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ZNF423 Gene

protein-coding   GIFtS: 53
GCID: GC16M049524

Zinc Finger Protein 423

  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)
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Aliases
Zinc Finger Protein 4231 2     ZFP4232 5
NPHP142 3 5     KIAA07603 5
OAZ2 3 5      Smad- And Olf-Interacting Zinc Finger Protein1
Early B-Cell Factor Associated Zinc Finger Protein1 2     OLF-1/EBF Associated Zinc Finger Gene1
Olf1/EBF-Associated Zinc Finger Protein2 3     Ebfaz2
hOAZ2 3     Roaz2
Smad- And Olf-Interacting Zinc Finger Protein2 3     Zfp1042
JBTS192 5     OLF-1/EBF Associated Zinc Finger2

External Ids:    HGNC: 167621   Entrez Gene: 230902   Ensembl: ENSG000001029357   OMIM: 6045575   UniProtKB: Q2M1K93   

Export aliases for ZNF423 gene to outside databases

Previous GC identifers: GC16M049303 GC16M048082 GC16M035413


(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 ZNF423 Gene:
The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger
proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different
signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during
development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19.
Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Oct 2012)

GeneCards Summary for ZNF423 Gene:
ZNF423 (zinc finger protein 423) is a protein-coding gene. Diseases associated with ZNF423 include joubert syndrome 19, and nephronophthisis 14. An important paralog of this gene is ZNF91.

UniProtKB/Swiss-Prot: ZN423_HUMAN, Q2M1K9
Function: Transcription factor that can both act as an activator or a repressor depending on the context. Plays a
central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to
activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a
transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing
EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a
developmental switch that regulates the transition from differentiation to maturation in olfactory receptor
neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation

Gene Wiki entry for ZNF423 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_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZNF423 gene promoter:
         Elk-1   Pax-5   Bach2   Lmo2   MyoD   Nkx2-5   POU6F1 (c2)   ARP-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ZNF423 promoter sequence
   Search Chromatin IP Primers for ZNF423

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZNF423


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

Entrez Gene cytogenetic band: 16q12   Ensembl cytogenetic band:  16q12.1   HGNC cytogenetic band: 16q12

ZNF423 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF423 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M049524:  view genomic region     (about GC identifiers)

Start:
49,521,435 bp from pter      End:
49,891,830 bp from pter
Size:
370,396 bases      Orientation:
minus strand

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ZN423_HUMAN, Q2M1K9 (See protein sequence)
Recommended Name: Zinc finger protein 423  
Size: 1284 amino acids; 144605 Da
Subunit: Homodimer (By similarity). Interacts with EBF1 (By similarity). Interacts with SMAD1 and SMAD4. Interacts
with PARP1. Interacts with CEP290
1 PDB 3D structure from and Proteopedia for ZNF423:
2MDG (3D)    
Secondary accessions: O94860 Q76N04 Q9NZ13

Explore the universe of human proteins at neXtProt for ZNF423: NX_Q2M1K9

Explore proteomics data for ZNF423 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZNF423 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258549.1  NP_055884.2  

    ENSEMBL proteins: 
     ENSP00000455426   ENSP00000455588   ENSP00000457928   ENSP00000442321   ENSP00000455061  
     ENSP00000457664   ENSP00000457065   ENSP00000262383  

    ZNF423 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for ZNF423


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q2M1K9

    ProtoNet protein and cluster: Q2M1K9

    UniProtKB/Swiss-Prot: ZN423_HUMAN, Q2M1K9
    Domain: Uses different DNA- and protein-binding zinc fingers to regulate the distinct BMP-Smad and Olf signaling
    pathways. C2H2-type zinc fingers 14-19 mediate the interaction with SMAD1 and SMAD4, while zinc fingers 28-30
    mediate the interaction with EBF1. zinc fingers 2-8 bind the 5'-CCGCCC-3' DNA sequence in concert with EBF1,
    while zinc fingers 9-13 bind BMP target gene promoters in concert with SMADs
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 30 C2H2-type zinc fingers


