FBXL19 (F-box and leucine rich repeat protein 19)

2014-11-01  

Identity

HGNC
FBXL19
LOCATION
16p11.2
LOCUSID
54620
ALIAS
CXXC11,Fbl19,JHDM1C
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54620
MIM: 609085
HGNC: 25300
Ensembl: ENSG00000099364

Variants:

dbSNP: 54620
ClinVar: 54620
TCGA: ENSG00000099364
COSMIC: FBXL19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099364ENST00000338343H3BPZ0
ENSG00000099364ENST00000380310Q6PCT2
ENSG00000099364ENST00000427128H7C112
ENSG00000099364ENST00000471231H3BVB1
ENSG00000099364ENST00000562319H3BPZ0
ENSG00000099364ENST00000562798H3BQP6
ENSG00000099364ENST00000565690H3BME1
ENSG00000099364ENST00000565939H3BTJ3
ENSG00000099364ENST00000566320H3BPI8

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713366Tumor necrosis factor alpha (TNF-alpha) inhibitorsChemicalClinicalAnnotation, VariantAnnotationassociatedPD26194362
PA445451PsoriasisDiseaseClinicalAnnotation, VariantAnnotationassociatedPD26194362

References

Pubmed IDYearTitleCitations
209531892010Genome-wide association analysis identifies three psoriasis susceptibility loci.106
246848022014F-box protein complex FBXL19 regulates TGFβ1-induced E-cadherin down-regulation by mediating Rac3 ubiquitination and degradation.17

Citation

Dessen P

FBXL19 (F-box and leucine rich repeat protein 19)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63315/fbxl19