ZNF462 (zinc finger protein 462)

2018-11-01  

Identity

HGNC
LOCATION
9q31.2
LOCUSID
ALIAS
WSKA,ZFPIP,Zfp462
FUSION GENES

Other Information

Locus ID:

NCBI: 58499
MIM: 617371
HGNC: 21684
Ensembl: ENSG00000148143

Variants:

dbSNP: 58499
ClinVar: 58499
TCGA: ENSG00000148143
COSMIC: ZNF462

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148143ENST00000277225Q96JM2
ENSG00000148143ENST00000374686H3BLX4
ENSG00000148143ENST00000427098H0Y6H9
ENSG00000148143ENST00000441147Q96JM2
ENSG00000148143ENST00000472574U3KQU3

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.48
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.46
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
228264402012Discovery of O-GlcNAc-6-phosphate modified proteins in large-scale phosphoproteomics data.6
285136102017Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.5
294277872018ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.1

Citation

Dessen P

ZNF462 (zinc finger protein 462)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57709/znf462