Aliases for ZNF253 Gene

Aliases for ZNF253 Gene

  • Zinc Finger Protein 253 2 3 4 5
  • Zinc Finger Protein 411 2 3 4
  • BMZF-1 2 3 4
  • Bone Marrow Zinc Finger 1 3 4
  • ZNF411 3 4
  • BMZF1 3 4
  • DNA-Binding Protein 3
  • FLJ90391 2
  • ZNF253 5

External Ids for ZNF253 Gene

Previous HGNC Symbols for ZNF253 Gene

  • ZNF411

Previous GeneCards Identifiers for ZNF253 Gene

  • GC19U990224
  • GC19P020380
  • GC19P019821
  • GC19P019850
  • GC19P019978

Summaries for ZNF253 Gene

GeneCards Summary for ZNF253 Gene

ZNF253 (Zinc Finger Protein 253) is a Protein Coding gene. Diseases associated with ZNF253 include Hypertrichosis Universalis Congenita, Ambras Type. Among its related pathways are Gene Expression and Herpes simplex virus 1 infection. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF737.

UniProtKB/Swiss-Prot Summary for ZNF253 Gene

  • May function as a transcription factor. Seem to have a transcriptional repression activity.

Additional gene information for ZNF253 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF253 Gene

Genomics for ZNF253 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF253 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
GH19J019865 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 608.6 +1.1 1071 3.8 SP1 HNRNPL PRDM10 REST TFE3 ZNF512 IKZF1 NFRKB POLR2A FOS ZNF253 ZNF93 ZNF506 ZNF14 PBX4 ENSG00000274800 ZNF101 ZNF682 LPAR2 BNIP3P10
GH19J019374 Enhancer 1 ENCODE dbSUPER 46.3 -490.7 -490667 0.9 ZNF341 SCRT2 RBAK ZNF140 ZNF639 KLF7 ZXDB ZNF138 ZNF580 ZNF266 piR-45035-101 NR2C2AP ATP13A1 ENSG00000268030 ENSG00000267481 ZNF90 UPF1 ZNF253 MAU2 ZNF14
GH19J019217 Enhancer 0.7 Ensembl 12.9 -648.5 -648460 0.5 CTCF REST CBX3 ZNF23 ZNF444 ZNF316 MLLT1 ZBTB17 TRIM28 EHMT2 ZNF253 LINC00663 SUGP2 ENSG00000267565 NCAN RF00026-501 RNU6-1028P HAPLN4
GH19J019470 Enhancer 0.6 Ensembl dbSUPER 9.8 -394.5 -394530 3.4 RUNX3 NFE2 SPI1 EBF1 HNF4A ZNF507 piR-49011 piR-54620 NDUFA13 GATAD2A ZNF253 MAU2 YJEFN3 TM6SF2 lnc-TSSK6-4 MIR640
GH19J020051 Promoter/Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas 1.3 +186.5 186507 1.9 CREB1 ATF7 PRDM10 REST ZHX2 FOXA1 ZNF143 RFX1 POLR2A PATZ1 LOC105372309 ZNF682 ZNF253 ZNF506 piR-30791-041 ZNF90
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF253 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF253

Top Transcription factor binding sites by QIAGEN in the ZNF253 gene promoter:
  • aMEF-2
  • AP-1
  • AREB6
  • ATF-2
  • c-Jun
  • MEF-2
  • MEF-2A

Genomic Locations for ZNF253 Gene

Genomic Locations for ZNF253 Gene
chr19:19,865,830-19,894,674
(GRCh38/hg38)
Size:
28,845 bases
Orientation:
Plus strand
chr19:19,976,695-20,005,483
(GRCh37/hg19)
Size:
28,789 bases
Orientation:
Plus strand

Genomic View for ZNF253 Gene

Genes around ZNF253 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF253 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF253 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF253 Gene

Proteins for ZNF253 Gene

  • Protein details for ZNF253 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75346-ZN253_HUMAN
    Recommended name:
    Zinc finger protein 253
    Protein Accession:
    O75346
    Secondary Accessions:
    • A4FVA7
    • Q0P6G3
    • Q6P0L2
    • Q8NCA3
    • Q8NCF9

    Protein attributes for ZNF253 Gene

    Size:
    499 amino acids
    Molecular mass:
    57602 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH14148.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11257.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ZNF253 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF253 Gene

Post-translational modifications for ZNF253 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF253 Gene

No data available for DME Specific Peptides for ZNF253 Gene

Domains & Families for ZNF253 Gene

Gene Families for ZNF253 Gene

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

Protein Domains for ZNF253 Gene

InterPro:
Blocks:
  • C2H2-type zinc finger signature
  • KRAB box
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF253 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 411 (ZN253_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75346

UniProtKB/Swiss-Prot:

ZN253_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF253: view

Function for ZNF253 Gene

Molecular function for ZNF253 Gene

UniProtKB/Swiss-Prot Function:
May function as a transcription factor. Seem to have a transcriptional repression activity.