    ZNF423 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,
    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: ZN423_HUMAN, Q2M1K9
    Function: Transcription factor that can both act as an activator or a repressor depending on the context. Plays a
    central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to
    activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a
    transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing
    EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a
    developmental switch that regulates the transition from differentiation to maturation in olfactory receptor
    neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI19345331
    GO:0046872metal ion binding IEA--
         
    ZNF423 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Zfp423):
     behavior/neurological  cellular  craniofacial  growth/size/body  homeostasis/metabolism 
     mortality/aging  nervous system  normal  respiratory system  taste/olfaction 

    ZNF423 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ZNF423: Zfp423tm1.2Ngc Zfp423tm1Reed

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ZNF423
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ZNF423
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ZNF423

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for ZNF423 (see all 345):
    ABHD15,  ABR,  ABTB1,  ACTG2,  ACTRT2,  ACVR2B,  ACY3,  ACYP1,  ADAMTS12,  ADNP

    miRNA
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    hsa-mir-26b-5p (MIRT030310), hsa-mir-17-3p (MIRT050769)

    Block miRNA regulation of human, mouse, rat ZNF423 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ZNF423 (see all 56):
    hsa-miR-579 hsa-miR-3938 hsa-miR-607 hsa-miR-429 hsa-miR-15a hsa-miR-503 hsa-miR-374a hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidZNF423 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ZNF423
    Predesigned siRNA for gene silencing in human, mouse, rat ZNF423

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ZNF423
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZNF423

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF423


    (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
    ZN423_HUMAN, Q2M1K9: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--

    ZNF423 for ontologies           About GeneDecksing


    (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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    SuperPaths for ZNF423 About    
    See pathways by source

    SuperPathContained pathways About
    1TGF Beta Signaling Pathway
    TGF Beta Signaling Pathway


    1 BioSystems Pathway for ZNF423
        TGF Beta Signaling Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZNF423
    Interactions:

        GeneGlobe Interaction Network for ZNF423

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for ZNF423 (Q2M1K91, 3 ENSP000002623834) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RARAP102761, 3, ENSP000002540664EBI-950016,EBI-413374 I2D: score=2 STRING: ENSP00000254066
    PARP1P098741, 3, ENSP000003557594EBI-950016,EBI-355676 I2D: score=2 STRING: ENSP00000355759
    EBF3Q9H4W63, ENSP000003576374I2D: score=1 STRING: ENSP00000357637
    RARGP136313, ENSP000003326954I2D: score=1 STRING: ENSP00000332695
    EBF1Q9UH733, ENSP000003228984I2D: score=4 STRING: ENSP00000322898
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0007219Notch signaling pathway ISS--
    GO:0007399nervous system development IEA--
    GO:0030154cell differentiation IEA--
    GO:0030513positive regulation of BMP signaling pathway ISS--

    ZNF423 for ontologies           About GeneDecksing



    (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 ZNF423 (ZN423)

    2 PharmGKB related drug/compound annotations for ZNF423 gene    About this table
    Drug/compound PharmGKB Annotation
    raloxifeneCA  
    tamoxifenCA  



    ZNF423 for compounds           About GeneDecksing



    (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,
    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 ZNF423 gene (2 alternative transcripts): 
    NM_001271620.1  NM_015069.3  

    Unigene Cluster for ZNF423:

    Zinc finger protein 423
    Hs.530930  [show with all ESTs]
    Unigene Representative Sequence: NM_001271620
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561648 ENST00000563137 ENST00000562871(uc010vgn.2) ENST00000535559
    ENST00000567169 ENST00000562520 ENST00000568094 ENST00000561874 ENST00000262383(uc002efs.3)

    miRNA
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    Block miRNA regulation of human, mouse, rat ZNF423 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ZNF423 (see all 56):
    hsa-miR-579 hsa-miR-3938 hsa-miR-607 hsa-miR-429 hsa-miR-15a hsa-miR-503 hsa-miR-374a hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidZNF423 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ZNF423 (NM_015069)
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat ZNF423

