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    ZNF423 zinc finger protein 423 [ Homo sapiens (human) ]

    Gene ID: 23090, updated on 10-Dec-2024

    Summary

    Official Symbol
    ZNF423provided by HGNC
    Official Full Name
    zinc finger protein 423provided by HGNC
    Primary source
    HGNC:HGNC:16762
    See related
    Ensembl:ENSG00000102935 MIM:604557; AllianceGenome:HGNC:16762
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OAZ; Roaz; hOAZ; Ebfaz; JBTS19; NPHP14; ZFP423; Zfp104
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 2.2), ovary (RPKM 1.9) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ZNF423 in Genome Data Viewer
    Location:
    16q12.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (49487524..49859279, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (55285346..55656988, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (49521435..49891830, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371244 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49407168-49407898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49407899-49408629 Neighboring gene chromosome 16 open reading frame 78 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49464652-49465152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49465153-49465653 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49475185-49476132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49477189-49477690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49498687-49499188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7461 Neighboring gene long intergenic non-protein coding RNA 2179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49526437-49527060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49527061-49527682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49557435-49557934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49561586-49562584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49572197-49572697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49572734-49573234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49582945-49583756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49582132-49582944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49591427-49592314 Neighboring gene ADAM metallopeptidase domain 3B (pseudogene) Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:49602152-49602652 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:49602653-49603153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49630850-49631370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49649156-49649656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49649657-49650157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49651175-49651675 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:49681934-49683133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49695163-49695664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49695665-49696164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49696971-49697505 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49697506-49698039 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:49714232-49715152 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49729865-49730546 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49730547-49731228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49732593-49733274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49731911-49732592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49731229-49731910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49733957-49734638 Neighboring gene VISTA enhancer hs625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49738731-49739411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49746094-49746661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49746662-49747228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49753579-49754080 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49778329-49778910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49780200-49780700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49787863-49788521 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49788522-49789180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49802443-49803319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49807897-49808408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49809947-49810458 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:49834328-49834828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10807 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49843426-49844370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49842480-49843425 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49844371-49845316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49855155-49855693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49855694-49856231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49862291-49862838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49869044-49869874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49869875-49870704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49871536-49872365 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49873197-49874025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7463 Neighboring gene Sharpr-MPRA regulatory region 4070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49955517-49956248 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:49956925-49957108 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:49958091-49958263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49962303-49962803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49968907-49969407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7464 Neighboring gene ribosomal protein L34 pseudogene 29 Neighboring gene nuclear receptor coactivator 5 like, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (16 hits/1285 screens)

    Associated conditions

    EBI GWAS Catalog

    Description
    Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • KIAA0760, MGC138520, MGC138522

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in nucleoplasm  
    located_in nucleus PubMed 

    General protein information

    Preferred Names
    zinc finger protein 423
    Names
    OLF-1/EBF associated zinc finger
    Smad- and Olf-interacting zinc finger protein
    early B-cell factor associated zinc finger protein
    olf1/EBF-associated zinc finger protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032972.2 RefSeqGene

      Range
      6808..375396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271620.2 → NP_001258549.1  zinc finger protein 423 isoform 2

      See identical proteins and their annotated locations for NP_001258549.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1, which results in translation initiation from an in-frame downstream AUG, and an isoform (2) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AB018303, AC007861, AK027479, AK309835, AK314742, BM674965, BU733621, CN396210
      Consensus CDS
      CCDS61930.1
      UniProtKB/TrEMBL
      B7Z9C7
      Related
      ENSP00000457664.1, ENST00000562520.1
      Conserved Domains (2) summary
      COG5048
      Location:134 → 535
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:80 → 100
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. NM_001330533.2 → NP_001317462.1  zinc finger protein 423 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' structure compared to variant 1, which results in translation initiation from an in-frame downstream AUG, and an isoform (3) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC007339, AC007607, AC007861, AK304829, BM674965, DC423806
      Consensus CDS
      CCDS81979.1
      UniProtKB/TrEMBL
      B7Z9C7, F5H7S1
      Related
      ENSP00000442321.1, ENST00000535559.5
    3. NM_001379286.1 → NP_001366215.1  zinc finger protein 423 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC007603, AC007607, AC007861, AC027348
      Consensus CDS
      CCDS92157.1
      UniProtKB/TrEMBL
      A0A7P0Q1F0, B7Z9C7
      Related
      ENSP00000455588.3, ENST00000563137.7
      Conserved Domains (2) summary
      COG5048
      Location:202 → 603
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:148 → 168
      ZF_C2H2; C2H2 Zn finger [structural motif]
    4. NM_015069.5 → NP_055884.2  zinc finger protein 423 isoform 1

