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ZFHX4 zinc finger homeobox 4 [ Homo sapiens (human) ]

Gene ID: 79776, updated on 27-Nov-2024

Summary

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Official Symbol
ZFHX4provided by HGNC
Official Full Name
zinc finger homeobox 4provided by HGNC
Primary source
HGNC:HGNC:30939
See related
Ensembl:ENSG00000091656 MIM:606940; AllianceGenome:HGNC:30939
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ZFH4; ZHF4
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 2.1), adrenal (RPKM 2.1) and 16 other tissues See more
Orthologs
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Genomic context

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See ZFHX4 in Genome Data Viewer
Location:
8q21.13
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (76681247..76867281)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (77110392..77296418)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (77593482..77779517)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1111 Neighboring gene uncharacterized LOC107986952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27544 Neighboring gene ZFHX4 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr8:77553488-77553989 Neighboring gene mitochondrial ribosomal protein L9 pseudogene 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:77585153-77585653 Neighboring gene Sharpr-MPRA regulatory region 233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19304 Neighboring gene VISTA enhancer hs1318 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:77676670-77677613 Neighboring gene VISTA enhancer hs774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19305 Neighboring gene VISTA enhancer hs1681 Neighboring gene Sharpr-MPRA regulatory region 11833 Neighboring gene microRNA 3149 Neighboring gene peroxisomal biogenesis factor 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A bioinformatics analysis: ZFHX4 is associated with metastasis and poor survival in ovarian cancer. Zong S, et al. J Ovarian Res, 2022 Aug 1. PMID 35915456, Free PMC Article
  2. A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. McMullan TW, et al. Hum Genet, 2002 Mar. PMID 11935336
  3. Somatic mutations in ZFHX4 gene are associated with poor overall survival of Chinese esophageal squamous cell carcinoma patients. Qing T, et al. Sci Rep, 2017 Jul 10. PMID 28694483, Free PMC Article
  4. Prognostic Role of Zinc Finger Homeobox 4 in Ovarian Serous Cystadenocarcinoma. Ha M, et al. Genet Test Mol Biomarkers, 2020 Mar. PMID 32105524
  5. A homeodomain-zinc finger protein, ZFHX4, is expressed in neuronal differentiation manner and suppressed in muscle differentiation manner. Hemmi K, et al. Biol Pharm Bull, 2006 Sep. PMID 16946494

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A bioinformatics analysis: ZFHX4 is associated with metastasis and poor survival in ovarian cancer.
    Title: A bioinformatics analysis: ZFHX4 is associated with metastasis and poor survival in ovarian cancer.
  2. Prognostic Role of Zinc Finger Homeobox 4 in Ovarian Serous Cystadenocarcinoma.
    Title: Prognostic Role of Zinc Finger Homeobox 4 in Ovarian Serous Cystadenocarcinoma.
  3. Results showed that ZFHX4 was overexpressed in esophageal squamous cell carcinoma (ESCC) tumor compared to normal controls, and knockdown of ZFHX4 in vitro significantly inhibited cell migration and invasion. Mutations in ZFHX4 were strongly associated with poor prognosis and its down-regulation inhibits the progression of ESCC.
    Title: Somatic mutations in ZFHX4 gene are associated with poor overall survival of Chinese esophageal squamous cell carcinoma patients.
  4. rs28727938[G] is associated with susceptibility to cutaneous basal cell carcinoma.
    Title: New basal cell carcinoma susceptibility loci.
  5. ZFHX4 interacts with and regulates CHD4.
    Title: ZFHX4 interacts with the NuRD core member CHD4 and regulates the glioblastoma tumor-initiating cell state.
  6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  9. Human ZFH-4 is a candidate gene for congenital bilateral isolated ptosis, identified by molecular analysis of a de novo balanced translocation.
    Title: A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation.
Submit: New GeneRIF Correction

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
Ptosis, hereditary congenital, 1
MedGen: C1867438 OMIM: 178300 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome wide association study of age at menarche in the Japanese population.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ16514, FLJ20980

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 DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
zinc finger homeobox protein 4
Names
zinc-finger homeodomain protein 4

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.

mRNA and Protein(s)

  1. NM_001410934.1 → NP_001397863.1  zinc finger homeobox protein 4 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC011716, AC023200, AC087110
    Consensus CDS
    CCDS94320.1
    UniProtKB/TrEMBL
    E7EVZ1
    Related
    ENSP00000430848.1, ENST00000518282.5

  2. NM_024721.5 → NP_078997.4  zinc finger homeobox protein 4 isoform 1

    See identical proteins and their annotated locations for NP_078997.4

    Status: VALIDATED

    Source sequence(s)
    AB083343, AC011716, AC023200, AC087110, CA430749, DA658176
    Consensus CDS
    CCDS47878.2
    UniProtKB/Swiss-Prot
    G3V138, Q18PS0, Q6ZN20, Q86UP3
    Related
    ENSP00000498627.1, ENST00000651372.2
    Conserved Domains (6) summary
    PHA02682
    Location:2350 → 2506
    PHA02682; ORF080 virion core protein; Provisional
    smart00389
    Location:2130 → 2185
    HOX; Homeodomain
    COG5576
    Location:2101 → 2240
    COG5576; Homeodomain-containing transcription factor [Transcription]
    sd00017
    Location:1543 → 1567
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00020
    Location:1399 → 1419
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00046
    Location:2229 → 2282
    Homeobox; Homeobox domain

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    76681247..76867281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    77110392..77296418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86UP3.1 GenPept UniProtKB/Swiss-Prot:Q86UP3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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