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

ZNF423 Gene

protein-coding   GIFtS: 52
GCID: GC16M049524

zinc finger protein 423
 Explore 6 diseases affiliated with
ZNF423 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ZNF423    

Aliases
for ZNF423 gene

(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 4231 2     Olf1/EBF-Associated Zinc Finger Protein2 3
OAZ1 2 3 5     HOAZ1
NPHP141 2 3     Smad- And Olf-Interacting Zinc Finger Protein2 3
KIAA07601 3 5     ZFP4232 5
Ebfaz1 2     JBTS192
Roaz1 2     Early B-Cell Factor Associated Zinc Finger Protein2
Zfp1041 2     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


Summaries
for ZNF423 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
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

Proteins
for ZNF423 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q2M1K9

    • ZNF423 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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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    Uscn Proteins for ZNF423

    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 IDA10660046


    ZNF423 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ZNF423

    Protein Domains /
    Families
    for ZNF423 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ZNF423 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    Function
    for ZNF423 gene

    (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: 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

    10/355 SABiosciences Target genes for ZNF423 (see all 355):
    ABHD15 ABR ABTB1 ACTG2 ACTRT2 ACVR2B ACY3 ACYP1 ADAMTS12 ADNP

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: ZNF423 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: ZNF423
    OriGene siRNA: ZNF423
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0016564transcription repressor activity ----
    GO:0042803protein homodimerization activity ----


    ZNF423 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for ZNF423 gene

    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TGF Beta Signaling Pathway
    		TGF Beta Signaling Pathway1.00


    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



    Drugs & Compounds
    for ZNF423 gene

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

    Transcripts
    for ZNF423 gene

    (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,
    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, 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ZNF423
    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 plasmid: ZNF423 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ZNF423 (see all 7)
    OriGene shRNA RFP: ZNF423
    OriGene siRNA: ZNF423
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ZNF423
    Clone
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    Primer
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    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.202904  DT.120717039 

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

    AK027479 AF221712 CD626635 AI939415 NM_015069 CD626624 BM709616 AB018303 
    AI921796 AA777963 BF933103 AI369372 BG207570 BG211769 BM698926 CD626638 
    BG186899 BI524120 BG184656 BM669712 BG202347 BU733621 CD626630 BX116677 

    GeneLoc Exon Structure


    Expression
    for ZNF423 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™, 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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    ZNF423 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

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    In Situ
    Assay Products:     
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    Orthologs
    for ZNF423 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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ZNF423 gene from 7/16 species (see all 16)    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
    		 --
    		 91(a)
    		 1 ↔ 1
    		 GL343227.1(2253717-2272724)
    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 Oaz6
    hang6
    		 hangover
    		 22(a)
    10(a)
    		 many → 1
    possible ortholog
    		 2R(10323404-10353386)
    X(16316877-16331531)
    worm
    (Caenorhabditis elegans)    		 Secernentea C09F5.36
    		 Putative zinc finger protein C09F5.3
    		 24(a)
    		 1 → many
    		 III(662844-666261)


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

    Paralogs
    for ZNF423 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZNF423 gene
    ZNF5212  
    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    KLF7    ZEB1    ZNF345
    ZNF55    HZF16    ZNF702P    smap-7    KLF1    A-328A3.4

    ZNF423 for paralogs           About GeneDecksing



    Genomic Variants
    for ZNF423 gene

    (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

    10/6072 NCBI SNPs in ZNF423 are shown (see all 6072)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1381485451,2
    		Cother49764731(+) GACTCG/AAAGTC 4 /F syn11Minor allele frequency- A:0.00NA 4552
    rs740161891,2
    		C,--35413546(+) CAAGGG/AAAGGG 2 -- ds50011Minor allele frequency- A:0.50WA 2
    rs774687251,2
    		F,--35415041(+) AGGAAA/GCTCTG 2 -- int11Minor allele frequency- G:0.10WA 118
    rs1129609271,2
    		C,--35415062(+) GGCTGC/TCCTCG 2 -- int11Minor allele frequency- T:0.50NA 2
    rs1130644631,2
    		--35415194(+) CGGCCG/TTGGTG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1117261911,2
    		C,--35415625(+) GTGTAG/-GGTGG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs71926241,2
    		C,A,--35415874(+) CGCAGT/CCCCTT 2 -- int12Minor allele frequency- C:0.13CSA WA 120
    rs71877641,2
    		C,A,--35415918(+) GTGGTA/GATGTC 2 -- int12Minor allele frequency- G:0.12CSA WA 120
    rs798868321,2
    		C,--35416356(+) CGGTCG/AGGGGC 2 -- int12Minor allele frequency- A:0.04NA 122
    rs1112275861,2
    		--35416376(+) CCAGAG/AGCACC 2 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for ZNF423 (49521435 - 49771435 bp, first 250kb of ZNF423)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ZNF423
         1 CNV: 49718
         1 Indel: 25645
    Human Gene Mutation Database (HGMD): ZNF423

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    Disorders / Diseases
    for ZNF423 gene

    (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
    ZNF423 for disorders           About GeneDecksing

    OMIM gene information: 604557    OMIM disorders: --

    UniProtKB/Swiss-Prot: ZN423_HUMAN, Q2M1K9
  • Defects in ZNF423 are the cause of 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
  • Defects in ZNF423 are the cause of 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

    6 diseases for ZNF423:    About MalaCards
    attention deficit hyperactivity disorder    lupus erythematosus    ataxia    neuroblastoma
    neuronitis    hangover

    Human Genome Epidemiology (HuGE) Navigator: ZNF423 (2 documents)

    Export disorders for ZNF423 gene to outside databases

    Publications
    for ZNF423 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)
    About This Section

    PubMed articles for ZNF423 gene, integrated from 9 sources (see all 22):
    (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. 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)
    5. 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)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Olf1/EBF associated zinc finger protein interfered wi th antinuclear antibody production in patients with systemic lupus erythematosu s. (PubMed id 20359360)1 Feng X....Sun L. (2010)
    8. [Gene expression of OAZ pathway in the patients of sy stemic lupus erythematosus] (PubMed id 20017333)1 Li R.L....Feng X.B. (2009)
    9. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1 Uhl G.R....Lerman C. (2008)
    10. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. (PubMed id 18821565)1 Lasky-Su J....Faraone S.V. (2008)

    External Searches for ZNF423 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    Genome Databases showing ZNF423 gene

    (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

    Other Databases showing ZNF423 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0760

    Specialized Databases showing ZNF423 gene

    (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

    Intellectual Property
    for ZNF423 gene

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

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