD14 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J080169 Promoter/Enhancer 1.1 Ensembl ENCODE 250.7 0.0 -2 1.2 IKZF1 ZIC2 ZNF217 MBD2 ELF1 CTBP1 ZNF623 TAL1 SIN3A SMARCE1 CARD14 HSALNG0119171 lnc-SLC26A11-2 piR-44610-004 GAA piR-50308-281 EIF4A3
GH17J080177 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 250.4 +8.3 8339 0.7 USF2 ATF4 CEBPB NR2F1 CEBPG CARD14 GAA lnc-SLC26A11-2 HSALNG0119172 piR-44610-004 SLC26A11
GH17J080168 Enhancer 0.3 Ensembl 250.7 -1.4 -1392 0.4 CREM MTA1 CARD14 HSALNG0119171 lnc-SLC26A11-2 EIF4A3 GAA piR-50308-281
GH17J080252 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 +89.7 89707 14.2 BCLAF1 SP1 ZNF207 ZNF600 MYC NCOR1 IKZF1 SSRP1 JUND ZNF592 RNF213 piR-38716-064 lnc-SGSH-3 EIF4A3 CEP131 TEPSIN ENSG00000262580 CARD14 ENSG00000260005 RPL12P37
GH17J080218 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.3 +50.5 50549 4.5 MYC NCOR1 ZNF600 ZNF10 NFIC ZIC2 ZBTB10 MXD4 BCL11A HES1 SLC26A11 SGSH lnc-EIF4A3-2 ENSG00000262580 CARD14 CBX8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CARD14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CARD14

Top Transcription factor binding sites by QIAGEN in the CARD14 gene promoter:
  • GATA-1
  • Lmo2
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for CARD14 Gene

Latest Assembly
chr17:80,169,992-80,209,331
(GRCh38/hg38)
Size:
39,340 bases
Orientation:
Plus strand

Previous Assembly
chr17:78,143,829-78,183,130
(GRCh37/hg19 by Entrez Gene)
Size:
39,302 bases
Orientation:
Plus strand

chr17:78,143,791-78,183,130
(GRCh37/hg19 by Ensembl)
Size:
39,340 bases
Orientation:
Plus strand

Genomic View for CARD14 Gene

Genes around CARD14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARD14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARD14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARD14 Gene

Proteins for CARD14 Gene

  • Protein details for CARD14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXL6-CAR14_HUMAN
    Recommended name:
    Caspase recruitment domain-containing protein 14
    Protein Accession:
    Q9BXL6
    Secondary Accessions:
    • B8QQJ3
    • Q9BVB5

    Protein attributes for CARD14 Gene

    Size:
    1004 amino acids
    Molecular mass:
    113270 Da
    Quaternary structure:
    • Interacts (via CARD domain) with BCL10 (via CARD domain) (PubMed:21302310). Forms a complex with MALT1 and BCL10; resulting in the formation of a CBM (CARD14-BLC10-MALT1) complex (PubMed:27113748, PubMed:27071417). Interacts with TRAF2, TRAF3 and TRAF6 (PubMed:21302310).

    Alternative splice isoforms for CARD14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CARD14 Gene

Post-translational modifications for CARD14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CARD14 Gene

Domains & Families for CARD14 Gene

Gene Families for CARD14 Gene

Protein Domains for CARD14 Gene

InterPro:
Blocks:
  • CARD interaction domain
  • PDZ/DHR/GLGF domain

Suggested Antigen Peptide Sequences for CARD14 Gene

GenScript: Design optimal peptide antigens:
  • CARD14 isoform 3 (B8QQJ3_HUMAN)
  • CARD-containing MAGUK protein 2 (CAR14_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BXL6

UniProtKB/Swiss-Prot:

CAR14_HUMAN :
  • A linker region between the coiled-coil and PDZ region holds the protein in an inactive state (PubMed:27071417).
Domain:
  • A linker region between the coiled-coil and PDZ region holds the protein in an inactive state (PubMed:27071417).
genes like me logo Genes that share domains with CARD14: view

Function for CARD14 Gene

Molecular function for CARD14 Gene

UniProtKB/Swiss-Prot 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 cells against apoptosis.
UniProtKB/Swiss-Prot Function:
[Isoform 3]: Not able to activate the inflammatory transcription factor NF-kappa-B and may function as a dominant negative regulator (PubMed:21302310, PubMed:26358359).

