• Gene id: 79092

Gene Summary

• Gene Symbol: CARD14   Gene   UCSC   Ensembl
• Aliases: BIMP2, CARMA2, PRP, PSORS2, PSS1
• Gene name: caspase recruitment domain family member 14
• Alternate names: caspase recruitment domain-containing protein 14, CARD-containing MAGUK protein 2, bcl10-interacting maguk protein 2,
• Gene location: 17q25.3 (80169991: 80209330)     Exons: 26     NC_000017.11
• Gene summary(Entrez): 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 cellula
• OMIM: 114010

Protein Summary

• Protein general information: Q9BXL6  
  • Name: Caspase recruitment domain containing protein 14 (CARD containing MAGUK protein 2) (Carma 2)
  • Length: 1004  
  • Mass: 113270
  • Tissue specificity: Isoform 1 is detected in placenta and epidermal keratinocytes (PubMed
• Sequence:

  MGELCRRDSALTALDEETLWEMMESHRHRIVRCICPSRLTPYLRQAKVLCQLDEEEVLHSPRLTNSAMRAGHLLD
  LLKTRGKNGAIAFLESLKFHNPDVYTLVTGLQPDVDFSNFSGLMETSKLTECLAGAIGSLQEELNQEKGQKEVLL
  RRCQQLQEHLGLAETRAEGLHQLEADHSRMKREVSAHFHEVLRLKDEMLSLSLHYSNALQEKELAASRCRSLQEE
  LYLLKQELQRANMVSSCELELQEQSLRTASDQESGDEELNRLKEENEKLRSLTFSLAEKDILEQSLDEARGSRQE
  LVERIHSLRERAVAAERQREQYWEEKEQTLLQFQKSKMACQLYREKVNALQAQVCELQKERDQAYSARDSAQREI
  SQSLVEKDSLRRQVFELTDQVCELRTQLRQLQAEPPGVLKQEARTREPCPREKQRLVRMHAICPRDDSDCSLVSS
  TESQLLSDLSATSSRELVDSFRSSSPAPPSQQSLYKRVAEDFGEEPWSFSSCLEIPEGDPGALPGAKAGDPHLDY
  ELLDTADLPQLESSLQPVSPGRLDVSESGVLMRRRPARRILSQVTMLAFQGDALLEQISVIGGNLTGIFIHRVTP
  GSAADQMALRPGTQIVMVDYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTDGYKRLLQDLEAKVATS
  GDSFYIRVNLAMEGRAKGELQVHCNEVLHVTDTMFQGCGCWHAHRVNSYTMKDTAAHGTIPNYSRAQQQLIALIQ
  DMTQQCTVTRKPSSGGPQKLVRIVSMDKAKASPLRLSFDRGQLDPSRMEGSSTCFWAESCLTLVPYTLVRPHRPA
  RPRPVLLVPRAVGKILSEKLCLLQGFKKCLAEYLSQEEYEAWSQRGDIIQEGEVSGGRCWVTRHAVESLMEKNTH
  ALLDVQLDSVCTLHRMDIFPIVIHVSVNEKMAKKLKKGLQRLGTSEEQLLEAARQEEGDLDRAPCLYSSLAPDGW
  SDLDGLLSCVRQAIADEQKKVVWTEQSPR

• Structural information:
  • Protein Domains: (15..10-)
    (/note="CARD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00046-)
    (568..65-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (807..99-)
    (/note="Guanylate-kinase-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR001315  IPR011029  IPR008145  IPR008144  IPR027417   IPR001478  IPR036034  
  • Prosite: PS50209 PS50052 PS50106
  • STRING: ENSP00000458715
• Other Databases: GeneCards:  CARD14  Malacards:  CARD14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0005886	plasma membrane	NAS	cellular component
GO:0050700	CARD domain binding	IPI	molecular function
GO:0007250	activation of NF-kappaB-inducing kinase activity	NAS	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0050700	CARD domain binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04064	NF-kappa B signaling pathway

Diseases

Associated diseases	References
Psoriasis	KEGG:H01656
Pityriasis rubra pilaris	KEGG:H01659
Psoriasis	KEGG:H01656
Pityriasis rubra pilaris	KEGG:H01659
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq