Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ZNF462 Gene

Aliases for ZNF462 Gene

  • Zinc Finger Protein 462 2 3 4 5
  • Zinc Finger PBX1-Interacting Protein 3 4
  • ZFPIP 3 4
  • KIAA1803 4
  • Zfp462 3

External Ids for ZNF462 Gene

Previous GeneCards Identifiers for ZNF462 Gene

  • GC09P105069
  • GC09P106704
  • GC09P108665
  • GC09P109626
  • GC09P079228

Summaries for ZNF462 Gene

Entrez Gene Summary for ZNF462 Gene

  • The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

GeneCards Summary for ZNF462 Gene

ZNF462 (Zinc Finger Protein 462) is a Protein Coding gene. Diseases associated with ZNF462 include Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome and Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF521.

UniProtKB/Swiss-Prot for ZNF462 Gene

  • Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG (PubMed:21570965). By binding PBX1, prevents the heterodimerization of PBX1 and HOXA9 and their binding to DNA (By similarity). Regulates neuronal development and neural cell differentiation (PubMed:21570965).

Additional gene information for ZNF462 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF462 Gene

Genomics for ZNF462 Gene

GeneHancer (GH) Regulatory Elements for ZNF462 Gene

Promoters and enhancers for ZNF462 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J106859 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1012.7 +2.6 2599 7.5 ZNF687 ZSCAN21 MLLT1 SP7 YY1 POLR2A PRDM1 RAD21 GLIS2 IKZF1 ZNF462 LOC105376204 GC09P106921
GH09J106876 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 28.3 +22.0 22043 10.7 MAFK PRDM10 ZNF600 ZNF629 REST ZNF561 SCRT2 MYNN FOS POLR2A ZNF462 LOC105376204 GC09P106921
GH09J106888 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 23.6 +31.4 31421 6.4 ZNF687 NCOA3 SP7 PRDM1 MZF1 FOSL2 IKZF1 CREB1 IKZF2 ZSCAN4 ZNF462 GC09P106921 LOC105376204
GH09J106914 Enhancer 1.7 UCNEbase Ensembl ENCODE dbSUPER 16 +58.9 58925 9 ZNF687 ZNF148 MLLT1 SP7 YY1 PRDM1 MZF1 ZNF680 ZNF560 KAT8 ZNF462 GC09P106921 LOC105376204
GH09J107019 Enhancer 0.8 Ensembl ENCODE 25.3 +159.7 159736 2.2 RELA IKZF1 IKZF2 DPF2 RUNX3 BMI1 NR2F1 NBN ATF7 ZNF217 ZNF462 RPL7AP44 LOC340512
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF462 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZNF462 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • GATA-3
  • p300
  • POU2F1
  • POU2F1a
  • Roaz
  • SRF
  • SRF (504 AA)

Genomic Locations for ZNF462 Gene

Genomic Locations for ZNF462 Gene
chr9:106,860,165-107,013,634
(GRCh38/hg38)
Size:
153,470 bases
Orientation:
Plus strand
chr9:109,625,378-109,775,915
(GRCh37/hg19)
Size:
150,538 bases
Orientation:
Plus strand

Genomic View for ZNF462 Gene

Genes around ZNF462 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF462 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF462 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF462 Gene

Proteins for ZNF462 Gene

  • Protein details for ZNF462 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JM2-ZN462_HUMAN
    Recommended name:
    Zinc finger protein 462
    Protein Accession:
    Q96JM2
    Secondary Accessions:
    • Q5T0T4
    • Q8N408

    Protein attributes for ZNF462 Gene

    Size:
    2506 amino acids
    Molecular mass:
    284688 Da
    Quaternary structure:
    • Interacts with PBX1; this interaction prevents PBX1-HOXA9 heterodimer from forming and binding to DNA.
    SequenceCaution:
    • Sequence=AAH36884.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZNF462 Gene

    Alternative splice isoforms for ZNF462 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF462 Gene

Post-translational modifications for ZNF462 Gene

  • O-GlcNAcylated with O-GlcNAc-6-phosphate.
  • Glycosylation at posLast=292292 and posLast=309309
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZNF462 Gene

Domains & Families for ZNF462 Gene

Gene Families for ZNF462 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF462 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF462 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 462 (Q5T0T2_HUMAN)
  • Zinc finger protein 462 (Q5T0T3_HUMAN)
  • Zinc finger protein 462 (ZN462_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ZNF462: view

No data available for UniProtKB/Swiss-Prot for ZNF462 Gene

Function for ZNF462 Gene

Molecular function for ZNF462 Gene

UniProtKB/Swiss-Prot Function:
Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG (PubMed:21570965). By binding PBX1, prevents the heterodimerization of PBX1 and HOXA9 and their binding to DNA (By similarity). Regulates neuronal development and neural cell differentiation (PubMed:21570965).