    Additional mRNA sequence: 

    AB018303.2 AF221712.1 AK304829.1 AK309835.1 AK314742.1 BC112315.1 BC112317.1 

    3 DOTS entries:

    DT.202904  DT.120717039  DT.70102211 

    Selected AceView cDNA sequences (see all 54):

    CD626635 NM_015069 BM709616 AB018303 AK027479 CD626624 AI939415 AI921796 
    AF221712 AA777963 CD626631 BG211769 BG184656 AI369372 CD626630 BF933103 
    BG207570 BQ721055 BM698926 BU733621 BM669712 BI524120 BX116677 BG186899 

    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™, 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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    ZNF423 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ZNF423 Expression
    About this image


    ZNF423 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Thymus (Hematopoietic System)
             Double Negative 3 Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Negative 3 Thymocytes Thymus
    ZNF423 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZNF423 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.530930

    UniProtKB/Swiss-Prot: ZN423_HUMAN, Q2M1K9
    Tissue specificity: Expressed in brain, lung, skeletal muscle, heart, pancreas and kidney but not liver or
    placenta. Also expressed in aorta, ovary, pituitary, small intestine, fetal brain, fetal kidney and, within the
    adult brain, in the substantia nigra, medulla, amygdala, thalamus and cerebellum

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF423

    (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 animals.

    Orthologs for ZNF423 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zfp4231 , 5 zinc finger protein 4231, 5 91.61(n)1
    98.2(a)1
      8 (42.29 cM)5
    941871  NM_033327.21  NP_201584.21 
     876618105 
    chicken
    (Gallus gallus)
    Aves ZNF4231 zinc finger protein 423 79.98(n)
    92.81(a)
      415738  XM_004944184.1  XP_004944241.1 
    lizard
    (Anolis carolinensis)
    Reptilia ZNF4236
    zinc finger protein 423
    92(a)
    1 ↔ 1
    GL343227.1(2250899-2486845)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX690915.12   -- 85.19(n)    BX690915.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-216l23.11 si:ch211-216l23.1 74.49(n)
    81.39(a)
      566696  NM_001080030.1  NP_001073499.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Oaz6
    O/E-associated zinc finger protein
    25(a)
    1 → many
    2R(10323404-10353386)


    ENSEMBL Gene Tree for ZNF423 (if available)
    TreeFam Gene Tree for ZNF423 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ZNF423 gene
    ZNF912  ZNF5212  PEG32  ZNF8502  ZNF7292  ZNF2082  
    Selected SIMAP similar genes for ZNF423 using alignment to 3 protein entries:     ZN423_HUMAN (see all proteins) (see all similar genes):
    ZNF521    ZNF22    kr-znf3    DKFZp686N0199    ZSCAN31    ZNF
    ZNF564    ZNF600    ZNF78L1    GTF3A    ZNF345    ZNF55
    HZF16    ZNF702P    smap-7    KLF1    KLF4    A-328A3.4

    ZNF423 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), 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 ZNF423 (see all 7384)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2005859171,2,,4
    CNephronophthisis 14 (NPHP14)4 --50683350(+) CGCCCA/GGCCGG 4 P L mis10--------
    VAR_0685024
    Joubert syndrome 19 (JBTS19)4--see VAR_0685022 H Y mis40--------
    rs1381485451,2
    Cuntested150777666(+) GACTCG/AAAGTC 4 /F syn11Minor allele frequency- A:0.00NA 4552
    rs722029961,2
    C--35426122(+) TCTAG-/ACAC  
      ACACAC
    ACACA
    2 -- int10--------
    rs681934741,2
    C--35426245(+) CGCATACACAC  
      ACAC
    /-
    ACACA
    2 -- int11Minor allele frequency- -:0.50CSA 2
    rs1134772061,2
    C--35427938(+) TGGGCAGGATC  
     TTAGA
    /-
    AGGTA
    2 -- int11Minor allele frequency- -:0.50CSA 2
    rs340534391,2
    C--35556581(+) CTGGC-/TTTTTTT 2 -- int11Minor allele frequency- TT:0.00NA 2
    rs1116845781,2
    C--35573563(+) TTTAAT/-TTTTT 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs2020202901,2
    --35622499(+) AAAAA-/GAACAA 2 -- int10--------
    rs1454899141,2
    C--35651005(+) ATTCT-/TTTA  
            
