CARD14 (caspase recruitment domain family member 14)

2006-10-01  

Identity

HGNC
CARD14
LOCATION
17q25.3
LOCUSID
79092
ALIAS
BIMP2,CARMA2,PRP,PSORS2,PSS1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

References

Pubmed IDYearTitleCitations
361747142023Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis.1
363318552023Correlation of IL36RN and CARD14 mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis.1
367249032023A novel mutation in a CARD14-associated papulosquamous eruption.0
361747142023Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis.1
363318552023Correlation of IL36RN and CARD14 mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis.1
367249032023A novel mutation in a CARD14-associated papulosquamous eruption.0
342710602022Novel role for caspase recruitment domain family member 14 and its genetic variant rs11652075 in skin filaggrin homeostasis.7
360126022022Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis.0
362214322022Association between CARD14 gene polymorphisms and psoriasis vulgaris in Hainan Han population based on exon sequencing: A case-control study.1
342710602022Novel role for caspase recruitment domain family member 14 and its genetic variant rs11652075 in skin filaggrin homeostasis.7
360126022022Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis.0
362214322022Association between CARD14 gene polymorphisms and psoriasis vulgaris in Hainan Han population based on exon sequencing: A case-control study.1
340041382021Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.3
344482482021CARD14-associated papulosquamous eruption (CAPE) in pediatric patients: Three additional cases and review of the literature.7
345814552021GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.3

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-(caspase-recruitment-domain-family-member-14)