Phenotypes From GWAS Catalog for ZNF462 Gene

Gene Ontology (GO) - Molecular Function for ZNF462 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 27705803
genes like me logo Genes that share ontologies with ZNF462: view
genes like me logo Genes that share phenotypes with ZNF462: view

Animal Model Products

CRISPR Products

miRNA for ZNF462 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF462

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF462 Gene

Localization for ZNF462 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF462 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF462 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF462 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 colocalizes_with nucleus IBA 21873635
GO:0035097 colocalizes_with histone methyltransferase complex IBA 21873635
genes like me logo Genes that share ontologies with ZNF462: view

Pathways & Interactions for ZNF462 Gene

PathCards logo

SuperPathways for ZNF462 Gene

genes like me logo Genes that share pathways with ZNF462: view

Pathways by source for ZNF462 Gene

2 BioSystems pathways for ZNF462 Gene

Gene Ontology (GO) - Biological Process for ZNF462 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0010468 regulation of gene expression IBA 21873635
GO:0043392 negative regulation of DNA binding IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with ZNF462: view

No data available for SIGNOR curated interactions for ZNF462 Gene

Drugs & Compounds for ZNF462 Gene

No Compound Related Data Available

Transcripts for ZNF462 Gene

mRNA/cDNA for ZNF462 Gene

Unigene Clusters for ZNF462 Gene

Zinc finger protein 462:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF462

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF462 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^
SP1: - - -
SP2: - - - -
SP3: - - -
SP4:
SP5: - - - - - -
SP6:
SP7: -
SP8:
SP9: - - - -

ExUns: 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ZNF462 Gene

GeneLoc Exon Structure for
ZNF462
ECgene alternative splicing isoforms for
ZNF462

Expression for ZNF462 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNF462 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZNF462 Gene

This gene is overexpressed in Cervix (56.2) and Bone (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNF462 Gene



NURSA nuclear receptor signaling pathways regulating expression of ZNF462 Gene:

ZNF462

SOURCE GeneReport for Unigene cluster for ZNF462 Gene:

Hs.370379

Evidence on tissue expression from TISSUES for ZNF462 Gene

  • Nervous system(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with ZNF462: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF462 Gene

Orthologs for ZNF462 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZNF462 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF462 35 34
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZNF462 35 34
  • 92.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZNF462 35 34
  • 90.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zfp462 17 35 34
  • 90.09 (n)
rat
(Rattus norvegicus)
Mammalia Zfp462 34
  • 89.54 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF462 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZNF462 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZNF462 35 34
  • 78.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 81 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia znf462 34
  • 67.51 (n)
zebrafish
(Danio rerio)
Actinopterygii znf462 34
  • 60.75 (n)
ZNF462 35
  • 52 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7801 34
fruit fly
(Drosophila melanogaster)
Insecta hb 35
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hbl-1 35
  • 15 (a)
OneToMany
Species where no ortholog for ZNF462 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ZNF462 Gene

ENSEMBL:
Gene Tree for ZNF462 (if available)
TreeFam:
Gene Tree for ZNF462 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF462: view image

Paralogs for ZNF462 Gene

Paralogs for ZNF462 Gene

(8) SIMAP similar genes for ZNF462 Gene using alignment to 5 proteins:

  • ZN462_HUMAN
  • F5H0Z0_HUMAN
  • H0Y6H9_HUMAN
  • H3BLX4_HUMAN
  • U3KQU3_HUMAN
genes like me logo Genes that share paralogs with ZNF462: view

Variants for ZNF462 Gene

Sequence variations from dbSNP and Humsavar for ZNF462 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1060499549 pathogenic, Craniosynostosis, Mental retardation, autosomal dominant 106,927,699(+) C/T coding_sequence_variant, intron_variant, stop_gained
rs1060499550 pathogenic, Craniosynostosis, Mental retardation, autosomal dominant 106,926,891(+) TG/A coding_sequence_variant, frameshift
rs1060499551 pathogenic, Craniosynostosis, Mental retardation, autosomal dominant 106,928,174(+) AA/A coding_sequence_variant, frameshift, intron_variant
rs1554703226 pathogenic, not provided 106,924,740(+) CAGACAG/CAG coding_sequence_variant, frameshift
rs1554703536 pathogenic, not provided 106,925,147(+) /AA coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for ZNF462 Gene

Variant ID Type Subtype PubMed ID
esv2669661 CNV deletion 23128226
esv2673055 CNV deletion 23128226
esv2738890 CNV deletion 23290073
esv29808 CNV loss 19812545
esv3545265 CNV deletion 23714750
esv3621391 CNV loss 21293372
esv3621392 CNV loss 21293372
nsv474945 CNV novel sequence insertion 20440878
nsv831680 CNV loss 17160897
nsv950923 CNV deletion 24416366
nsv968743 CNV duplication 23825009

Variation tolerance for ZNF462 Gene

Residual Variation Intolerance Score: 0.608% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.98; 87.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF462 Gene

Human Gene Mutation Database (HGMD)
ZNF462
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF462

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF462 Gene

Disorders for ZNF462 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ZNF462 Gene - From: HGMD, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZNF462

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ZNF462: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF462 Gene

Publications for ZNF462 Gene

  1. Discovery of O-GlcNAc-6-phosphate modified proteins in large-scale phosphoproteomics data. (PMID: 22826440) Hahne H … Kuster B (Molecular & cellular proteomics : MCP 2012) 3 4 58
  2. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. (PMID: 20080650) Xu J … Isaacs WB (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 45 58
  3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 45 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 58
  5. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PMID: 19266077) Sovio U … Jarvelin MR (PLoS genetics 2009) 3 45 58

Products for ZNF462 Gene

Sources for ZNF462 Gene

Content
Loading form....