ZNF462 (zinc finger protein 462)

2018-11-01  

Identity

HGNC
ZNF462
LOCATION
9q31.2
LOCUSID
58499
ALIAS
WSKA,ZFPIP,Zfp462
FUSION GENES
Show Gene Fusions

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
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
364617892023Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.2
364617892023Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.2
313614042019Phenotype delineation of ZNF462 related syndrome.15
313614042019Phenotype delineation of ZNF462 related syndrome.15
294277872018ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.9
294277872018ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.9
285136102017Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.18
285136102017Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.18
228264402012Discovery of O-GlcNAc-6-phosphate modified proteins in large-scale phosphoproteomics data.7
228264402012Discovery of O-GlcNAc-6-phosphate modified proteins in large-scale phosphoproteomics data.7
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.57
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28
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
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.57
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28

Citation

Dessen P

ZNF462 (zinc finger protein 462)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57709/css/lib/dataTables.bootstrap.min.css