ZBTB42 (zinc finger and BTB domain containing 42)

2014-11-01  

Identity

HGNC
ZBTB42
LOCATION
14q32.33
LOCUSID
100128927
ALIAS
LCCS6,ZNF925
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 100128927
MIM: 613915
HGNC: 32550
Ensembl: ENSG00000179627

Variants:

dbSNP: 100128927
ClinVar: 100128927
TCGA: ENSG00000179627
COSMIC: ZBTB42

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179627ENST00000342537B2RXF5
ENSG00000179627ENST00000555360B2RXF5

Expression (GTEx)

0
5
10
15
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
250558712014ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).14
250558712014ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).14
211939302011Characterization of the ZBTB42 gene in humans and mice.4
211939302011Characterization of the ZBTB42 gene in humans and mice.4
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105

Citation

Dessen P

ZBTB42 (zinc finger and BTB domain containing 42)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75863/gene-explorer/js/lib/bootstrap.min.js