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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ZNF512B Gene

protein-coding   GIFtS: 53
GCID: GC20M062588

Zinc Finger Protein 512B

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Zinc Finger Protein 512B1 2
GM6322
KIAA11963

External Ids:    HGNC: 292121   Entrez Gene: 574732   Ensembl: ENSG000001967007   UniProtKB: Q96KM63   

Export aliases for ZNF512B gene to outside databases

Previous GC identifers: GC20M062062 GC20M059323


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ZNF512B Gene: 
ZNF512B (zinc finger protein 512B) is a protein-coding gene. Diseases associated with ZNF512B include lateral sclerosis, and amyotrophic lateral sclerosis. GO annotations related to this gene include DNA binding and zinc ion binding. An important paralog of this gene is ZNF512.

UniProtKB/Swiss-Prot: Z512B_HUMAN, Q96KM6
Function: May be involved in transcriptional regulation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011333.6  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZNF512B gene promoter:
         STAT1   STAT1beta   Lmo2   LUN-1   HNF-4alpha2   Nkx2-5   STAT1alpha   HNF-4alpha1   HFH-1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZNF512B promoter sequence
   Search SABiosciences Chromatin IP Primers for ZNF512B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF512B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.33   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.33

ZNF512B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF512B gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M062588:  view genomic region     (about GC identifiers)

Start:
62,588,055 bp from pter      End:
62,680,113 bp from pter
Size:
92,059 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: Z512B_HUMAN, Q96KM6 (See protein sequence)
Recommended Name: Zinc finger protein 512B  
Size: 892 amino acids; 97264 Da
Subcellular location: Nucleus (Probable)
1 PDB 3D structure from and Proteopedia for ZNF512B:
2GQJ (3D)    
Secondary accessions: Q08AK9 Q9ULM4

Explore the universe of human proteins at neXtProt for ZNF512B: NX_Q96KM6

Explore proteomics data for ZNF512B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96KM6

  • ZNF512B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZNF512B Protein Expression
    REFSEQ proteins: NP_065764.1  
    ENSEMBL proteins: 
     ENSP00000358904   ENSP00000393795   ENSP00000217130  

    Human Recombinant Protein Products for ZNF512B: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for ZNF512B 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    ZNF512B for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q96KM6

    ProtoNet protein and cluster: Q96KM6

    UniProtKB/Swiss-Prot: Z512B_HUMAN, Q96KM6
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 7 C2H2-type zinc fingers


    ZNF512B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: Z512B_HUMAN, Q96KM6
    Function: May be involved in transcriptional regulation

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0008270zinc ion binding ----
    GO:0046872metal ion binding IEA--
         
    ZNF512B for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ZNF512B:
     Decreased Tat-dependent transc 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ZNF512B 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZNF512B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/78 Interacting proteins for ZNF512B (Q96KM62, 3 ENSP000002171304) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PAPPA2Q9BXP82, 3MINT-60821 MINT-60813 I2D: score=3 
    DROSHAQ9NRR42, 3, ENSP000003398454MINT-60789 I2D: score=2 STRING: ENSP00000339845
    KDM3BQ7LBC62, 3, ENSP000003265634MINT-60808 I2D: score=2 STRING: ENSP00000326563
    KLF10Q131182, 3, ENSP000002854074MINT-60805 I2D: score=2 STRING: ENSP00000285407
    APLP2Q064812, 3MINT-60793 I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--

    ZNF512B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ZNF512B (Z512B)

    Search CenterWatch for drugs/clinical trials and news about ZNF512B / Z512B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ZNF512B gene: 
    NM_020713.2  

    Unigene Cluster for ZNF512B:

    Zinc finger protein 512B
    Hs.740578  [show with all ESTs]
    Unigene Representative Sequence: NM_020713
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369888(uc002yhl.1) ENST00000450537 ENST00000217130
    miRNA
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    hsa-miR-520e hsa-miR-146a hsa-miR-106a hsa-miR-519a hsa-miR-409-5p hsa-miR-93 hsa-miR-4325 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidZNF512B 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB033022.1 AL834525.1 BC125128.1 BC125129.1 

    7 DOTS entries:

    DT.201981  DT.75106677  DT.120803896  DT.120803970  DT.95168292  DT.97810724  DT.75194768 

    24/161 AceView cDNA sequences (see all 161):

    BX344567 AW139581 BM761742 BM126835 NM_020713 AA886921 BQ102387 BM712657 
    AI362088 BM846832 NM_080621 BC067362 AW628097 AI866764 AA085380 AI567790 
    BM127148 BE858902 BM126579 BI792939 AB033022 BM068760 CA848672 BI793221 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ZNF512B    About this scheme

    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:                                                                                                                              


