Human Gene CARD14 (ENST00000648509.2_11) from GENCODE V47lift37
  Description: caspase recruitment domain family member 14, transcript variant 5 (from RefSeq NM_001366385.1)
Gencode Transcript: ENST00000648509.2_11
Gencode Gene: ENSG00000141527.19_19
Transcript (Including UTRs)
   Position: hg19 chr17:78,143,829-78,183,130 Size: 39,302 Total Exon Count: 24 Strand: +
Coding Region
   Position: hg19 chr17:78,155,238-78,182,144 Size: 26,907 Coding Exon Count: 20 

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Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:78,143,829-78,183,130)mRNA (may differ from genome)Protein (1004 aa)
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-  Comments and Description Text from UniProtKB
  ID: CAR14_HUMAN
DESCRIPTION: RecName: Full=Caspase recruitment domain-containing protein 14; AltName: Full=CARD-containing MAGUK protein 2; Short=Carma 2;
FUNCTION: Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10.
SUBUNIT: CARD14 and BCL10 bind to each other by CARD-CARD interaction.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Expressed in placenta. Also detected in HeLaS3 cell line, but not in the other cancer cell lines tested. Expressed in epidermal keratinocytes.
DISEASE: Defects in CARD14 are the cause of susceptibility to psoriasis type 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.
DISEASE: Defects in CARD14 are the cause of 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.
SIMILARITY: Contains 1 CARD domain.
SIMILARITY: Contains 1 guanylate kinase-like domain.
SIMILARITY: Contains 1 PDZ (DHR) domain.
CAUTION: Supposed to contain a SH3 domain which is not detected by PROSITE, Pfam or SMART.
SEQUENCE CAUTION: Sequence=AAH01326.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Caspase recruitment domain family, member 14 (CARD14); Note=Leiden Open Variation Database (LOVD); URL="http://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=CARD14";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CARD14
Diseases sorted by gene-association score: pityriasis rubra pilaris* (1700), psoriasis 2* (1329), psoriasis (33), pustular psoriasis (8), lymphocytic choriomeningitis (7), skin disease (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -242.30716-0.338 Picture PostScript Text
3' UTR -380.00986-0.385 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001315 - CARD
IPR011029 - DEATH-like
IPR008144 - Guanylate_kin
IPR008145 - Guanylate_kin/L-typ_Ca_channel
IPR001478 - PDZ

Pfam Domains:
PF00619 - Caspase recruitment domain

SCOP Domains:
47986 - DEATH domain
50044 - SH3-domain
50156 - PDZ domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
58104 - Methyl-accepting chemotaxis protein (MCP) signaling domain

ModBase Predicted Comparative 3D Structure on Q9BXL6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0050700 CARD domain binding

Biological Process:
GO:0001934 positive regulation of protein phosphorylation
GO:0006915 apoptotic process
GO:0007250 activation of NF-kappaB-inducing kinase activity
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0042981 regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0051092 positive regulation of NF-kappaB transcription factor activity

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AK091123 - Homo sapiens cDNA FLJ33804 fis, clone CTONG2000766, weakly similar to Rattus norvegicus caspase recruitment domain protein 9 mRNA.
AX746790 - Sequence 315 from Patent EP1308459.
AK002138 - Homo sapiens cDNA FLJ11276 fis, clone PLACE1009388.
JD413626 - Sequence 394650 from Patent EP1572962.
JD561047 - Sequence 542071 from Patent EP1572962.
JD059593 - Sequence 40617 from Patent EP1572962.
JD533816 - Sequence 514840 from Patent EP1572962.
JD321781 - Sequence 302805 from Patent EP1572962.
AF322642 - Homo sapiens caspase recruitment domain protein 14 mRNA, complete cds.
BC018142 - Homo sapiens caspase recruitment domain family, member 14, mRNA (cDNA clone MGC:9539 IMAGE:3847282), complete cds.
JD408728 - Sequence 389752 from Patent EP1572962.
JD483904 - Sequence 464928 from Patent EP1572962.
AY032927 - Homo sapiens CARD-containing MAGUK 2 protein (CARMA2) mRNA, complete cds.
CU676206 - Synthetic construct Homo sapiens gateway clone IMAGE:100020051 5' read CARD14 mRNA.
EU652409 - Homo sapiens CARD14 isoform 3 (CARD14) mRNA, complete cds.
AK296762 - Homo sapiens cDNA FLJ60652 complete cds, highly similar to Caspase recruitment domain-containing protein 14.
BC001326 - Homo sapiens caspase recruitment domain family, member 14, mRNA (cDNA clone IMAGE:3456973), complete cds.
JD226605 - Sequence 207629 from Patent EP1572962.
AK309299 - Homo sapiens cDNA, FLJ99340.
AK054723 - Homo sapiens cDNA FLJ30161 fis, clone BRACE2000545.
AK095416 - Homo sapiens cDNA FLJ38097 fis, clone D3OST1000066.
JD273261 - Sequence 254285 from Patent EP1572962.
JD317958 - Sequence 298982 from Patent EP1572962.
JD340295 - Sequence 321319 from Patent EP1572962.
JD202454 - Sequence 183478 from Patent EP1572962.
JD125934 - Sequence 106958 from Patent EP1572962.
JD209202 - Sequence 190226 from Patent EP1572962.
JD404173 - Sequence 385197 from Patent EP1572962.
JD502938 - Sequence 483962 from Patent EP1572962.
LQ451475 - Sequence 2 from Patent EP3065785.

-  Other Names for This Gene
  Alternate Gene Symbols: B8QQJ3, CAR14_HUMAN, CARMA2, ENST00000648509.1, NM_001366385, Q9BVB5, Q9BXL6, uc328oxt.1, uc328oxt.2
UCSC ID: ENST00000648509.2_11
RefSeq Accession: NM_001366385.1
Protein: Q9BXL6 (aka CAR14_HUMAN or CARE_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.