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

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: mouse all
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Genomic context

Location:: 16q12.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (49487524..49859279, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (55285346..55656988, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (49521435..49891830, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of the preadipocyte marker ZFP423 is dysregulated between well-differentiated and dedifferentiated liposarcoma.
Title: Expression of the preadipocyte marker ZFP423 is dysregulated between well-differentiated and dedifferentiated liposarcoma.
ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities.
Title: ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities.
The present study denoted that ZNF423 is an oxidative stress-responsive gene with an oncogenic property contributing to the regulation of CCA genesis.
Title: Roles of Zinc Finger Protein 423 in Proliferation and Invasion of Cholangiocarcinoma through Oxidative Stress.
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease.
Title: Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease.
We identified calmodulin-like protein 3 (CALML3) as a key sensor of this SNP and a coregulator of ERalpha, which contributes to differential gene transcription regulation in an estrogen and SERM-dependent fashion. Furthermore, using CRISPR/Cas9-engineered ZR75-1 breast cancer cells with different ZNF423 SNP genotypes, striking differences in cellular responses to SERMs and PARP inhibitors, alone or in combination
Title: Calmodulin-like protein 3 is an estrogen receptor alpha coregulator for gene expression and drug response in a SNP, estrogen, and SERM-dependent fashion.
We report that CTSO reduces the protein levels of BRCA1 and ZNF423 through cysteine proteinase-mediated degradation. We also have identified a series of transcription factors of BRCA1 that are regulated by CTSO at the protein level.
Title: SNPs near the cysteine proteinase cathepsin O gene (CTSO) determine tamoxifen sensitivity in ERα-positive breast cancer through regulation of BRCA1.
two multi-zinc finger transcription cofactors named ZNF423 and ZNF521 have been characterised as potent inhibitors of EBF1 and are emerging as potentially relevant contributors to the development of B-cell leukaemias
Title: ZNF423 and ZNF521: EBF1 Antagonists of Potential Relevance in B-Lymphoid Malignancies.
ZNF423 is a target for epigenetic deregulation and BMP2-dependent pathways in childhood B precursor acute lymphoblastic leukemia. Aberrant ZNF423 inhibits EBF-1 target genes, leads to a B cell maturation arrest in vivo and is associated with poor outcome of ETV6-RUNX1-negative acute lymphoblastic leukemia.
Title: Aberrant ZNF423 impedes B cell differentiation and is linked to adverse outcome of ETV6-RUNX1 negative B precursor acute lymphoblastic leukemia.
OAZ gene expression was highly enriched in mesenchymal stem cells (MSCs) compared with peripheral blood leukocytes and was increased in patients with systemic lupus erythematosus (SLE) compared with control subjects.
Title: Restored immunosuppressive effect of mesenchymal stem cells on B cells after olfactory 1/early B cell factor-associated zinc-finger protein down-regulation in patients with systemic lupus erythematosus.
ZNF423 expression is associated with poor outcome of ETV6-RUNX1-negative B precursor acute lymphoblastic leukemia patients.
Title: Aberrant ZNF423 impedes B cell differentiation and is linked to adverse outcome of ETV6-RUNX1 negative B precursor acute lymphoblastic leukemia.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nephronophthisis 14 MedGen: C3539071 OMIM: 614844 GeneReviews: Joubert Syndrome, Nephronophthisis-Related Ciliopathies	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 EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S517 (e-PCR)
- UniSTS:55840

SHGC-145121 (e-PCR)
- UniSTS:174404

Zfp423 (e-PCR), detects polymorphism
- UniSTS:474696

D16S2851 (e-PCR)
- UniSTS:153421

SHGC-143325 (e-PCR)
- UniSTS:171857

D16S3080 (e-PCR), detects polymorphism
- UniSTS:52315

D16S411 (e-PCR), detects polymorphism
- UniSTS:50013

SHGC-148166 (e-PCR)
- UniSTS:176236

D16S2889 (e-PCR)
- UniSTS:153459

RH66276 (e-PCR)
- UniSTS:65657

SHGC-146527 (e-PCR)
- UniSTS:175271

D16S411 (e-PCR), detects polymorphism
- UniSTS:65454

RH65128 (e-PCR)
- UniSTS:89526

D16S2614 (e-PCR)
- UniSTS:80570

D16S290 (e-PCR)
- UniSTS:146876

SHGC-60816 (e-PCR)
- UniSTS:8899

D16S2715 (e-PCR)
- UniSTS:153285

D16S3237 (e-PCR)
- UniSTS:76764

D16S2768 (e-PCR)
- UniSTS:153338

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

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein localization to cilium	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info

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

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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

NG_032972.2 RefSeqGene

Range

6808..375396

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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
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]
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

49487524..49859279 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047433809.1 → XP_047289765.1 zinc finger protein 423 isoform X6
XM_047433808.1 → XP_047289764.1 zinc finger protein 423 isoform X5
XM_047433805.1 → XP_047289761.1 zinc finger protein 423 isoform X3
XM_047433804.1 → XP_047289760.1 zinc finger protein 423 isoform X2
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]
XM_047433806.1 → XP_047289762.1 zinc finger protein 423 isoform X4
XM_047433803.1 → XP_047289759.1 zinc finger protein 423 isoform X1
XM_047433807.1 → XP_047289763.1 zinc finger protein 423 isoform X4
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]
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]
XM_047433810.1 → XP_047289766.1 zinc finger protein 423 isoform X7

UniProtKB/TrEMBL

F5H7S1

Related

ENSP00000455061.1, ENST00000567169.5

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

55285346..55656988 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379860.1 → XP_054235835.1 zinc finger protein 423 isoform X6
XM_054379859.1 → XP_054235834.1 zinc finger protein 423 isoform X5
XM_054379855.1 → XP_054235830.1 zinc finger protein 423 isoform X3
XM_054379854.1 → XP_054235829.1 zinc finger protein 423 isoform X2
XM_054379857.1 → XP_054235832.1 zinc finger protein 423 isoform X4
XM_054379856.1 → XP_054235831.1 zinc finger protein 423 isoform X4
XM_054379853.1 → XP_054235828.1 zinc finger protein 423 isoform X1
XM_054379858.1 → XP_054235833.1 zinc finger protein 423 isoform X4
XM_054379861.1 → XP_054235836.1 zinc finger protein 423 isoform X6
XM_054379862.1 → XP_054235837.1 zinc finger protein 423 isoform X6
XM_054379863.1 → XP_054235838.1 zinc finger protein 423 isoform X7

UniProtKB/TrEMBL

F5H7S1