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

ZNF630 Gene

protein-coding   GIFtS: 43
GCID: GC0XM047842

zinc finger protein 630

  Search for ZNF630
in our new
 Human Malady Compendium 
Biological research products
for ZNF630
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Zinc Finger Protein 6301 2
DJ54B20.21
BC0373161
FLJ205731
MGC1383441
DJ54B20.2 (Novel KRAB Box Containing C2H2 Type Zinc Finger Protein)2

External Ids:    HGNC: 288551   Entrez Gene: 572322   Ensembl: ENSG000002219947   OMIM: 3008195   UniProtKB: Q2M2183   

Export aliases for ZNF630 gene to outside databases

Previous GC identifers: GC0XM046964 GC0XM047673 GC0XM047802 GC0XM045632


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

Entrez Gene summary for ZNF630:
This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 13
Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription
factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked mental
retardation. (provided by RefSeq, Jul 2010)

UniProtKB/Swiss-Prot: ZN630_HUMAN, Q2M218
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_079573.4  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ZNF630
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZNF630 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZNF630

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF630


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

Entrez Gene cytogenetic band: Xp11.3-p11.1   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.3-p11.1

ZNF630 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF630 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM047842:  view genomic region     (about GC identifiers)

Start:
47,842,756 bp from pter      End:
47,931,025 bp from pter
Size:
88,270 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ZN630_HUMAN, Q2M218 (See protein sequence)
Recommended Name: Zinc finger protein 630  
Size: 657 amino acids; 76094 Da
Subcellular location: Nucleus (Probable)
Secondary accessions: Q5H8Z5

Explore the universe of human proteins at neXtProt for ZNF630: NX_Q2M218

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q2M218

  • ZNF630 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001032824.2  NP_001177184.1  

    ENSEMBL proteins: 
     ENSP00000400030   ENSP00000354683   ENSP00000386393   ENSP00000407278   ENSP00000408054  
     ENSP00000393163  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--


    ZNF630 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ZNF630 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR001909 Krueppel-associated_box
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q2M218

    ProtoNet protein and cluster: Q2M218

    1 Blocks protein family: IPB001909 KRAB box

    UniProtKB/Swiss-Prot: ZN630_HUMAN, Q2M218
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 14 C2H2-type zinc fingers
    Similarity: Contains 1 KRAB domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ZN630_HUMAN, Q2M218
    Function: May be involved in transcriptional regulation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0008270zinc ion binding IEA--


    ZNF630 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZNF630

    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--


    ZNF630 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 ZNF630
    Search CenterWatch for drugs/clinical trials and news about ZNF630 / ZN630 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for ZNF630 gene (2 alternative transcripts): 
    NM_001037735.2  NM_001190255.1  

    Unigene Cluster for ZNF630:

    Zinc finger protein 630
    Hs.650883  [show with all ESTs]
    Unigene Representative Sequence: NR_033730
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000428463(uc010nhz.1) ENST00000276054(uc022bvs.1) ENST00000409324(uc004div.4)
    ENST00000428686 ENST00000421903 ENST00000442455(uc022bvr.1)

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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ZNF630:
    hsa-miR-188-3p hsa-miR-139-5p
    SwitchGear 3'UTR luciferase reporter plasmidZNF630 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ZNF630
    OriGene shRNA RFP: ZNF630
    OriGene siRNA: ZNF630
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ZNF630
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ZNF630 (see all 3)
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZNF630

    Additional cDNA sequence: 

    AK000580.1 AK307979.1 BC037316.1 BC112139.1 NR_033730.1 

    3 DOTS entries:

    DT.95291766  DT.121299545  DT.100781947 

    7 AceView cDNA sequences:

    BG436394 BX419623 BC037316 BX116378 AK000580 R67493 BI545533 

    GeneLoc Exon Structure


    (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

    ZNF630 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTACCCTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ZNF630 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZNF630

    SOURCE GeneReport for Unigene cluster: Hs.650883
        SABiosciences Custom PCR Arrays for ZNF630
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF630

    (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 ZNF630 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    --
    (see all 8)
    --
    39(a)
    34(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    Un(41687425-41690654)
    Un(54164034-54170097)


    ENSEMBL Gene Tree for ZNF630 (if available)
    TreeFam Gene Tree for ZNF630 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZNF630 gene
    ZNF1752  ZNF6742  LOC1002875152  ZNF6142  ZNF4322  ZNF6132  ZNF262  ZNF3502  
    ZNF812  ZNF6492  ZNF6052  ZNF5772  ZNF842  ZFP372  ZNF4842  ENSG000002296312  
    ZNF1822  ZNF412  ZNF2682  LOC1009964642  ZNF6152  ZNF3002  
    18/540 SIMAP similar genes for ZNF630 using alignment to 6 protein entries:     ZN630_HUMAN (see all proteins) (see all similar genes):
    kr-znf3    POM121C    ZNF818P    ZNF78L1    ZFP90    ZNF81
    HZF36    MGC12518    ZFP41    zf30    ZNF300    ZNF3
    ZNF300P1    ZNF283    DKFZp666M039    KRBOX4    ZFS-5    ZNF213

    ZNF630 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ZNF630
    PGOHUM00000235424


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/301 NCBI SNPs in ZNF630 are shown (see all 301    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1125305411,2
    C,--47917107(+) GAGTCG/CATATT 3 -- int11Minor allele frequency- C:0.50WA 2
    rs5032551,2
    C,A,H,--47917211(-) CACTTC/TGGCTT 3 -- int15Minor allele frequency- T:0.12NA WA CSA 8
    rs1865617531,2
    --47917345(+) GAGGGC/TGAGGC 3 -- int10--------
    rs1401464451,2
    --47917518(+) ACAAAC/GAGATA 3 -- int10--------
    rs1895028241,2
    --47917546(+) CATGCA/CCAAAT 3 -- int10--------
    rs1822081791,2
    C,--47917602(+) CCAAAA/GTAGTG 3 -- ut31 nc-transcript-variant0--------
    rs1868565681,2
    --47917610(+) GTGCTA/GATTCT 3 -- ut31 nc-transcript-variant0--------
    rs2005332371,2
    --47917685(+) TTGTG-/ATGGGTT 3 -- nc-transcript-variantut310--------
    rs59056481,2
    C,F,A,H,--47917686(+) TTGTGA/GGGTTG 3 -- ut31 nc-transcript-variant17Minor allele frequency- G:0.29NS EA WA NA CSA 1975
    rs59056491,2
    C,F,A,H,--47917687(+) TGTGGT/GGTTGA 3 -- nc-transcript-variantut3117Minor allele frequency- G:0.29NS EA WA NA CSA 1977

    HapMap Linkage Disequilibrium report for ZNF630 (47842756 - 47931025 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 35 variations for ZNF630
         15/35 CNVs (see all 35): 83493 34416 4149 67975 0822 83492 8912 53004 53002 37578 8305 1847 83491 37638 53006
    Locus Specific Mutation Databases (LSDB): ZNF630

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ZNF630 for disorders           About MalaCards

    ZNF630 for disorders           About GeneDecksing

    OMIM gene information: 300819    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: ZNF630 (1 document)

    Export disorders for ZNF630 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 ZNF630 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ZNF630)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Recurrent deletion of ZNF630 at Xp11.23 is not associ ated with mental retardation. (PubMed id 20186789)1 Lugtenberg D....de Brouwer A.P. (2010)
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57232 HGNC: 28855 AceView: ZNF630 Ensembl:ENSG00000221994 euGenes: HUgn57232
    ECgene: ZNF630 H-InvDB: ZNF630

    (According to HUGE)
    About This Section
      --

    (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 ZNF630 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 ZNF630 gene:
    Search GeneIP for patents involving ZNF630

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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