Aliases for ZFHX4 Gene

Aliases for ZFHX4 Gene

  • Zinc Finger Homeobox 4 2 3 5
  • Zinc Finger Homeobox Protein 4 3 4
  • ZFH4 2 3
  • Zinc-Finger Homeodomain Protein 4 3
  • Zinc Finger Homeodomain Protein 4 4
  • Zinc Finger Homeodomain 4 2
  • FLJ20980 2
  • ZFHX4 5
  • ZFH-4 4
  • ZHF4 3

External Ids for ZFHX4 Gene

Previous GeneCards Identifiers for ZFHX4 Gene

  • GC08P077778
  • GC08P077593
  • GC08P073079

Summaries for ZFHX4 Gene

GeneCards Summary for ZFHX4 Gene

ZFHX4 (Zinc Finger Homeobox 4) is a Protein Coding gene. Diseases associated with ZFHX4 include Ptosis, Hereditary Congenital 1 and Congenital Ptosis. Among its related pathways are Ectoderm Differentiation and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and actin binding. An important paralog of this gene is ZFHX3.

UniProtKB/Swiss-Prot Summary for ZFHX4 Gene

  • May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZFHX4 Gene

Genomics for ZFHX4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZFHX4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J076672 Promoter/Enhancer 3.1 VISTA UCNEbase EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 602.7 -0.9 -930 16.2 RNF2 TEAD4 PRDM10 REST ZNF629 ZNF692 FOXA1 PRDM1 ZSCAN4 POLR2A ZFHX4-AS1 ZFHX4 HIGD1AP18 piR-31938-012 lnc-ZFHX4-5
GH08J076847 Enhancer 0.4 UCNEbase 6.8 +166.8 166784 0.4 GATA2 ZFHX4 lnc-PEX2-6 lnc-PEX2-7 PEX2
GH08J076819 Enhancer 0.2 FANTOM5 3.8 +137.9 137939 0 ZFHX4 lnc-PEX2-7 piR-55705-052 RF00017-7140 PEX2
GH08J076698 Enhancer 1.4 UCNEbase Ensembl ENCODE CraniofacialAtlas dbSUPER 0.4 +18.1 18082 3.4 PRDM10 POLR2A ZNF341 CEBPB EZH2 ZNF189 BHLHE40 RCOR1 ZNF366 PRDM6 ZFHX4-AS1 ZFHX4 ENSG00000276673 PEX2
GH08J076669 Enhancer 0.8 UCNEbase dbSUPER 0.4 -11.1 -11110 0.3 PKNOX1 RUNX3 JUNB BATF ETV6 CREM ZFHX4 ZFHX4-AS1 piR-31938-012 lnc-ZFHX4-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZFHX4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZFHX4

Top Transcription factor binding sites by QIAGEN in the ZFHX4 gene promoter:
  • AREB6
  • FOXO4
  • GATA-2
  • HOXA5
  • Ik-1
  • Ik-3
  • POU2F1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for ZFHX4 Gene

Genomic Locations for ZFHX4 Gene
186,067 bases
Plus strand
186,068 bases
Plus strand

Genomic View for ZFHX4 Gene

Genes around ZFHX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZFHX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZFHX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZFHX4 Gene

Proteins for ZFHX4 Gene

  • Protein details for ZFHX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger homeobox protein 4
    Protein Accession:
    Secondary Accessions:
    • G3V138
    • Q18PS0
    • Q6ZN20

    Protein attributes for ZFHX4 Gene

    3567 amino acids
    Molecular mass:
    393730 Da
    Quaternary structure:
    No Data Available
    • Sequence=AK131408; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for ZFHX4 Gene


neXtProt entry for ZFHX4 Gene

Post-translational modifications for ZFHX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZFHX4 Gene

Domains & Families for ZFHX4 Gene

Gene Families for ZFHX4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZFHX4 Gene

Suggested Antigen Peptide Sequences for ZFHX4 Gene

GenScript: Design optimal peptide antigens:
  • ZFHX4 protein (Q5U3C1_HUMAN)
  • ZFHX4 protein (Q6DK57_HUMAN)
  • ZFHX4 protein (Q86WW5_HUMAN)
  • Zinc finger homeodomain protein 4 (ZFHX4_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZFHX4: view

Function for ZFHX4 Gene

Molecular function for ZFHX4 Gene

UniProtKB/Swiss-Prot Function:
May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ZFHX4 Gene

Gene Ontology (GO) - Molecular Function for ZFHX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with ZFHX4: view
genes like me logo Genes that share phenotypes with ZFHX4: view

Human Phenotype Ontology for ZFHX4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZFHX4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZFHX4 Gene

Localization for ZFHX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFHX4 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZFHX4 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZFHX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IBA 21873635
genes like me logo Genes that share ontologies with ZFHX4: view

Pathways & Interactions for ZFHX4 Gene

genes like me logo Genes that share pathways with ZFHX4: view

Pathways by source for ZFHX4 Gene

Interacting Proteins for ZFHX4 Gene

Gene Ontology (GO) - Biological Process for ZFHX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0045893 positive regulation of transcription, DNA-templated IBA 21873635
genes like me logo Genes that share ontologies with ZFHX4: view

