CARD14 (caspase recruitment domain family member 14)

2006-10-01  

Identity

HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
BIMP2,CARMA2,PRP,PSORS2,PSS1
FUSION GENES

Other Information

Locus ID:

NCBI: 79092
MIM: 607211
HGNC: 16446
Ensembl: ENSG00000141527

Variants:

dbSNP: 79092
ClinVar: 79092
TCGA: ENSG00000141527
COSMIC: CARD14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141527ENST00000344227Q9BXL6
ENSG00000141527ENST00000570421Q9BXL6
ENSG00000141527ENST00000571450I3L3F1
ENSG00000141527ENST00000573882Q9BXL6
ENSG00000141527ENST00000575465I3L1Z7
ENSG00000141527ENST00000575500I3L414
ENSG00000141527ENST00000648128A0A3B3ITQ9
ENSG00000141527ENST00000648509Q9BXL6
ENSG00000141527ENST00000650867A0A494C0J4
ENSG00000141527ENST00000651068A0A494BZY0
ENSG00000141527ENST00000651388A0A494C199
ENSG00000141527ENST00000651672A0A494C1N2

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
NF-kappa B signaling pathwayKEGGhsa04064
NF-kappa B signaling pathwayKEGGko04064

References

Pubmed IDYearTitleCitations
225214182012PSORS2 is due to mutations in CARD14.95
225214192012Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.82
227038782012Familial pityriasis rubra pilaris is caused by mutations in CARD14.41
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
213023102011Alternative splicing of CARMA2/CARD14 transcripts generates protein variants with differential effect on NF-κB activation and endoplasmic reticulum stress-induced cell death.24
124832972003Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility.21
262036412015Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.18
259894712015Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.16
244766232014CARD14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort.15
271137482016The paracaspase MALT1 mediates CARD14-induced signaling in keratinocytes.15

Citation

Dessen P

CARD14 (caspase recruitment domain family member 14)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43190/card14