Aliases for ZNF521 Gene

Aliases for ZNF521 Gene

  • Zinc Finger Protein 521 2 3 4 5
  • EHZF 2 3 4
  • Early Hematopoietic Zinc Finger Protein 3 4
  • LYST-Interacting Protein 3 3 4
  • Evi3 2 3
  • Early Hematopoietic Zinc Finger 2
  • ZNF521 5
  • LIP3 4

External Ids for ZNF521 Gene

Previous GeneCards Identifiers for ZNF521 Gene

  • GC18M020894
  • GC18M020895
  • GC18M022641
  • GC18M019498

Summaries for ZNF521 Gene

GeneCards Summary for ZNF521 Gene

ZNF521 (Zinc Finger Protein 521) is a Protein Coding gene. Diseases associated with ZNF521 include Invasive Bladder Transitional Cell Carcinoma. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protein domain specific binding. An important paralog of this gene is ZNF423.

UniProtKB/Swiss-Prot Summary for ZNF521 Gene

  • Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signaling and in the regulation of the immature compartment of the hematopoietic system. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved specification of B-cell lineage; this interaction preventing EBF1 to bind DNA and activate target genes.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF521 Gene

Genomics for ZNF521 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF521 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF521 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF521

Top Transcription factor binding sites by QIAGEN in the ZNF521 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • FOXL1
  • NF-Y
  • NF-YA
  • NF-YB
  • p300
  • STAT5B

Genomic Locations for ZNF521 Gene

Genomic Locations for ZNF521 Gene
chr18:25,061,924-25,352,194
(GRCh38/hg38)
Size:
290,271 bases
Orientation:
Minus strand
chr18:22,641,888-22,932,214
(GRCh37/hg19)
Size:
290,327 bases
Orientation:
Minus strand

Genomic View for ZNF521 Gene

Genes around ZNF521 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF521 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF521 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF521 Gene

Proteins for ZNF521 Gene

  • Protein details for ZNF521 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96K83-ZN521_HUMAN
    Recommended name:
    Zinc finger protein 521
    Protein Accession:
    Q96K83
    Secondary Accessions:
    • A3QVP7
    • B0YJB7
    • Q8IXI0
    • Q8TES6
    • Q9C065
    • Q9HAL5
    • Q9UFK4

    Protein attributes for ZNF521 Gene

    Size:
    1311 amino acids
    Molecular mass:
    147866 Da
    Quaternary structure:
    • Interacts with EBF1. Interacts with SMAD1 and SMAD4.
    SequenceCaution:
    • Sequence=ABI33104.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB13829.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ZNF521 Gene

Post-translational modifications for ZNF521 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF521 Gene

Domains & Families for ZNF521 Gene

Gene Families for ZNF521 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF521 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF521 Gene

GenScript: Design optimal peptide antigens:
  • ZNF521 protein (Q8IYZ2_HUMAN)
  • LYST-interacting protein 3 (ZN521_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96K83

UniProtKB/Swiss-Prot:

ZN521_HUMAN :
  • Uses different DNA- and protein-binding zinc fingers to regulate the distinct BMP-Smad and hematopoietic system.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Domain:
  • Uses different DNA- and protein-binding zinc fingers to regulate the distinct BMP-Smad and hematopoietic system.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF521: view

Function for ZNF521 Gene

Molecular function for ZNF521 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signaling and in the regulation of the immature compartment of the hematopoietic system. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved specification of B-cell lineage; this interaction preventing EBF1 to bind DNA and activate target genes.

Phenotypes From GWAS Catalog for ZNF521 Gene

Gene Ontology (GO) - Molecular Function for ZNF521 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IBA --
GO:0003700 DNA-binding transcription factor activity IBA --
GO:0019904 protein domain specific binding IPI 11984006
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF521: view
genes like me logo Genes that share phenotypes with ZNF521: view

Animal Models for ZNF521 Gene

MGI Knock Outs for ZNF521:

Animal Model Products

CRISPR Products

miRNA for ZNF521 Gene

miRTarBase miRNAs that target ZNF521

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF521

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZNF521 Gene

Localization for ZNF521 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF521 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 ZNF521 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF521 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12393497
genes like me logo Genes that share ontologies with ZNF521: view

Pathways & Interactions for ZNF521 Gene

PathCards logo

SuperPathways for ZNF521 Gene

No Data Available

SIGNOR curated interactions for ZNF521 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for ZNF521 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:0048663 neuron fate commitment IEA --
genes like me logo Genes that share ontologies with ZNF521: view

No data available for Pathways by source for ZNF521 Gene

Drugs & Compounds for ZNF521 Gene

(2) Drugs for ZNF521 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
CE(18:2(9Z,12Z)) Experimental Pharma Target 0
Tricosanoic acid Experimental Pharma Target 0
genes like me logo Genes that share compounds with ZNF521: view

Transcripts for ZNF521 Gene

mRNA/cDNA for ZNF521 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF521

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF521 Gene

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

Relevant External Links for ZNF521 Gene

GeneLoc Exon Structure for
ZNF521

Expression for ZNF521 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF521 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZNF521 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x8.6) and Brain - Cerebellum (x7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZNF521 Gene



Protein tissue co-expression partners for ZNF521 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF521

SOURCE GeneReport for Unigene cluster for ZNF521 Gene:

Hs.116935

mRNA Expression by UniProt/SwissProt for ZNF521 Gene:

Q96K83-ZN521_HUMAN
Tissue specificity: Predominantly expressed in hematopoietic cells. Present in organs and tissues that contain stem and progenitor cells, myeloid and/or lymphoid: placenta, spleen, lymph nodes, thymus, bone marrow and fetal liver. Within the hematopoietic system, it is abundant in CD34(+) cells but undetectable in mature peripheral blood leukocytes, and its levels rapidly decrease during the differentiation of CD34(+) cells in response to hemopoietins.

