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ZNF630 Gene

protein-coding   GIFtS: 44
GCID: GC0XM047842

Zinc Finger Protein 630
  See related disease
at
MalaCards
 

Aliases
for ZNF630 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Zinc Finger Protein 6301 2
dJ54B20.22
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


Summaries
for ZNF630 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ZNF630 Gene:
This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13
Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in
nonsyndromic X-linked mental retardation. Alternative splicing results in multiple transcript variants. (provided
by RefSeq, Aug 2013)

GeneCards Summary for ZNF630 Gene:
ZNF630 (zinc finger protein 630) is a protein-coding gene. Diseases associated with ZNF630 include mental retardation. An important paralog of this gene is ZNF334.

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




Genomic Views
for ZNF630 gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_079573.5  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ZNF630
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ZNF630 promoter sequence
   Search Chromatin IP Primers for ZNF630

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

Proteins
for ZNF630 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ZN630_HUMAN, Q2M218 (See protein sequence)
Recommended Name: Zinc finger protein 630  
Size: 657 amino acids; 76094 Da
Secondary accessions: F8WAG4 Q5H8Z5
Alternative splicing: 2 isoforms:  Q2M218-1   Q2M218-2   (No experimental confirmation available)

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

Explore proteomics data for ZNF630 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See ZNF630 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001032824.2  NP_001177184.1  NP_001269130.1  NP_001269131.1  

    ENSEMBL proteins: 
     ENSP00000400030   ENSP00000386393   ENSP00000354683   ENSP00000407278   ENSP00000408054  
     ENSP00000393163  

    ZNF630 Human Recombinant Protein Products:

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    ZNF630 Antibody Products:

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    ZNF630 Assay Products:

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    Cloud-Clone Corp. CLIAs for ZNF630

    Domains /
    Families
    for ZNF630 gene

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

    TryGeneCards Plus    		 HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type

    4 InterPro protein domains:
     IPR001909 Krueppel-associated_box
     IPR015880 Znf_C2H2-like
     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 domain: 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


    ZNF630 for domains           About GeneDecksing


    Function
    for ZNF630 gene

    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IBA--
    GO:0046872metal ion binding IEA--
         
    ZNF630 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ZNF630
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    miRNA
    Products:            		Block miRNA regulation of human, mouse, rat ZNF630 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ZNF630:
    hsa-miR-188-3p hsa-miR-139-5p
    SwitchGear 3'UTR luciferase reporter plasmid: ZNF630 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ZNF630

    Gene Editing
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    Clone
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    In Situ Assay
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    Localization
    for ZNF630 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ZN630_HUMAN, Q2M218: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    ZNF630 for ontologies           About GeneDecksing


    Pathways & Interactions
    for ZNF630 gene

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZNF630
    Interactions:

        Search GeneGlobe Interaction Network for ZNF630

    Gene Ontology (GO): 2 biological process terms:    About this table

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

    ZNF630 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ZNF630 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ZNF630 (ZN630)



    Transcripts
    for ZNF630 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ZNF630 gene (4 alternative transcripts): 
    NM_001037735.3  NM_001190255.2  NM_001282201.1  NM_001282202.1  

    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) ENST00000409324(uc004div.4) ENST00000276054(uc022bvs.1)
    ENST00000428686 ENST00000421903 ENST00000442455(uc022bvr.1)
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat ZNF630 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ZNF630:
    hsa-miR-188-3p hsa-miR-139-5p
    SwitchGear 3'UTR luciferase reporter plasmid: ZNF630 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ZNF630
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    GenScript: all cDNA clones in your preferred vector (see all 2): ZNF630 (NM_001037735)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZNF630
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ZNF630
      QuantiTect SYBR Green Assays in human, mouse, rat ZNF630
      QuantiFast Probe-based Assays in human, mouse, rat ZNF630

    Additional mRNA 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:

    BX419623 BX116378 BC037316 BG436394 AK000580 R67493 BI545533 

    GeneLoc Exon Structure


    Expression
    for ZNF630 gene

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ZNF630 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTACCCTTC
    ZNF630 Expression
    About this image

    ZNF630 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    ZNF630 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.650883
        Custom PCR Arrays for ZNF630
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ZNF630
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF630

    Orthologs
    for ZNF630 gene

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ZNF630 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves --
    		 Uncharacterized protein
    		 35(a)
    		 1 → many
    		 2(350396-358052)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 Uncharacterized protein
    		 44(a)
    		 many ↔ many
    		 GL343626.1(294595-296194)
    zebrafish
    (Danio rerio)    		 Actinopterygii si:dkey-111k8.26
    		 si:dkey-111k8.2
    		 35(a)
    		 many ↔ many
    		 3(61980321-61986014) ENSDARG00000098021
            Species with no ortholog for ZNF630

