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

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)
About This Section

Aliases
Zinc Finger Protein 4231 2     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
NPHP142 3     JBTS192
hOAZ2 3     Roaz2
Smad- And Olf-Interacting Zinc Finger Protein2 3     Zfp1042
ZFP4232 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hangover. GO annotations related to this gene include DNA binding and zinc ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ZNF423

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q2M1K9

  • ZNF423 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZNF423 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001258549.1  NP_055884.2  

    ENSEMBL proteins: 
     ENSP00000455426   ENSP00000455588   ENSP00000457928   ENSP00000442321   ENSP00000455061  
     ENSP00000457664   ENSP00000457065   ENSP00000262383  

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    Cloud-Clone Corp. Proteins for ZNF423 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10660046

    ZNF423 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
    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,
    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: 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): 5 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:0005515protein binding IPI19345331
    GO:0008270zinc ion binding ----
    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  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 - Custom generated mouse model solutions for ZNF423 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ZNF423

       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 

    10/347 SABiosciences Target genes for ZNF423 (see all 347):
    ABHD15 ABR ABTB1 ACTG2 ACTRT2 ACVR2B ACY3 ACYP1 ADAMTS12 ADNP

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidZNF423 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF423


    (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

    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


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ZNF423

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

    5/14 Interacting proteins for ZNF423 (Q2M1K91, 3 ENSP000002623834) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent 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 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

    ZNF423 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ZNF423 (ZN423)

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

    Search CenterWatch for drugs/clinical trials and news about ZNF423 / ZN423

    (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 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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    8/56 QIAGEN miScript miRNA 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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    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 

    24/54 AceView cDNA sequences (see all 54):

    AI921796 AK027479 CD626624 NM_015069 BM709616 AF221712 AI939415 CD626635 
    AB018303 AA777963 BU733621 BG211769 BG186899 CD626631 BF933103 AI369372 
    CD626638 BQ721055 BX116677 CD626630 BM698926 BI524120 BG207570 BG184656 

    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

    ZNF423 expression in normal human tissues (normalized intensities)      ZNF423 embryonic expression: see
    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 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             Human Cerebellar Astrocytes   
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Peripheral Nervous System (Nervous System)
             Human Schwann Cells (HSC)   
     
     Thymus (Hematopoietic System)
             Double Negative 3 Thymocytes Thymus

    See ZNF423 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZNF423

    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

        SABiosciences Custom PCR Arrays for ZNF423
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ZNF423 gene from 7/13 species (see all 13)    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_414103.3  XP_414103.3 
    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 74.62(n)
    81.39(a)
      566696  NM_001080030.1  NP_001073499.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hang6
    Oaz6
    (see all 3)
    O/E-associated zinc finger protein
    (see all 3)
    8(a)
    17(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    X(16316877-16331531)
    2R(10323404-10353386)
    worm
    (Caenorhabditis elegans)
    Secernentea C09F5.36
    Putative zinc finger protein C09F5.3
    29(a)
    1 → many
    III(662847-666265)


    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)
    About This Section
    Paralogs for ZNF423 gene
    ZNF912  ZNF7212  ZNF5212  ZNF6462  ZNF8502  ZNF7292  ZNF2082  
    18/50 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
    ZNF600    ZNF78L1    GTF3A    ZEB1    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) 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

    10/7384 SNPs in ZNF423 are shown (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
    ----------
    VAR_0685024
    Joubert syndrome 19 (JBTS19)4--see VAR_0685022 H Y mis40--------
    rs2005859171,2,4
    CNephronophthisis 14 (NPHP14)4 --50683350(+) CGCCCA/GGCCGG 4 P L mis10--------
    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) 10/17 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604557    OMIM disorders: --

    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

  • 16 diseases for ZNF423:    About MalaCards
    joubert syndrome 19    hangover    nephronophthisis    joubert syndrome
    apraxia    situs inversus    leber congenital amaurosis    attention deficit hyperactivity disorder
    cerebellar ataxia    polycystic kidney disease    hypotonia    kidney disease
    ataxia    lupus erythematosus    neuroblastoma    neuronitis


    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

    PubMed articles for ZNF423 gene, integrated from 9 sources (see all 25):
    (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. (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. (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. (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. (2010)
    5. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (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. (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. (2009)
    8. Loci associated with N-glycosylation of human immunogl obulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (2013)
    9. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (2013)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      Query String
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      (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: 23090 HGNC: 16762 AceView: ZNF423 Ensembl:ENSG00000102935 euGenes: HUgn23090
    ECgene: ZNF423 H-InvDB: ZNF423

    (According to HUGE)
    About This Section
    HUGE: KIAA0760

    (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 ZNF423 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 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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