Phenotypes From GWAS Catalog for CARD14 Gene

Gene Ontology (GO) - Molecular Function for CARD14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0050700 CARD domain binding IBA,IPI 11278692
genes like me logo Genes that share ontologies with CARD14: view
genes like me logo Genes that share phenotypes with CARD14: view

Human Phenotype Ontology for CARD14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CARD14 Gene

MGI Knock Outs for CARD14:

Animal Models for research

  • Taconic Biosciences Mouse Models for CARD14

miRNA for CARD14 Gene

miRTarBase miRNAs that target CARD14

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARD14

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CARD14 Gene

Localization for CARD14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARD14 Gene

[Isoform 1]: Cytoplasm.
[Isoform 2]: Cytoplasm.
[Isoform 3]: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CARD14 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3
extracellular 2
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Aggresome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CARD14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 11278692
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane NAS 11278692
GO:0016235 aggresome IDA --
genes like me logo Genes that share ontologies with CARD14: view

Pathways & Interactions for CARD14 Gene

genes like me logo Genes that share pathways with CARD14: view

Pathways by source for CARD14 Gene

1 KEGG pathway for CARD14 Gene
2 Qiagen pathways for CARD14 Gene
  • NF-KappaB Family Pathway
  • PKC-Theta Pathway

Gene Ontology (GO) - Biological Process for CARD14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IDA 11278692
GO:0006915 apoptotic process IEA --
GO:0007250 activation of NF-kappaB-inducing kinase activity NAS 11278692
GO:0033209 tumor necrosis factor-mediated signaling pathway IMP 21302310
GO:0042981 regulation of apoptotic process IEA --
genes like me logo Genes that share ontologies with CARD14: view

No data available for SIGNOR curated interactions for CARD14 Gene

Drugs & Compounds for CARD14 Gene

No Compound Related Data Available

Transcripts for CARD14 Gene

mRNA/cDNA for CARD14 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARD14

Alternative Splicing Database (ASD) splice patterns (SP) for CARD14 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5:
SP6: -
SP7:
SP8:
SP9: - -

ExUns: 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b
SP1: - - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CARD14 Gene

GeneLoc Exon Structure for
CARD14

Expression for CARD14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CARD14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CARD14 Gene

This gene is overexpressed in Esophagus - Mucosa (x7.1), Skin - Sun Exposed (Lower leg) (x7.1), and Skin - Not Sun Exposed (Suprapubic) (x7.0).

Protein differential expression in normal tissues from HIPED for CARD14 Gene

This gene is overexpressed in Plasma (61.9) and Peripheral blood mononuclear cells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CARD14 Gene



Protein tissue co-expression partners for CARD14 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CARD14

SOURCE GeneReport for Unigene cluster for CARD14 Gene:

Hs.675480

mRNA Expression by UniProt/SwissProt for CARD14 Gene:

Q9BXL6-CAR14_HUMAN
Tissue specificity: Isoform 1 is detected in placenta and epidermal keratinocytes (PubMed:22521418). Isoform 2 is detected in leukocytes and fetal brain (PubMed:22521418).

Evidence on tissue expression from TISSUES for CARD14 Gene

  • Intestine(4.3)
  • Kidney(2.7)
  • Nervous system(2.6)
  • Skin(2.5)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CARD14 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
Regions:
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with CARD14: view

Primer products for research

Orthologs for CARD14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CARD14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CARD14 29 30
  • 99.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CARD14 29 30
  • 83.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CARD14 29 30
  • 83.55 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Card14 29 16 30
  • 79.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Card14 29
  • 79.94 (n)
Oppossum
(Monodelphis domestica)
Mammalia CARD14 30
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CARD14 30
  • 59 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CARD14 30
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia card14 29
  • 54.86 (n)
Zebrafish
(Danio rerio)
Actinopterygii card14 29
  • 47.66 (n)
CARD14 30
  • 26 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 22 (a)
OneToMany
Species where no ortholog for CARD14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CARD14 Gene

ENSEMBL:
Gene Tree for CARD14 (if available)
TreeFam:
Gene Tree for CARD14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CARD14: view image
Alliance of Genome Resources:
Additional Orthologs for CARD14

