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Aliases for ZNF512 Gene

Aliases for ZNF512 Gene

  • Zinc Finger Protein 512 2 3 5
  • KIAA1805 4

External Ids for ZNF512 Gene

Previous GeneCards Identifiers for ZNF512 Gene

  • GC02P027780
  • GC02P027717
  • GC02P027659
  • GC02P027805
  • GC02P027547

Summaries for ZNF512 Gene

Entrez Gene Summary for ZNF512 Gene

  • This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]

GeneCards Summary for ZNF512 Gene

ZNF512 (Zinc Finger Protein 512) is a Protein Coding gene. An important paralog of this gene is ZNF512B.

UniProtKB/Swiss-Prot for ZNF512 Gene

  • May be involved in transcriptional regulation.

Additional gene information for ZNF512 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF512 Gene

Genomics for ZNF512 Gene

Regulatory Elements for ZNF512 Gene

Enhancers for ZNF512 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
GH02H027719 1.9 FANTOM5 Ensembl ENCODE dbSUPER 49.6 +137.8 137779 2 SIN3A GLI4 BRCA1 ZNF2 ZNF416 ATF7 FOS SP3 TSHZ1 ZNF623 SUPT7L CAD ZNF512 EIF2B4 GPN1 GTF3C2 ZNF513 AGBL5 GTF3C2-AS1 LOC105374363
GH02H027662 1.2 ENCODE 74.8 +80.7 80677 2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A NFYC IFT172 ZNF512 SUPT7L CAD EIF2B4 GPN1 GTF3C2 ENSG00000272148 NRBP1 SNX17
GH02H027049 1.2 ENCODE 55.3 -531.9 -531901 3 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A ZNF512 CAD EIF2B4 NRBP1 IFT172 SUPT7L GPN1 KHK LOC105374363 ATRAID
GH02H027407 1.4 FANTOM5 ENCODE 29.6 -173.8 -173787 2 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SNX17 ZNF512 SUPT7L CAD IFT172 GPN1 KRTCAP3 C2orf16 PPM1G FTH1P3
GH02H028389 1.8 FANTOM5 ENCODE dbSUPER 18 +812.4 812391 12 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 SSRP1 ZNF610 GLIS1 RCOR2 GPN1 SUPT7L NRBP1 FOSL2 ZNF512 PLB1 WDR43 PPP1CB IFT172 ENSG00000270210
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNF512 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF512 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114438 332 1800 HDGF MLX ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ZNF143 FOS

Genomic Location for ZNF512 Gene

Chromosome:
2
Start:
27,582,969 bp from pter
End:
27,623,215 bp from pter
Size:
40,247 bases
Orientation:
Plus strand

Genomic View for ZNF512 Gene

Genes around ZNF512 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF512 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF512 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF512 Gene

Proteins for ZNF512 Gene

  • Protein details for ZNF512 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96ME7-ZN512_HUMAN
    Recommended name:
    Zinc finger protein 512
    Protein Accession:
    Q96ME7
    Secondary Accessions:
    • B4DSM5
    • Q53RZ7
    • Q86XK6
    • Q96JM0

    Protein attributes for ZNF512 Gene

    Size:
    567 amino acids
    Molecular mass:
    64682 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ZNF512 Gene

    Alternative splice isoforms for ZNF512 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF512 Gene

Post-translational modifications for ZNF512 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF512 Gene

Domains & Families for ZNF512 Gene

Gene Families for ZNF512 Gene

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

Protein Domains for ZNF512 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96ME7

UniProtKB/Swiss-Prot:

ZN512_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 ZNF512: view

Function for ZNF512 Gene

Molecular function for ZNF512 Gene

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

Phenotypes From GWAS Catalog for ZNF512 Gene

Gene Ontology (GO) - Molecular Function for ZNF512 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF512: view
genes like me logo Genes that share phenotypes with ZNF512: view

Animal Model Products

CRISPR Products

miRNA for ZNF512 Gene

miRTarBase miRNAs that target ZNF512

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZNF512
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF512 Gene

Localization for ZNF512 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF512 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 ZNF512 gene
Compartment Confidence
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF512 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ZNF512: view

Pathways & Interactions for ZNF512 Gene

SuperPathways for ZNF512 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF512 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 ZNF512: view

No data available for Pathways by source and SIGNOR curated interactions for ZNF512 Gene

Drugs & Compounds for ZNF512 Gene

No Compound Related Data Available

Transcripts for ZNF512 Gene

Unigene Clusters for ZNF512 Gene

Zinc finger protein 512:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZNF512
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF512 Gene

No ASD Table

Relevant External Links for ZNF512 Gene

GeneLoc Exon Structure for
ZNF512
ECgene alternative splicing isoforms for
ZNF512

Expression for ZNF512 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNF512 Gene

Protein differential expression in normal tissues from HIPED for ZNF512 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.0), Adrenal (11.4), CD8 Tcells (9.6), and Retina (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZNF512 Gene



Protein tissue co-expression partners for ZNF512 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZNF512 Gene:

ZNF512

SOURCE GeneReport for Unigene cluster for ZNF512 Gene:

Hs.529178

Evidence on tissue expression from TISSUES for ZNF512 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with ZNF512: 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 ZNF512 Gene

Orthologs for ZNF512 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF512 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF512 33 34
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 95 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
ZNF512 33
  • 92.82 (n)
cow
(Bos Taurus)
Mammalia ZNF512 33 34
  • 92.59 (n)
mouse
(Mus musculus)
Mammalia Zfp512 33 16 34
  • 86.05 (n)
rat
(Rattus norvegicus)
Mammalia Zfp512 33
  • 84.44 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF512 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZNF512 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZNF512 33 34
  • 62.41 (n)
lizard
(Anolis carolinensis)
Reptilia ZNF512 34
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii znf512 34
  • 37 (a)
OneToOne
Species where no ortholog for ZNF512 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 ZNF512 Gene

ENSEMBL:
Gene Tree for ZNF512 (if available)
TreeFam:
Gene Tree for ZNF512 (if available)

Paralogs for ZNF512 Gene

Paralogs for ZNF512 Gene

(2) SIMAP similar genes for ZNF512 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ZNF512: view

Variants for ZNF512 Gene

Sequence variations from dbSNP and Humsavar for ZNF512 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000131716 -- 27,585,386(+) TTCTC(A/G)GTATG intron-variant
rs1000218101 -- 27,620,191(+) AATAA(-/ATT)ATTGA intron-variant
rs1000298168 -- 27,619,410(+) AAAAA(-/T)GGTAA intron-variant
rs1000315913 -- 27,617,738(+) TTTTC(C/T)GTGAA intron-variant
rs1000410750 -- 27,617,067(+) AGGCA(A/C)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ZNF512 Gene

Variant ID Type Subtype PubMed ID
esv2677128 CNV deletion 23128226
esv3554156 CNV deletion 23714750
esv3590143 CNV loss 21293372
nsv817684 CNV gain 17921354

Variation tolerance for ZNF512 Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF512 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF512

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF512 Gene

Disorders for ZNF512 Gene

Relevant External Links for ZNF512

Genetic Association Database (GAD)
ZNF512
Human Genome Epidemiology (HuGE) Navigator
ZNF512
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF512

No disorders were found for ZNF512 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZNF512 Gene

Publications for ZNF512 Gene

  1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60
  2. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A … EUROSPAN consortium (PLoS genetics 2012) 3 45 60
  3. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. (PMID: 21386085) Kraja AT … Borecki IB (Diabetes 2011) 3 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 60

Products for ZNF512 Gene

Sources for ZNF512 Gene

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