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Aliases for CARD14 Gene

Aliases for CARD14 Gene

  • Caspase Recruitment Domain Family Member 14 2 3 5
  • CARD-Containing MAGUK Protein 2 3 4
  • CARMA2 3 4
  • Caspase Recruitment Domain-Containing Protein 14 3
  • Caspase Recruitment Domain Family, Member 14 2
  • Bcl10-Interacting Maguk Protein 2 3
  • Psoriasis Susceptibility 2 2
  • Carma 2 4
  • PSORS2 3
  • BIMP2 3
  • 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. GO annotations related to this gene include CARD domain binding. An important paralog of this gene is CARD11.

UniProtKB/Swiss-Prot for CARD14 Gene

  • Plays a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10.

Gene Wiki entry for CARD14 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CARD14 Gene

Genomics for CARD14 Gene

Regulatory Elements for CARD14 Gene

Enhancers for CARD14 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F080269 0.2 ENCODE 12.4 +100.8 100777 1.7 PKNOX1 DDX20 TEAD4 POLR2A GATA2 NFYB FOS MAFK SP3 ZNF280D CARD14 RNF213 ENSG00000262979
GH17F080218 1 ENCODE 12.3 +50.6 50550 4.5 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A GLI4 ZNF48 ZNF2 ZNF121 LOC105371920 SLC26A11 CARD14 SGSH
GH17F080212 0.8 Ensembl 12.1 +43.2 43181 1.3 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SGSH CARD14 EIF4A3 GC17M080212 SLC26A11
GH17F080092 0.9 Ensembl 11.8 -77.3 -77288 1.4 ZNF121 ZNF362 ZBTB40 GAA EIF4A3 CARD14 LOC105371920 MIR1268B GC17P080040
GH17F080109 0.2 ENCODE 11.7 -60.2 -60186 0.2 ZNF157 ATF2 GAA EIF4A3 CARD14 CCDC40 TBC1D16 GC17M080103 GC17P080128
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CARD14 on UCSC Golden Path with GeneCards custom track

Genomic Location for CARD14 Gene

Chromosome:
17
Start:
80,169,992 bp from pter
End:
80,209,331 bp from pter
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 with BCL10 by CARD-CARD interaction. Interacts with TRAF2, TRAF3 and TRAF6.

    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

Suggested Antigen Peptide Sequences for CARD14 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BXL6

UniProtKB/Swiss-Prot:

CAR14_HUMAN :
  • Contains 1 CARD domain.
Domain:
  • Contains 1 CARD domain.
  • Contains 1 guanylate kinase-like domain.
  • Contains 1 PDZ (DHR) domain.
genes like me logo Genes that share domains with CARD14: view

Function for CARD14 Gene

Molecular function for CARD14 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10.

Gene Ontology (GO) - Molecular Function for CARD14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050700 CARD domain binding 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 Model Products

  • Taconic Biosciences Mouse Models for CARD14

miRNA for CARD14 Gene

miRTarBase miRNAs that target CARD14

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for CARD14 Gene COMPARTMENTS Subcellular localization image for CARD14 gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CARD14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 11278692
GO:0005886 plasma membrane NAS 11278692
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

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

Transcripts for CARD14 Gene

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
CARD14

Expression for CARD14 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for CARD14 Gene



Protein tissue co-expression partners for CARD14 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CARD14 Gene:

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. Isoform 2 is detected in leukocytes and fetal brain.
genes like me logo Genes that share expression patterns with CARD14: view

Primer Products

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 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia CARD14 34 35
  • 83.85 (n)
cow
(Bos Taurus)
Mammalia CARD14 34 35
  • 83.55 (n)
mouse
(Mus musculus)
Mammalia Card14 34 16 35
  • 79.99 (n)
rat
(Rattus norvegicus)
Mammalia Card14 34
  • 79.94 (n)
oppossum
(Monodelphis domestica)
Mammalia CARD14 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CARD14 35
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CARD14 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia card14 34
  • 54.86 (n)
zebrafish
(Danio rerio)
Actinopterygii card14 34
  • 47.66 (n)
CARD14 35
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
OneToMany
Species where no ortholog for CARD14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CARD14 Gene

Paralogs for CARD14 Gene

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

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

Variants for CARD14 Gene

Sequence variations from dbSNP and Humsavar for CARD14 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs281875212 Psoriasis 2 (PSORS2) [MIM:602723], Pathogenic 80,183,987(+) ACCAG(A/C/G)AAAAG nc-transcript-variant, reference, missense
rs281875213 Psoriasis 2 (PSORS2) [MIM:602723], Pathogenic 80,183,988(+) CCAGG(A/G)AAAGG nc-transcript-variant, reference, missense
rs281875214 Psoriasis 2 (PSORS2) [MIM:602723], Pathogenic 80,183,976(+) GGAGG(A/C)GCTGA nc-transcript-variant, reference, missense
rs281875215 Psoriasis 2 (PSORS2) [MIM:602723], Pathogenic 80,182,790(+) TTAGC(A/G)GTGAG nc-transcript-variant, reference, missense
rs387907240 Pityriasis rubra pilaris (PRP) [MIM:173200], Pathogenic 80,184,030(+) GCAGC(C/T)GCAGG nc-transcript-variant, reference, missense

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)

Relevant External Links for CARD14 Gene

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

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

Disorders for CARD14 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CARD14 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pityriasis rubra pilaris
  • devergie's disease
psoriasis 2
  • polycythemia vera
psoriasis susceptibility 2
  • psors2
psoriasis
pustular psoriasis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAR14_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CARD14

Genetic Association Database (GAD)
CARD14
Human Genome Epidemiology (HuGE) Navigator
CARD14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARD14
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 C.T. … Bowcock A.M. (Am. J. Hum. Genet. 2012) 2 3 4 64
  2. CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with Bcl10 and activate NF-kappaB. (PMID: 11278692) Bertin J. … Alnemri E.S. (J. Biol. Chem. 2001) 2 3 4 64
  3. Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation. (PMID: 11356195) Gaide O. … Tschopp J. (FEBS Lett. 2001) 2 3 4 64
  4. Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis. (PMID: 22521419) Jordan C.T. … Bowcock A.M. (Am. J. Hum. Genet. 2012) 3 4 64
  5. Familial pityriasis rubra pilaris is caused by mutations in CARD14. (PMID: 22703878) Fuchs-Telem D. … Sprecher E. (Am. J. Hum. Genet. 2012) 3 4 64

Products for CARD14 Gene

Sources for CARD14 Gene

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