Gene Ontology (GO) - Molecular Function for ZNF253 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0008270 zinc ion binding NAS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF253: view
genes like me logo Genes that share phenotypes with ZNF253: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF253

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF253 Gene

Localization for ZNF253 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF253 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 ZNF253 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for ZNF253 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
genes like me logo Genes that share ontologies with ZNF253: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZNF253 Gene

Pathways & Interactions for ZNF253 Gene

genes like me logo Genes that share pathways with ZNF253: view

Pathways by source for ZNF253 Gene

2 Reactome pathways for ZNF253 Gene
1 KEGG pathway for ZNF253 Gene

Gene Ontology (GO) - Biological Process for ZNF253 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA,IBA 21873635
GO:0045892 negative regulation of transcription, DNA-templated NAS 10585455
genes like me logo Genes that share ontologies with ZNF253: view

No data available for SIGNOR curated interactions for ZNF253 Gene

Drugs & Compounds for ZNF253 Gene

No Compound Related Data Available

Transcripts for ZNF253 Gene

mRNA/cDNA for ZNF253 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 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 ZNF253

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF253 Gene

No ASD Table

Relevant External Links for ZNF253 Gene

GeneLoc Exon Structure for
ZNF253

Expression for ZNF253 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF253 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF253

mRNA Expression by UniProt/SwissProt for ZNF253 Gene:

O75346-ZN253_HUMAN
Tissue specificity: Expressed in bone marrow and in monocytic and immature erythroid cell lines.

Evidence on tissue expression from TISSUES for ZNF253 Gene

  • Bone marrow(4)
  • Eye(4)
genes like me logo Genes that share expression patterns with ZNF253: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF253 Gene

Orthologs for ZNF253 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF253 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNF253 30 31
  • 99.1 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zfp65 30 17
  • 67.43 (n)
Zfp386 31
  • 33 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 49 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 49 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 34 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 48 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
-- 31
  • 31 (a)
ManyToMany
-- 31
  • 29 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
Species where no ortholog for ZNF253 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ZNF253 Gene

ENSEMBL:
Gene Tree for ZNF253 (if available)
TreeFam:
Gene Tree for ZNF253 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF253: view image

Paralogs for ZNF253 Gene

(541) SIMAP similar genes for ZNF253 Gene using alignment to 2 proteins:

  • ZN253_HUMAN
  • K7EP55_HUMAN
genes like me logo Genes that share paralogs with ZNF253: view

Variants for ZNF253 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF253 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
719523 Benign: not provided 19,891,764(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ZNF253 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNF253 Gene

Variant ID Type Subtype PubMed ID
dgv3456n100 CNV gain 25217958
dgv509e201 CNV deletion 23290073
esv2259143 CNV deletion 18987734
esv2718296 CNV deletion 23290073
esv2718298 CNV deletion 23290073
esv2718299 CNV deletion 23290073
esv3643860 CNV loss 21293372
esv3893169 CNV loss 25118596
nsv1061846 CNV loss 25217958
nsv1066792 CNV gain 25217958
nsv138332 CNV deletion 16902084
nsv519535 CNV gain 19592680
nsv961192 CNV duplication 23825009

Variation tolerance for ZNF253 Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF253 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF253

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF253 Gene

Disorders for ZNF253 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZNF253 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypertrichosis universalis congenita, ambras type
  • htc1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ZNF253: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF253 Gene

Publications for ZNF253 Gene

  1. Molecular cloning of six novel Krüppel-like zinc finger genes from hematopoietic cells and identification of a novel transregulatory domain KRNB. (PMID: 10585455) Han ZG … Chen Z (The Journal of biological chemistry 1999) 2 3 4
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
  4. LDOC1, a novel MZF-1-interacting protein, induces apoptosis. (PMID: 15670815) Inoue M … Ra C (FEBS letters 2005) 3
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 4

Products for ZNF253 Gene

Sources for ZNF253 Gene