    TTTAT
    2 -- int10--------

    HapMap Linkage Disequilibrium report for ZNF423 (49521435 - 49771435 bp, first 250kb of ZNF423)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ZNF423 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661154CNV Deletion23128226
    esv2714453CNV Deletion23290073
    esv2662064CNV Deletion23128226
    esv2714454CNV Deletion23290073
    esv2714455CNV Deletion23290073
    esv2670302CNV Deletion23128226
    esv1610530CNV Deletion17803354
    esv2714452CNV Deletion23290073
    nsv507815CNV Insertion20534489
    nsv517237CNV Loss19592680

    Human Gene Mutation Database (HGMD): ZNF423
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ZNF423
    DNA2.0 Custom Variant and Variant Library Synthesis for ZNF423

    (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

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    OMIM gene information: 604557   
    OMIM disorders: 614844  
    UniProtKB/Swiss-Prot: ZN423_HUMAN, Q2M1K9
  • Nephronophthisis 14 (NPHP14) [MIM:614844]: An autosomal recessive disorder manifesting as infantile-onset
    kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis is a progressive
    tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening
    of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Joubert syndrome 19 (JBTS19) [MIM:614844]: A form of Joubert syndrome, a disorder presenting with
    cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay.
    Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented
    superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar
    tooth on transaxial slices (molar tooth sign). JBTS19 patients have polycystic kidney disease, Leber congenital
    amaurosis, cerebellar vermis hypoplasia, and breathing abnormality. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for ZNF423 (see all 22):    
    About MalaCards
    joubert syndrome 19    nephronophthisis 14    hangover    joubert syndrome 2
    nephronophthisis    joubert syndrome    apraxia    situs inversus
    leber congenital amaurosis    cerebellar ataxia    attention deficit hyperactivity disorder    polycystic kidney disease
    kidney disease    hypotonia    ataxia    lupus erythematosus
    systemic lupus erythematosus    neuroblastoma    multiple myeloma    myeloma


    ZNF423 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ZNF423
    Human Genome Epidemiology (HuGE) Navigator: ZNF423 (2 documents)

    Export disorders for ZNF423 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

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    PubMed articles for ZNF423 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with ZNF423)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways. (PubMed id 10660046)1, 2, 3 Hata A....Massague J. (Cell 2000)
    2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1998)
    3. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. (PubMed id 22863007)1, 2 Chaki M....Hildebrandt F. (Cell 2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    6. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. (PubMed id 18821565)1, 4 Lasky-Su J....Faraone S.V. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    7. ZNF423 is critically required for retinoic acid-induced differentiation and is a marker of neuroblastoma outcome. (PubMed id 19345331)1, 9 Huang S....Bernards R. (Cancer Cell 2009)
    8. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
    9. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (Nat. Biotechnol. 2013)
    10. Aberrant ZNF423 impedes B cell differentiation and is linked to adverse outcome of ETV6-RUNX1 negative B precursor acute lymphoblastic leukemia. (PubMed id 24081948)1 Harder L....Horstmann M.A. (J. Exp. Med. 2013)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 23090 HGNC: 16762 AceView: ZNF423 Ensembl:ENSG00000102935 euGenes: HUgn23090
    ECgene: ZNF423 H-InvDB: ZNF423

    (According to HUGE)
    About This Section

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    HUGE: KIAA0760

    (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 ZNF423 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ZNF423 gene:
    Search GeneIP for patents involving ZNF423

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



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