CARD14
Caspase recruitment domain-containing protein 14
Also known as: BIMP2, CAR14_HUMAN, CARMA2, PSORS2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BXL6
- Gene
- CARD14
- Ensembl
- ENSG00000141527
- Chromosome
- 17
- Canonical length
- 1004 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
1004 residues, UniProt reviewed canonical sequence.
>Q9BXL6|CARD14
1 MGELCRRDSA LTALDEETLW EMMESHRHRI VRCICPSRLT PYLRQAKVLC QLDEEEVLHS
61 PRLTNSAMRA GHLLDLLKTR GKNGAIAFLE SLKFHNPDVY TLVTGLQPDV DFSNFSGLME
121 TSKLTECLAG AIGSLQEELN QEKGQKEVLL RRCQQLQEHL GLAETRAEGL HQLEADHSRM
181 KREVSAHFHE VLRLKDEMLS LSLHYSNALQ EKELAASRCR SLQEELYLLK QELQRANMVS
241 SCELELQEQS LRTASDQESG DEELNRLKEE NEKLRSLTFS LAEKDILEQS LDEARGSRQE
301 LVERIHSLRE RAVAAERQRE QYWEEKEQTL LQFQKSKMAC QLYREKVNAL QAQVCELQKE
361 RDQAYSARDS AQREISQSLV EKDSLRRQVF ELTDQVCELR TQLRQLQAEP PGVLKQEART
421 REPCPREKQR LVRMHAICPR DDSDCSLVSS TESQLLSDLS ATSSRELVDS FRSSSPAPPS
481 QQSLYKRVAE DFGEEPWSFS SCLEIPEGDP GALPGAKAGD PHLDYELLDT ADLPQLESSL
541 QPVSPGRLDV SESGVLMRRR PARRILSQVT MLAFQGDALL EQISVIGGNL TGIFIHRVTP
601 GSAADQMALR PGTQIVMVDY EASEPLFKAV LEDTTLEEAV GLLRRVDGFC CLSVKVNTDG
661 YKRLLQDLEA KVATSGDSFY IRVNLAMEGR AKGELQVHCN EVLHVTDTMF QGCGCWHAHR
721 VNSYTMKDTA AHGTIPNYSR AQQQLIALIQ DMTQQCTVTR KPSSGGPQKL VRIVSMDKAK
781 ASPLRLSFDR GQLDPSRMEG SSTCFWAESC LTLVPYTLVR PHRPARPRPV LLVPRAVGKI
841 LSEKLCLLQG FKKCLAEYLS QEEYEAWSQR GDIIQEGEVS GGRCWVTRHA VESLMEKNTH
901 ALLDVQLDSV CTLHRMDIFP IVIHVSVNEK MAKKLKKGLQ RLGTSEEQLL EAARQEEGDL
961 DRAPCLYSSL APDGWSDLDG LLSCVRQAIA DEQKKVVWTE QSPRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CARD14 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 9.9 nTPM
Expression across tissuesHPA
Tissue
- skin: 9.9 nTPM
- esophagus: 9 nTPM
- vagina: 4.9 nTPM
- cervix: 4 nTPM
- salivary gland: 2.3 nTPM
- prostate: 1.8 nTPM
Single-cell type
- esophageal apical cells: 92 nCPM
- esophageal suprabasal cells: 49 nCPM
- epicardial cells: 34 nCPM
- kupffer cells: 32 nCPM
- cardiomyocytes: 30 nCPM
- suprabasal keratinocytes: 28 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 1 nTPM
- basal ganglia: 0.9 nTPM
- cerebral cortex: 0.9 nTPM
- medulla oblongata: 0.9 nTPM
- pons: 0.9 nTPM
- white matter: 0.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CARD14.
Disease | AllUniProt
Conditions CARD14 is implicated in, by any mechanism.
- Psoriasis 2 (PSORS2) MIM:602723
- Pityriasis rubra pilaris (PRP) MIM:173200
Disease | GeneticClinVar
15 pathogenic / likely-pathogenic of 1,417 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Psoriasis 2
- Pityriasis rubra pilaris
- Papulosquamous eruptions
- PSORIASIS 2, PUSTULAR
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.61
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- activation of NF-kappaB-inducing kinase activity
- apoptotic process
- negative regulation of apoptotic process
- positive regulation of canonical NF-kappaB signal transduction
- positive regulation of NF-kappaB transcription factor activity
- positive regulation of protein phosphorylation
- regulation of immune response
- tumor necrosis factor-mediated signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CARD14 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CARD14 as an antibody target. Whether an autoantibody or antibody against CARD14 could matter depends on whether native CARD14 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CARD14 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CARD14 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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