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

Gene ID: 23090, updated on 27-Nov-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
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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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Nephronophthisis 14 Compare labs

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0760, MGC138520, MGC138522

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
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)

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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_001271620.2NP_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:134535
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:80100
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_001330533.2NP_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_001379286.1NP_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:202603
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:148168
    ZF_C2H2; C2H2 Zn finger [structural motif]
  4. NM_015069.5NP_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:194595
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:140160
    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_047433809.1XP_047289765.1  zinc finger protein 423 isoform X6

  2. XM_047433808.1XP_047289764.1  zinc finger protein 423 isoform X5

  3. XM_047433805.1XP_047289761.1  zinc finger protein 423 isoform X3

  4. XM_047433804.1XP_047289760.1  zinc finger protein 423 isoform X2

  5. XM_006721171.5XP_006721234.1  zinc finger protein 423 isoform X4

    UniProtKB/TrEMBL
    B7Z9C7
    Conserved Domains (2) summary
    COG5048
    Location:209610
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:155175
    ZF_C2H2; C2H2 Zn finger [structural motif]
  6. XM_047433806.1XP_047289762.1  zinc finger protein 423 isoform X4

  7. XM_047433803.1XP_047289759.1  zinc finger protein 423 isoform X1

  8. XM_047433807.1XP_047289763.1  zinc finger protein 423 isoform X4

  9. XM_005255856.5XP_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:134535
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:80100
    ZF_C2H2; C2H2 Zn finger [structural motif]
  10. XM_017023078.2XP_016878567.1  zinc finger protein 423 isoform X6

    UniProtKB/TrEMBL
    B7Z9C7
    Related
    ENSP00000457928.1, ENST00000562871.5
    Conserved Domains (2) summary
    COG5048
    Location:134535
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:80100
    ZF_C2H2; C2H2 Zn finger [structural motif]
  11. XM_047433810.1XP_047289766.1  zinc finger protein 423 isoform X7

    UniProtKB/TrEMBL
    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_054379860.1XP_054235835.1  zinc finger protein 423 isoform X6

  2. XM_054379859.1XP_054235834.1  zinc finger protein 423 isoform X5

  3. XM_054379855.1XP_054235830.1  zinc finger protein 423 isoform X3

  4. XM_054379854.1XP_054235829.1  zinc finger protein 423 isoform X2

  5. XM_054379857.1XP_054235832.1  zinc finger protein 423 isoform X4

  6. XM_054379856.1XP_054235831.1  zinc finger protein 423 isoform X4

  7. XM_054379853.1XP_054235828.1  zinc finger protein 423 isoform X1

  8. XM_054379858.1XP_054235833.1  zinc finger protein 423 isoform X4

  9. XM_054379861.1XP_054235836.1  zinc finger protein 423 isoform X6

  10. XM_054379862.1XP_054235837.1  zinc finger protein 423 isoform X6

  11. XM_054379863.1XP_054235838.1  zinc finger protein 423 isoform X7

    UniProtKB/TrEMBL
    F5H7S1