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

Summary

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, Dec 2024]
Expression: Broad expression in testis (RPKM 2.1), adrenal (RPKM 2.1) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Prognostic Role of Zinc Finger Homeobox 4 in Ovarian Serous Cystadenocarcinoma.
Title: Prognostic Role of Zinc Finger Homeobox 4 in Ovarian Serous Cystadenocarcinoma.
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.
rs28727938[G] is associated with susceptibility to cutaneous basal cell carcinoma.
Title: New basal cell carcinoma susceptibility loci.
ZFHX4 interacts with and regulates CHD4.
Title: ZFHX4 interacts with the NuRD core member CHD4 and regulates the glioblastoma tumor-initiating cell state.
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.
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.
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.
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.

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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	Compare labs

EBI GWAS Catalog

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

SHGC-57975 (e-PCR)
- UniSTS:53763

SHGC-84084 (e-PCR)
- UniSTS:104729

ZFH4__4938 (e-PCR)
- UniSTS:463934

D8S1134 (e-PCR)
- UniSTS:27466

RH121734 (e-PCR)
- UniSTS:134477

NoName (e-PCR)
- UniSTS:481900

D8S1081 (e-PCR)
- UniSTS:70559

SHGC-148315 (e-PCR)
- UniSTS:176316

RH45950 (e-PCR)
- UniSTS:57543

RH68544 (e-PCR)
- UniSTS:82147

STS-AA010197 (e-PCR)
- UniSTS:54757

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)

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/Swiss-Prot

G3V138, Q18PS0, Q6ZN20, Q86UP3

UniProtKB/TrEMBL

E7EVZ1

Related

ENSP00000430848.1, ENST00000518282.5
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