Aliases for ZNF512B Gene

Aliases for ZNF512B Gene

  • Zinc Finger Protein 512B 2 3 4 5
  • GM632 2 3
  • MGC149845 2
  • MGC149846 2
  • KIAA1196 4
  • ZNF512B 5

External Ids for ZNF512B Gene

Previous GeneCards Identifiers for ZNF512B Gene

  • GC20M062062
  • GC20M062588
  • GC20M059323

Summaries for ZNF512B Gene

GeneCards Summary for ZNF512B Gene

ZNF512B (Zinc Finger Protein 512B) is a Protein Coding gene. Diseases associated with ZNF512B include Deafness, Autosomal Dominant 40. An important paralog of this gene is ZNF512.

UniProtKB/Swiss-Prot Summary for ZNF512B Gene

Additional gene information for ZNF512B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF512B Gene

Genomics for ZNF512B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF512B 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 ZNF512B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF512B

Top Transcription factor binding sites by QIAGEN in the ZNF512B gene promoter:
  • c-Myb
  • HFH-1
  • HNF-4alpha1
  • HNF-4alpha2
  • Lmo2
  • LUN-1
  • Nkx2-5
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for ZNF512B Gene

Genomic Locations for ZNF512B Gene
13,228 bases
Minus strand
92,059 bases
Minus strand

Genomic View for ZNF512B Gene

Genes around ZNF512B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF512B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF512B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF512B Gene

Proteins for ZNF512B Gene

  • Protein details for ZNF512B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger protein 512B
    Protein Accession:
    Secondary Accessions:
    • Q08AK9
    • Q9ULM4

    Protein attributes for ZNF512B Gene

    892 amino acids
    Molecular mass:
    97264 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ZNF512B Gene

neXtProt entry for ZNF512B Gene

Post-translational modifications for ZNF512B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF512B Gene

Domains & Families for ZNF512B Gene

Gene Families for ZNF512B Gene

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

Protein Domains for ZNF512B Gene


Suggested Antigen Peptide Sequences for ZNF512B Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 512B (Z512B_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF512B: view

Function for ZNF512B Gene

Molecular function for ZNF512B Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ZNF512B Gene

Gene Ontology (GO) - Molecular Function for ZNF512B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF512B: view
genes like me logo Genes that share phenotypes with ZNF512B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF512B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF512B Gene

Localization for ZNF512B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF512B Gene

Subcellular locations from

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 ZNF512B gene
Compartment Confidence
nucleus 5
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF512B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ZNF512B: view

Pathways & Interactions for ZNF512B Gene

PathCards logo

SuperPathways for ZNF512B Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF512B Gene


No data available for Pathways by source and SIGNOR curated interactions for ZNF512B Gene

Drugs & Compounds for ZNF512B Gene

No Compound Related Data Available

Transcripts for ZNF512B Gene

mRNA/cDNA for ZNF512B Gene

5 NCBI additional mRNA sequence :
1 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 ZNF512B

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF512B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17
SP1: -

Relevant External Links for ZNF512B Gene

GeneLoc Exon Structure for

Expression for ZNF512B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF512B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lung (Respiratory System)

Protein differential expression in normal tissues from HIPED for ZNF512B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (31.5) and Pancreas (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNF512B Gene

Protein tissue co-expression partners for ZNF512B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF512B

SOURCE GeneReport for Unigene cluster for ZNF512B Gene:


Evidence on tissue expression from TISSUES for ZNF512B Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with ZNF512B: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF512B Gene

Orthologs for ZNF512B Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF512B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ZNF512B 30 31
  • 97.97 (n)
(Canis familiaris)
Mammalia ZNF512B 30 31
  • 86.73 (n)
(Rattus norvegicus)
Mammalia Zfp512b 30
  • 85.89 (n)
(Mus musculus)
Mammalia Znf512b 30 31
  • 85.45 (n)
Zfp512b 17
(Bos Taurus)
Mammalia ZNF512B 30 31
  • 85.22 (n)
(Monodelphis domestica)
Mammalia ZNF512B 31
  • 64 (a)
(Ornithorhynchus anatinus)
Mammalia ZNF512B 31
  • 60 (a)
(Gallus gallus)
Aves UCKL1 30 31
  • 69.65 (n)
-- 31
  • 50 (a)
(Anolis carolinensis)
Reptilia ZNF512B 31
  • 56 (a)
(Danio rerio)
Actinopterygii si:dkey-256k13.2 30
  • 62.54 (n)
ZNF512B 31
  • 45 (a)
Species where no ortholog for ZNF512B 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)
  • 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)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ZNF512B Gene

Gene Tree for ZNF512B (if available)
Gene Tree for ZNF512B (if available)
Evolutionary constrained regions (ECRs) for ZNF512B: view image

Paralogs for ZNF512B Gene

Paralogs for ZNF512B Gene

(1) SIMAP similar genes for ZNF512B Gene using alignment to 1 proteins:

  • Z512B_HUMAN
genes like me logo Genes that share paralogs with ZNF512B: view

Variants for ZNF512B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF512B Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs45486695 - p.Val288Met
rs6062599 - p.Ala453Thr
rs817326 - p.Met372Val

Additional dbSNP identifiers (rs#s) for ZNF512B Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNF512B Gene

Variant ID Type Subtype PubMed ID
dgv7693n54 CNV loss 21841781
dgv7694n54 CNV loss 21841781
dgv7695n54 CNV gain+loss 21841781
dgv7696n54 CNV gain 21841781
dgv7697n54 CNV loss 21841781
dgv7698n54 CNV loss 21841781
esv2122070 CNV deletion 18987734
esv26243 CNV gain 19812545
esv2639361 CNV deletion 19546169
esv2665934 CNV deletion 23128226
esv3557375 CNV deletion 23714750
esv987667 CNV gain 20482838
nsv1071715 CNV deletion 25765185
nsv1073086 CNV deletion 25765185
nsv1119650 CNV deletion 24896259
nsv1129016 CNV deletion 24896259
nsv1133517 CNV deletion 24896259
nsv1160691 CNV deletion 26073780
nsv428381 CNV gain+loss 18775914
nsv469773 CNV gain 16826518
nsv509784 CNV insertion 20534489
nsv512626 CNV loss 21212237
nsv586695 CNV loss 21841781
nsv586696 CNV gain 21841781
nsv586703 CNV loss 21841781
nsv821524 CNV deletion 20802225
nsv953309 CNV deletion 24416366
nsv9830 CNV gain 18304495

Variation tolerance for ZNF512B Gene

Residual Variation Intolerance Score: 7.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.80; 73.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF512B Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF512B Gene

Disorders for ZNF512B Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZNF512B Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal dominant 40
  • dfna40
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZNF512B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ZNF512B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF512B Gene

Publications for ZNF512B Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ZNF512B Gene

Sources for ZNF512B Gene