ZBTB18 (zinc finger and BTB domain containing 18)

2010-03-01  

Identity

HGNC
ZBTB18
LOCATION
1q44
LOCUSID
10472
ALIAS
C2H2-171,MRD22,RP58,TAZ-1,ZNF238
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10472
MIM: 608433
HGNC: 13030
Ensembl: ENSG00000179456

Variants:

dbSNP: 10472
ClinVar: 10472
TCGA: ENSG00000179456
COSMIC: ZBTB18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179456ENST00000358704Q99592
ENSG00000179456ENST00000622512Q99592

Expression (GTEx)

0
100
200
300
400
500
600
700
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

References

Pubmed IDYearTitleCitations
220952782012RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.22
201036402010ZNF238 is expressed in postmitotic brain cells and inhibits brain tumor growth.14
282838322017Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.14
275988232017Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.3
285122522017Epigenetic Regulation of ZBTB18 Promotes Glioblastoma Progression.3
283457862017A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.1
258174802015Analysis of tandem E-box motifs within human Complement receptor 2 (CR2/CD21) promoter reveals cell specific roles for RP58, E2A, USF and localized chromatin accessibility.0
311123172019Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex.0

Citation

Dessen P

ZBTB18 (zinc finger and BTB domain containing 18)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51384/zbtb18-(zinc-finger-and-btb-domain-containing-18)