      See identical proteins and their annotated locations for NP_055884.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB018303, AC007861, AK027479, AK309835, BC112315, BM674965, BU733621, CN396210
      Consensus CDS
      CCDS32445.1
      UniProtKB/Swiss-Prot
      O94860, Q2M1K9, Q76N04, Q9NZ13
      UniProtKB/TrEMBL
      B7Z9C7
      Related
      ENSP00000455426.1, ENST00000561648.5
      Conserved Domains (2) summary
      COG5048
      Location:194 → 595
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:140 → 160
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      49487524..49859279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433809.1 → XP_047289765.1  zinc finger protein 423 isoform X6

      UniProtKB/TrEMBL
      B7Z9C7
    2. XM_047433808.1 → XP_047289764.1  zinc finger protein 423 isoform X5

      UniProtKB/TrEMBL
      B7Z9C7
    3. XM_047433805.1 → XP_047289761.1  zinc finger protein 423 isoform X3

      UniProtKB/TrEMBL
      B7Z9C7
    4. XM_047433804.1 → XP_047289760.1  zinc finger protein 423 isoform X2

      UniProtKB/TrEMBL
      B7Z9C7
    5. XM_006721171.5 → XP_006721234.1  zinc finger protein 423 isoform X4

      UniProtKB/TrEMBL
      B7Z9C7
      Conserved Domains (2) summary
      COG5048
      Location:209 → 610
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:155 → 175
      ZF_C2H2; C2H2 Zn finger [structural motif]
    6. XM_047433806.1 → XP_047289762.1  zinc finger protein 423 isoform X4

      UniProtKB/TrEMBL
      B7Z9C7
    7. XM_047433803.1 → XP_047289759.1  zinc finger protein 423 isoform X1

      UniProtKB/TrEMBL
      B7Z9C7
    8. XM_047433807.1 → XP_047289763.1  zinc finger protein 423 isoform X4

      UniProtKB/TrEMBL
      B7Z9C7
    9. XM_005255856.5 → XP_005255913.1  zinc finger protein 423 isoform X6

      See identical proteins and their annotated locations for XP_005255913.1

      UniProtKB/TrEMBL
      B7Z9C7
      Conserved Domains (2) summary
      COG5048
      Location:134 → 535
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:80 → 100
      ZF_C2H2; C2H2 Zn finger [structural motif]
    10. XM_017023078.2 → XP_016878567.1  zinc finger protein 423 isoform X6

      UniProtKB/TrEMBL
      B7Z9C7
      Related
      ENSP00000457928.1, ENST00000562871.5
      Conserved Domains (2) summary
      COG5048
      Location:134 → 535
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:80 → 100
      ZF_C2H2; C2H2 Zn finger [structural motif]
    11. XM_047433810.1 → XP_047289766.1  zinc finger protein 423 isoform X7

      UniProtKB/TrEMBL
      B7Z9C7, F5H7S1
      Related
      ENSP00000455061.1, ENST00000567169.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      55285346..55656988 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379860.1 → XP_054235835.1  zinc finger protein 423 isoform X6

      UniProtKB/TrEMBL
      B7Z9C7
    2. XM_054379859.1 → XP_054235834.1  zinc finger protein 423 isoform X5

      UniProtKB/TrEMBL
      B7Z9C7
    3. XM_054379855.1 → XP_054235830.1  zinc finger protein 423 isoform X3

      UniProtKB/TrEMBL
      B7Z9C7
    4. XM_054379854.1 → XP_054235829.1  zinc finger protein 423 isoform X2

      UniProtKB/TrEMBL
      B7Z9C7
    5. XM_054379857.1 → XP_054235832.1  zinc finger protein 423 isoform X4

      UniProtKB/TrEMBL
      B7Z9C7
    6. XM_054379856.1 → XP_054235831.1  zinc finger protein 423 isoform X4

      UniProtKB/TrEMBL
      B7Z9C7
    7. XM_054379853.1 → XP_054235828.1  zinc finger protein 423 isoform X1

      UniProtKB/TrEMBL
      B7Z9C7
    8. XM_054379858.1 → XP_054235833.1  zinc finger protein 423 isoform X4

      UniProtKB/TrEMBL
      B7Z9C7
    9. XM_054379861.1 → XP_054235836.1  zinc finger protein 423 isoform X6

      UniProtKB/TrEMBL
      B7Z9C7
    10. XM_054379862.1 → XP_054235837.1  zinc finger protein 423 isoform X6

      UniProtKB/TrEMBL
      B7Z9C7
    11. XM_054379863.1 → XP_054235838.1  zinc finger protein 423 isoform X7

      UniProtKB/TrEMBL
      B7Z9C7, F5H7S1
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