Format

Send to:

Choose Destination

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

Gene ID: 23090, updated on 2-Oct-2018

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; Vega:OTTHUMG00000173491
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

Genomic context

See ZNF423 in Genome Data Viewer
Location:
16q12.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (49487531..49857919, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (49524515..49891830, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371245 Neighboring gene long intergenic non-protein coding RNA 2179 Neighboring gene ADAM metallopeptidase domain 3B (pseudogene) Neighboring gene VISTA enhancer hs625 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 7 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 8 Neighboring gene ribosomal protein L34 pseudogene 29 Neighboring gene CTD nuclear envelope phosphatase 1 regulatory subunit 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Nephronophthisis 14
MedGen: C3539071 OMIM: 614844 GeneReviews: Joubert Syndrome, Nephronophthisis
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Differentiation of white and brown adipocyte, organism-specific biosystem (from WikiPathways)
    Differentiation of white and brown adipocyte, organism-specific biosystemDevelopment of white versus brown adipocytes (figure from Handbook of Obesity). Transcription factors and nuclear regulators controlling the development of white versus brown adipocytes are shown in ...
  • TGF-beta Receptor Signaling, organism-specific biosystem (from WikiPathways)
    TGF-beta Receptor Signaling, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0760, MGC138520, MGC138522

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    5001..375389
    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/Swiss-Prot
    Q2M1K9
    UniProtKB/TrEMBL
    B3KNG7
    Related
    ENSP00000457664.1, OTTHUMP00000250467, ENST00000562520.1, OTTHUMT00000423263
    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_001330533.1NP_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)
    AC007607, AC007861, AK304829, BM674965, DC423806
    Consensus CDS
    CCDS81979.1
    UniProtKB/TrEMBL
    B7Z9C7, F5H7S1
    Related
    ENSP00000442321.1, ENST00000535559.5
  3. NM_015069.4NP_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
    Q2M1K9
    UniProtKB/TrEMBL
    B3KNG7
    Related
    ENSP00000262383.2, ENST00000262383.6
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    49487531..49857919 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023076.2XP_016878565.1  zinc finger protein 423 isoform X2

  2. XM_006721171.4XP_006721234.1  zinc finger protein 423 isoform X1

    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]
  3. XM_017023077.1XP_016878566.1  zinc finger protein 423 isoform X3

    UniProtKB/Swiss-Prot
    Q2M1K9
    Related
    ENSP00000455588.2, OTTHUMP00000250463, ENST00000563137.6, OTTHUMT00000423259
    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]
  4. XM_005255856.4XP_005255913.1  zinc finger protein 423 isoform X3

    See identical proteins and their annotated locations for XP_005255913.1

    UniProtKB/Swiss-Prot
    Q2M1K9
    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]
  5. XM_017023078.1XP_016878567.1  zinc finger protein 423 isoform X3

    UniProtKB/Swiss-Prot
    Q2M1K9
    Related
    ENSP00000457928.1, OTTHUMP00000250464, ENST00000562871.5, OTTHUMT00000423260
    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]
Support Center