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

    Paralogs
    for ZNF630 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ZNF630 gene
    ZNF3342  ZNF4202  ZNF780A2  ZNF6652  ZNF72  ZNF232  ZNF33A2  RBAK2  
    ZNF7172  ZNF302  ZNF5732  ZNF33B2  ZNF5402  ZNF2512  ZNF6052  ZNF842  
    ZNF1892  ZNF5712  ZNF3372  ZNF2832  ZNF4042  ZNF1352  ZNF4842  ZNF122  
    ZNF3452  ZNF1842  ZNF6992  ZNF412  ZNF6152  ZNF4702  ZNF5692  
    Selected SIMAP similar genes for ZNF630 using alignment to 5 protein entries:     ZN630_HUMAN (see all proteins) (see all similar genes):
    POM121C    kr-znf3    ZFP90    ZNF625-ZNF20    ZNF818P    ZNF78L1
    FIK    ZNF81    MGC12518    ZNF300P1    ZNF3    ZNF300
    ZNF283    HZF36    ZFP41    ZNF350    zf30    ZNF250

    ZNF630 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ZNF630
    PGOHUM00000235424


    Genomic Variants
    for ZNF630 gene

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ZNF630 (see all 360)    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,F--47836599(+) GAGTCG/CATATT 3 -- int11Minor allele frequency- C:0.50WA 2
    rs5032551,2
    		C,A,H--47836703(-) CACTTC/TGGCTT 3 -- int15Minor allele frequency- T:0.12NA WA CSA 8
    rs1865617531,2
    		C--47836837(+) GAGGGC/TGAGGC 3 -- int10--------
    rs1401464451,2
    		--47837010(+) ACAAAC/GAGATA 3 -- int10--------
    rs1895028241,2
    		--47837038(+) CATGCA/CCAAAT 3 -- int10--------
    rs1822081791,2
    		C--47837094(+) CCAAAA/GTAGTG 3 -- ut31 nc-transcript-variant0--------
    rs1868565681,2
    		--47837102(+) GTGCTA/GATTCT 3 -- ut31 nc-transcript-variant0--------
    rs2005332371,2
    		--47837177(+) TTGTG-/ATGGGTT 3 -- ut31 nc-transcript-variant0--------
    rs59056481,2
    		C,F,A,H--47837178(+) TTGTGA/GGGTTG 3 -- ut31 nc-transcript-variant17Minor allele frequency- G:0.29NS EA WA NA CSA 1975
    rs59056491,2
    		C,F,A,H--47837179(+) TGTGGT/GGTTGA 3 -- ut31 nc-transcript-variant17Minor allele frequency- G:0.29NS EA WA NA CSA 1977

    HapMap Linkage Disequilibrium report for ZNF630 (47842756 - 47931025 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ZNF630 (see all 25):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv438131CNV Loss16468122
    nsv470351CNV Loss18288195
    nsv519165CNV Loss19592680
    nsv6890CNV Loss18451855
    dgv268e55CNV Loss17911159
    nsv521227CNV Gain19592680
    nsv522886CNV Gain19592680
    dgv37n14CNV Gain18776910
    nsv9940CNV Gain18304495
    nsv471601CNV Gain15918152

    Locus Specific Mutation Databases (LSDB): ZNF630

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ZNF630
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    Disorders / Diseases
    for ZNF630 gene

    (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.)
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    OMIM gene information: 300819    OMIM disorders: --

    1 disease for ZNF630:    
    About MalaCards
    mental retardation


    ZNF630 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ZNF630
    Human Genome Epidemiology (HuGE) Navigator: ZNF630 (1 document)

    Export disorders for ZNF630 gene to outside databases

    Publications
    for ZNF630 gene

    (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)
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    PubMed articles for ZNF630 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ZNF630)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. (PubMed id 20186789)1, 4 Lugtenberg D....de Brouwer A.P. (Am. J. Med. Genet. A 2010)
    2. 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. (Genome Res. 2004)
    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. (Genome Res. 2006)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    External Searches for ZNF630 gene

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

    Genome Databases showing ZNF630 gene

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

    Other Databases showing ZNF630 gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing ZNF630 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ZNF630 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ZNF630 gene

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    TryGeneCards Plus    		Patent Information for ZNF630 gene:
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