Paralogs for CARD14 Gene

Paralogs for CARD14 Gene

(1) SIMAP similar genes for CARD14 Gene using alignment to 6 proteins:

  • CAR14_HUMAN
  • E7ETJ2_HUMAN
  • I3L1Z7_HUMAN
  • I3L3F1_HUMAN
  • I3L414_HUMAN
  • I3L4Q8_HUMAN
genes like me logo Genes that share paralogs with CARD14: view

Variants for CARD14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CARD14 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1000985 Uncertain Significance: Pityriasis rubra pilaris; Psoriasis susceptibility 2 80,208,254(+) G/C
NM_001366385.1(CARD14):c.2924G>C (p.Trp975Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1001503 Uncertain Significance: Pityriasis rubra pilaris; Psoriasis susceptibility 2 80,205,522(+) C/G
NM_001366385.1(CARD14):c.2570-9C>G
INTRON
1002660 Uncertain Significance: Pityriasis rubra pilaris; Psoriasis susceptibility 2 80,191,431(+) C/T
NM_001366385.1(CARD14):c.1198C>T (p.Arg400Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1003476 Uncertain Significance: Pityriasis rubra pilaris; Psoriasis susceptibility 2 80,208,268(+) G/A
NM_001366385.1(CARD14):c.2938G>A (p.Gly980Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1004740 Uncertain Significance: Pityriasis rubra pilaris; Psoriasis susceptibility 2 80,208,340(+) C/T
NM_001366385.1(CARD14):c.3010C>T (p.Arg1004Ter)
NONSENSE,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CARD14 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CARD14 Gene

Variant ID Type Subtype PubMed ID
esv1007097 CNV deletion 20482838
esv2716359 CNV deletion 23290073
esv2716360 CNV deletion 23290073
esv2716361 CNV deletion 23290073
esv2716364 CNV deletion 23290073
esv2758706 CNV gain 17122850
esv34722 CNV gain 17911159
esv3641364 CNV gain 21293372
esv3641365 CNV loss 21293372
esv3641366 CNV loss 21293372
esv3641367 CNV gain 21293372
esv3641368 CNV gain 21293372
nsv1066606 CNV gain 25217958
nsv1071413 CNV deletion 25765185
nsv457968 CNV loss 19166990
nsv469591 CNV loss 16826518
nsv576130 CNV loss 21841781
nsv576131 CNV loss 21841781
nsv833562 CNV loss 17160897

Variation tolerance for CARD14 Gene

Residual Variation Intolerance Score: 95.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.50; 88.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CARD14 Gene

Human Gene Mutation Database (HGMD)
CARD14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARD14
Leiden Open Variation Database (LOVD)
CARD14

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARD14 Gene

Disorders for CARD14 Gene

MalaCards: The human disease database

(27) MalaCards diseases for CARD14 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAR14_HUMAN
  • Psoriasis 2 (PSORS2) [MIM:602723]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. {ECO:0000269 PubMed:22521418, ECO:0000269 PubMed:22521419, ECO:0000269 PubMed:26358359, ECO:0000269 PubMed:27071417, ECO:0000269 PubMed:27113748}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Pityriasis rubra pilaris (PRP) [MIM:173200]: A rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema. {ECO:0000269 PubMed:22703878, ECO:0000269 PubMed:27760266}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CARD14

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CARD14: view

No data available for Genatlas for CARD14 Gene

Publications for CARD14 Gene

  1. PSORS2 is due to mutations in CARD14. (PMID: 22521418) Jordan CT … Bowcock AM (American journal of human genetics 2012) 2 3 4 72
  2. Familial pityriasis rubra pilaris is caused by mutations in CARD14. (PMID: 22703878) Fuchs-Telem D … Sprecher E (American journal of human genetics 2012) 3 4 72
  3. CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B. (PMID: 11278692) Bertin J … Alnemri ES (The Journal of biological chemistry 2001) 2 3 4
  4. Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation. (PMID: 11356195) Gaide O … Tschopp J (FEBS letters 2001) 2 3 4
  5. Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations. (PMID: 27760266) Takeichi T … Akiyama M (JAMA dermatology 2017) 3 4

Products for CARD14 Gene

Sources for CARD14 Gene