No data available for SIGNOR curated interactions for ZFHX4 Gene

Drugs & Compounds for ZFHX4 Gene

No Compound Related Data Available

Transcripts for ZFHX4 Gene

mRNA/cDNA for ZFHX4 Gene

15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZFHX4

Alternative Splicing Database (ASD) splice patterns (SP) for ZFHX4 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: - - - - - -
SP2: - -
SP5: -

Relevant External Links for ZFHX4 Gene

GeneLoc Exon Structure for

Expression for ZFHX4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZFHX4 Gene

Protein differential expression in normal tissues from HIPED for ZFHX4 Gene

This gene is overexpressed in Plasma (59.7) and Heart (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZFHX4 Gene

Protein tissue co-expression partners for ZFHX4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZFHX4

SOURCE GeneReport for Unigene cluster for ZFHX4 Gene:


mRNA Expression by UniProt/SwissProt for ZFHX4 Gene:

Tissue specificity: Expressed in brain, skeletal muscle and liver. Very low expression in stomach.

Evidence on tissue expression from TISSUES for ZFHX4 Gene

  • Liver(4.7)
  • Kidney(4.4)
  • Nervous system(3.8)
  • Muscle(2.2)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZFHX4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
Head and neck:
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ZFHX4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ZFHX4 Gene

Orthologs for ZFHX4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZFHX4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ZFHX4 30 31
  • 99.43 (n)
(Canis familiaris)
Mammalia ZFHX4 30 31
  • 92.04 (n)
(Monodelphis domestica)
Mammalia ZFHX4 31
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 91 (a)
(Bos Taurus)
Mammalia ZFHX4 30 31
  • 89.76 (n)
(Rattus norvegicus)
Mammalia Zfhx4 30
  • 88.85 (n)
(Mus musculus)
Mammalia Zfhx4 30 17 31
  • 88.73 (n)
(Gallus gallus)
Aves ZFHX4 30 31
  • 85.67 (n)
(Anolis carolinensis)
Reptilia -- 31
  • 92 (a)
-- 31
  • 90 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zfhx4 30
  • 78.72 (n)
Str.9639 30
(Danio rerio)
Actinopterygii zfhx4 30 31
  • 71.87 (n)
Dr.29679 30
Fruit Fly
(Drosophila melanogaster)
Insecta zfh2 31
  • 25 (a)
(Caenorhabditis elegans)
Secernentea zfh-2 31
  • 33 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
-- 31
  • 25 (a)
Species where no ortholog for ZFHX4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ZFHX4 Gene

Gene Tree for ZFHX4 (if available)
Gene Tree for ZFHX4 (if available)
Evolutionary constrained regions (ECRs) for ZFHX4: view image

Paralogs for ZFHX4 Gene

(2) SIMAP similar genes for ZFHX4 Gene using alignment to 14 proteins:

  • E5RG79_HUMAN
  • E5RI93_HUMAN
  • G3V138_HUMAN
  • H0YC81_HUMAN
  • J3QQ66_HUMAN
  • L8E970_HUMAN
  • Q5U3C1_HUMAN
  • Q6DK57_HUMAN
  • Q86WW5_HUMAN
genes like me logo Genes that share paralogs with ZFHX4: view

Variants for ZFHX4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZFHX4 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
715619 Benign: not provided 76,778,264(+) C/T SYNONYMOUS_VARIANT
719039 Likely Benign: not provided 76,863,998(+) C/T SYNONYMOUS_VARIANT
720428 Benign: not provided 76,852,237(+) C/G SYNONYMOUS_VARIANT
722834 Benign: not provided 76,842,704(+) C/T SYNONYMOUS_VARIANT
723193 Likely Benign: not provided 76,706,182(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ZFHX4 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZFHX4 Gene

Variant ID Type Subtype PubMed ID
esv3891416 CNV gain 25118596
nsv478318 CNV novel sequence insertion 20440878

Variation tolerance for ZFHX4 Gene

Residual Variation Intolerance Score: 0.988% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.14; 90.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZFHX4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZFHX4 Gene

Disorders for ZFHX4 Gene

MalaCards: The human disease database

(17) MalaCards diseases for ZFHX4 Gene - From: GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ptosis, hereditary congenital 1
  • ptos1
congenital ptosis
marcus gunn phenomenon
  • jaw-winking
  • blepharoptosis
oculomotor nerve paralysis
  • iii nerve palsy
- elite association - COSMIC cancer census association via MalaCards
Search ZFHX4 in MalaCards View complete list of genes associated with diseases


  • Note=A chromosomal aberration involving ZFHX4 is found in one patient with ptosis. Translocation t(1;8)(p34.3;q21.12). {ECO:0000269 PubMed:11935336}.

Additional Disease Information for ZFHX4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ZFHX4: view

No data available for Genatlas for ZFHX4 Gene

Publications for ZFHX4 Gene

  1. A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. (PMID: 11935336) McMullan TW … Robinson DO (Human genetics 2002) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 41
  5. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 41

Products for ZFHX4 Gene

  • Signalway ELISA kits for ZFHX4
  • Signalway Proteins for ZFHX4

Sources for ZFHX4 Gene