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Aliases for ZNF512B Gene

Aliases for ZNF512B Gene

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

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 Amyotrophic Lateral Sclerosis 1. An important paralog of this gene is ZNF512.

UniProtKB/Swiss-Prot for ZNF512B Gene

  • May be involved in transcriptional regulation.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF512B Gene

Genomics for ZNF512B Gene

Regulatory Elements for ZNF512B Gene

Enhancers for ZNF512B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G063845 1.6 Ensembl ENCODE dbSUPER 26.4 +122.5 122544 3.3 HDGF FOXA2 PKNOX1 ARNT AGO1 ARID4B SIN3A YBX1 FEZF1 DMAP1 TNFRSF6B PCMTD2 MIR647 RTEL1 ZNF512B UCKL1 ZBTB46-AS1 DNAJC5 PRPF6 C20orf204
GH20G064062 1.7 Ensembl ENCODE dbSUPER 13.6 -95.0 -94977 5.3 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC RGS19 RTEL1 TNFRSF6B ARFGAP1 MIR647 ZNF512B PRPF6 UCKL1 TCEA2 C20orf204
GH20G064052 2 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -85.8 -85766 5.7 HDGF FOXA2 PKNOX1 MLX ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 SOX18 RGS19 TCEA2 PRPF6 OPRL1 SAMD10 ZNF512B ENSG00000237371 C20orf204 UCKL1
GH20G063455 1.1 dbSUPER 16.5 +512.8 512766 2.2 HDGF PKNOX1 FOXA2 CREB3L1 ZBTB7B ZNF207 FOS SP3 JUNB ZHX2 RTEL1 TNFRSF6B MIR647 EEF1A2 PCMTD2 ZNF512B ARFGAP1 LOC105372725 PRPF6 ZBTB46
GH20G063172 1.6 FANTOM5 Ensembl ENCODE 10.2 +793.2 793241 8.3 SIN3A ZNF48 ZNF121 GLIS2 ZNF143 SP3 MXD4 ZNF488 MIER2 REST BIRC7 CHRNA4 ENSG00000231977 RTEL1 TNFRSF6B KCNQ2 ZNF512B ZBTB46 NKAIN4 COL20A1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNF512B on UCSC Golden Path with GeneCards custom track

Promoters for ZNF512B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000139993 170 1001 AGO1 ARID4B SIN3A DMAP1 BRCA1 ZNF48 YY1 TCF12 SLC30A9 FOS

Genomic Location for ZNF512B Gene

Chromosome:
20
Start:
63,956,702 bp from pter
End:
63,969,870 bp from pter
Size:
13,169 bases
Orientation:
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:
    Q96KM6-Z512B_HUMAN
    Recommended name:
    Zinc finger protein 512B
    Protein Accession:
    Q96KM6
    Secondary Accessions:
    • Q08AK9
    • Q9ULM4

    Protein attributes for ZNF512B Gene

    Size:
    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

Other Protein References for ZNF512B Gene

No data available for DME Specific Peptides for ZNF512B Gene

Domains & Families for ZNF512B Gene

Protein Domains for ZNF512B Gene

Suggested Antigen Peptide Sequences for ZNF512B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96KM6

UniProtKB/Swiss-Prot:

Z512B_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 ZNF512B: view

No data available for Gene Families for ZNF512B Gene

Function for ZNF512B Gene

Molecular function for ZNF512B Gene

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

Gene Ontology (GO) - Molecular Function for ZNF512B Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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

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 ZNF512B gene
Compartment Confidence
nucleus 5
extracellular 1

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

SuperPathways for ZNF512B Gene

No Data Available

Interacting Proteins for ZNF512B Gene

Gene Ontology (GO) - Biological Process for ZNF512B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ZNF512B: view

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

Unigene Clusters for ZNF512B Gene

Zinc finger protein 512B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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: -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ZNF512B Gene

GeneLoc Exon Structure for
ZNF512B
ECgene alternative splicing isoforms for
ZNF512B

Expression for ZNF512B Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of ZNF512B Gene:

ZNF512B

SOURCE GeneReport for Unigene cluster for ZNF512B Gene:

Hs.740578

Evidence on tissue expression from TISSUES for ZNF512B Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with ZNF512B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
chimpanzee
(Pan troglodytes)
Mammalia ZNF512B 34 35
  • 97.97 (n)
dog
(Canis familiaris)
Mammalia ZNF512B 34 35
  • 86.73 (n)
rat
(Rattus norvegicus)
Mammalia Zfp512b 34
  • 85.89 (n)
mouse
(Mus musculus)
Mammalia Znf512b 34 35
  • 85.45 (n)
Zfp512b 16
cow
(Bos Taurus)
Mammalia ZNF512B 34 35
  • 85.22 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF512B 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZNF512B 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves UCKL1 34 35
  • 69.65 (n)
-- 35
  • 50 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia ZNF512B 35
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-256k13.2 34
  • 62.54 (n)
ZNF512B 35
  • 45 (a)
OneToOne
Species where no ortholog for ZNF512B 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZNF512B Gene

ENSEMBL:
Gene Tree for ZNF512B (if available)
TreeFam:
Gene Tree for ZNF512B (if available)

Paralogs for ZNF512B Gene

Paralogs for ZNF512B Gene

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

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

Variants for ZNF512B Gene

Sequence variations from dbSNP and Humsavar for ZNF512B Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000000342 -- 63,966,526(+) GACCG(A/T)GACTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1000896185 -- 63,960,031(+) CTTTC(A/G)GCCCC nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs1001177270 -- 63,970,252(+) TCCTG(A/G)CCCGC upstream-variant-2KB
rs1001227639 -- 63,963,355(+) GGCAG(C/T)GCAGC nc-transcript-variant, reference, missense
rs1001325900 -- 63,971,502(+) CTCCG(C/T)CTCCT upstream-variant-2KB

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)

Relevant External Links for ZNF512B Gene

Human Gene Mutation Database (HGMD)
ZNF512B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF512B

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 and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ZNF512B

Genetic Association Database (GAD)
ZNF512B
Human Genome Epidemiology (HuGE) Navigator
ZNF512B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF512B
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 Res. 1999) 2 3 4 64
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  5. Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population. (PMID: 27612022) Madadi F. … Darvish H. (Genet Test Mol Biomarkers 2016) 3 64

Products for ZNF512B Gene

Sources for ZNF512B Gene

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