ZPBP2 (zona pellucida binding protein 2)

2014-11-01  

Identity

HGNC
LOCATION
17q21.1
LOCUSID
ALIAS
ZPBPL
FUSION GENES

Other Information

Locus ID:

NCBI: 124626
MIM: 608499
HGNC: 20678
Ensembl: ENSG00000186075

Variants:

dbSNP: 124626
ClinVar: 124626
TCGA: ENSG00000186075
COSMIC: ZPBP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186075ENST00000348931Q6X784
ENSG00000186075ENST00000377940Q6X784
ENSG00000186075ENST00000583811J3KSF6
ENSG00000186075ENST00000584588J3KRM0

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
197328642009Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.110
197328642009Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.110
176642852007Loss of zona pellucida binding proteins in the acrosomal matrix disrupts acrosome biogenesis and sperm morphogenesis.65
224642532012Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.60
222710452012Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines.23
266719132016Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population.3
282410632017Role of DNA methylation in expression control of the IKZF3-GSDMA region in human epithelial cells.2
256202892015The allele T of rs10852936 confers risk for early-onset psoriasis.1
315607282019Regulatory interaction between the ZPBP2-ORMDL3/Zpbp2-Ormdl3 region and the circadian clock.0

Citation

Dessen P

ZPBP2 (zona pellucida binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/76480/zpbp2