Evidence on tissue expression from TISSUES for ZNF521 Gene

  • Nervous system(4.8)
  • Spleen(4.3)
  • Skin(2.2)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with ZNF521: view

Primer Products

No data available for Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF521 Gene

Orthologs for ZNF521 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZNF521 Gene

Organism Taxonomy Gene Similarity Type Details
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 100 (a)
OneToMany
-- 31
  • 92 (a)
OneToMany
Chimpanzee
(Pan troglodytes)
Mammalia ZNF521 30 31
  • 99.64 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZNF521 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ZNF521 30 31
  • 92.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZNF521 30 31
  • 88.94 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zfp521 30 17 31
  • 88.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zfp521 30
  • 87.81 (n)
Chicken
(Gallus gallus)
Aves ZNF521 30 31
  • 85.13 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZNF521 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia znf521 30
  • 78.59 (n)
Str.18842 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.14698 30
Zebrafish
(Danio rerio)
Actinopterygii CU861664.1 31
  • 43 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Oaz 31
  • 25 (a)
OneToMany
Species where no ortholog for ZNF521 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Worm (Caenorhabditis elegans)

Evolution for ZNF521 Gene

ENSEMBL:
Gene Tree for ZNF521 (if available)
TreeFam:
Gene Tree for ZNF521 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF521: view image

Paralogs for ZNF521 Gene

Paralogs for ZNF521 Gene

genes like me logo Genes that share paralogs with ZNF521: view

Variants for ZNF521 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF521 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
741311 Likely Benign: not provided 25,322,048(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
773597 Benign: not provided 25,227,603(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs200375993 Uncertain Significance: not provided 25,227,220(-) G/A MISSENSE_VARIANT
rs367580254 Uncertain Significance: not provided 25,225,707(-) A/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ZNF521 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNF521 Gene

Variant ID Type Subtype PubMed ID
dgv1567n106 CNV deletion 24896259
dgv56n6 CNV deletion 16902084
esv1005517 CNV insertion 20482838
esv1007123 CNV deletion 20482838
esv1137776 CNV deletion 17803354
esv2660658 CNV deletion 23128226
esv2663271 CNV deletion 23128226
esv2716872 CNV deletion 23290073
esv2716874 CNV deletion 23290073
esv2908 CNV loss 18987735
esv3138234 CNV deletion 24192839
esv3555139 CNV deletion 23714750
esv3555140 CNV deletion 23714750
esv3582989 CNV loss 25503493
esv3641996 CNV loss 21293372
esv3641997 CNV loss 21293372
esv8931 CNV loss 19470904
nsv1070870 CNV deletion 25765185
nsv1070871 CNV deletion 25765185
nsv1109136 CNV deletion 24896259
nsv1136249 CNV deletion 24896259
nsv1153522 CNV deletion 26484159
nsv131198 CNV deletion 16902084
nsv510733 CNV deletion 20534489
nsv521168 CNV loss 19592680
nsv527984 CNV loss 19592680
nsv828193 CNV gain 20364138
nsv828194 CNV gain 20364138

Variation tolerance for ZNF521 Gene

Residual Variation Intolerance Score: 0.928% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF521 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF521

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF521 Gene

Disorders for ZNF521 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZNF521 Gene - From: DISEASES

Disorder Aliases PubMed IDs
invasive bladder transitional cell carcinoma
  • invasive bladder urothelial carcinoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZN521_HUMAN
  • Note=A chromosomal aberration involving ZNF521 is found in acute lymphoblastic leukemia. Translocation t(9;18)(p13;q11.2) with PAX5. The translocation generates the PAX5-ZNF521 oncogene consisting of the N-terminus part of PAX5 and the C-terminus part of ZNF521. {ECO:0000269 PubMed:17344859}.

Additional Disease Information for ZNF521

genes like me logo Genes that share disorders with ZNF521: view

No data available for Genatlas for ZNF521 Gene

Publications for ZNF521 Gene

  1. Early hematopoietic zinc finger protein (EHZF), the human homolog to mouse Evi3, is highly expressed in primitive human hematopoietic cells. (PMID: 14630787) Bond HM … Venuta S (Blood 2004) 2 3 4 23
  2. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. (PMID: 11984006) Tchernev VT … Kingsmore SF (Molecular medicine (Cambridge, Mass.) 2002) 2 3 4
  3. Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. (PMID: 22379998) McCormack M … Cavalleri GL (Pharmacogenomics 2012) 3 41
  4. Zinc finger protein 521, a new player in bone formation. (PMID: 20392215) Hesse E … Baron R (Annals of the New York Academy of Sciences 2010) 3 23
  5. The role of zinc finger protein 521/early hematopoietic zinc finger protein in erythroid cell differentiation. (PMID: 19049973) Matsubara E … Yasukawa M (The Journal of biological chemistry 2009) 3 23

Products for ZNF521 Gene

Sources for ZNF521 Gene