    ECgene alternative splicing isoforms for ZNF512B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ZNF512B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGTCCGCA
    ZNF512B Expression
    About this image


    See ZNF512B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZNF512B

    SOURCE GeneReport for Unigene cluster: Hs.740578
        SABiosciences Custom PCR Arrays for ZNF512B
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ZNF512B gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Znf512b1 , 5 zinc finger protein 512B1, 5 85.45(n)1
    88.36(a)1
      2 (103.67 cM)5
    2694011  NM_001164597.11  NP_001158069.11 
     1815821035 
    chicken
    (Gallus gallus)
    Aves ZNF512B1 zinc finger protein 512B 69.6(n)
    69.79(a)
      419255  NM_001037830.1  NP_001032919.1 
    lizard
    (Anolis carolinensis)
    Reptilia ZNF512B6
    Uncharacterized protein
    57(a)
    1 ↔ 1
    4(155844360-155916991)
    zebrafish
    (Danio rerio)
    Actinopterygii ZNF512B6
    zinc finger protein 512B
    44(a)
    1 ↔ 1
    23(13487349-13628842)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZNF512B gene
    ZNF5122  
    1 SIMAP similar gene for ZNF512B using alignment to 1 protein entry:     Z512B_HUMAN:
    ZNF512

    ZNF512B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/481 SNPs in ZNF512B are shown (see all 481)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs61222211,2
    C--62589870(+) CCTCAG/TCCCAC 1 -- ut31 ese32Minor allele frequency- T:0.00NA 4
    rs1498415141,2
    C--62589917(+) TACCCC/GCTCTG 1 -- ut310--------
    rs1448948251,2
    C--62590078(+) AAAGAC/TAGCTC 1 -- ut310--------
    rs1490454321,2
    C--62590185(+) GGGCAA/GGTTAA 1 -- ut310--------
    rs8173211,2
    C,F,A,H--62590334(+) GGGCCC/TCAGCA 1 -- ut31 ese314Minor allele frequency- T:0.05EA NA MN NS CSA WA 1650
    rs1430229901,2
    --62590440(+) CTCCAA/GGGGCC 1 -- ut310--------
    rs1855882201,2
    --62590658(+) GCAAGA/GGGACC 1 -- ut310--------
    rs1904454791,2
    --62590826(+) CTCACC/TAGCCC 1 -- ut310--------
    rs1815948551,2
    --62590849(+) CACCAA/GGGATG 1 -- ut310--------
    rs801982011,2
    F--62590891(+) CGGCAG/AGGCCT 1 -- ut311Minor allele frequency- A:0.01EA 120

    HapMap Linkage Disequilibrium report for ZNF512B (62588055 - 62680113 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for ZNF512B (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv821524CNV Deletion20802225
    esv2122070CNV Deletion18987734
    esv2665934CNV Deletion23128226
    esv2639361CNV Deletion19546169
    nsv509784CNV Insertion20534489
    nsv913250CNV Loss21882294
    nsv512626CNV Loss21212237
    dgv4653n71CNV Loss21882294
    nsv913270CNV Loss21882294
    dgv4657n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): ZNF512B
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    3 diseases for ZNF512B:    About MalaCards
    lateral sclerosis    amyotrophic lateral sclerosis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for ZNF512B:
    Amyotrophic lateral sclerosis

    ZNF512B for disorders           About GeneDecksing

    Genetic Association Database (GAD): ZNF512B
    Human Genome Epidemiology (HuGE) Navigator: ZNF512B (1 document)

    Export disorders for ZNF512B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ZNF512B gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with ZNF512B)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 10574462)1, 2, 3 Nagase T.... Ohara O. (1999)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    5. ZNF512B gene is a prognostic factor in patients with a myotrophic lateral sclerosis. (PubMed id 23168171)1 Tetsuka S....Nakano I. (2013)
    6. The functional interactome landscape of the human hist one deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (2013)
    7. Identification of proteins associated with ligand-acti vated estrogen receptor a in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PubMed id 21182205)1 Tarallo R....Weisz A. (2011)
    8. A functional variant in ZNF512B is associated with su sceptibility to amyotrophic lateral sclerosis in Japanese. (PubMed id 21665992)1 Iida A....Ikegawa S. (2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. Genetic associations of variants in genes encoding HI V-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57473 HGNC: 29212 AceView: KIAA1196andSAMD10 Ensembl:ENSG00000196700 euGenes: HUgn57473
    ECgene: ZNF512B H-InvDB: ZNF512B

    (According to HUGE)
    About This Section
    HUGE: KIAA1196

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ZNF512B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ZNF512B gene:
    Search GeneIP for patents involving ZNF512B

    GeneCards and IP:
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