Human Gene ZFHX4 (uc003yaw.1) Description and Page Index
  Description: Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr8:77,616,278-77,768,544 Size: 152,267 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr8:77,616,324-77,768,544 Size: 152,221 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:77,616,278-77,768,544)mRNA (may differ from genome)Protein (3084 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Zinc finger homeobox protein 4; AltName: Full=Zinc finger homeodomain protein 4; Short=ZFH-4;
FUNCTION: May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation.
TISSUE SPECIFICITY: Expressed in brain, skeletal muscle and liver. Very low expression in stomach.
DISEASE: Note=A chromosomal aberration involving ZFHX4 is found in one patient with ptosis. Translocation t(1;8)(p34.3;q21.12).
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 20 C2H2-type zinc fingers.
SIMILARITY: Contains 4 homeobox DNA-binding domains.
SEQUENCE CAUTION: Sequence=AK131408; Type=Frameshift; Positions=338;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ZFHX4
CDC HuGE Published Literature: ZFHX4
Positive Disease Associations: Body Height , height , Lipoproteins, VLDL
Related Studies:
  1. Body Height
    , , . [PubMed 0]
  2. height
    Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15. [PubMed 18391951]
  3. Lipoproteins, VLDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ZFHX4
Diseases sorted by gene-association score: ptosis, congenital* (64), ptosis (15), chromosome 8q21.11 deletion syndrome (12), sclerocornea (6), pineal gland cancer (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.47 RPKM in Cells - Transformed fibroblasts
Total median expression: 57.85 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.2046-0.157 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd
IPR003604 - Znf_U1

Pfam Domains:
PF00046 - Homeobox domain
PF00096 - Zinc finger, C2H2 type
PF12874 - Zinc-finger of C2H2 type
PF13912 - C2H2-type zinc finger

SCOP Domains:
101447 - Formin homology 2 domain (FH2 domain)
46689 - Homeodomain-like
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on Q86UP3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus

-  Descriptions from all associated GenBank mRNAs
  AK131408 - Homo sapiens cDNA FLJ16514 fis, clone MESAN2014412.
AB083343 - Homo sapiens ZFH-4 mRNA for zinc-finger homeodomain protein 4, complete cds.
AY260762 - Homo sapiens zinc finger homeodomain 4 protein mRNA, complete cds.
AK095274 - Homo sapiens cDNA FLJ37955 fis, clone CTONG2009395, highly similar to Mus musculus zfh-4 mRNA for zinc-finger homeodomain protein 4.
CR933619 - Homo sapiens mRNA; cDNA DKFZp686I1450 (from clone DKFZp686I1450).
JD428792 - Sequence 409816 from Patent EP1572962.
JD461750 - Sequence 442774 from Patent EP1572962.
JD138645 - Sequence 119669 from Patent EP1572962.
JD413991 - Sequence 395015 from Patent EP1572962.
JD074641 - Sequence 55665 from Patent EP1572962.
JD050189 - Sequence 31213 from Patent EP1572962.
JD146780 - Sequence 127804 from Patent EP1572962.
JD187248 - Sequence 168272 from Patent EP1572962.
JD521294 - Sequence 502318 from Patent EP1572962.
BX649074 - Homo sapiens mRNA; cDNA DKFZp779D1357 (from clone DKFZp779D1357).
AK131399 - Homo sapiens cDNA FLJ16492 fis, clone CTONG2028758, highly similar to Mus musculus zfh-4 mRNA for zinc-finger homeodomain protein 4.
JD209975 - Sequence 190999 from Patent EP1572962.
AK131462 - Homo sapiens cDNA FLJ16624 fis, clone TESTI4015442, moderately similar to Mus musculus zinc finger homeodomain 4 (Zfh4-pending).
BC085610 - Homo sapiens zinc finger homeobox 4, mRNA (cDNA clone IMAGE:30708384), partial cds.
BC047745 - Homo sapiens zinc finger homeobox 4, mRNA (cDNA clone IMAGE:6474208), partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: AY260762, NM_024721, NP_078997, Q18PS0, Q6ZN20, Q86UP3, ZFHX4_HUMAN
UCSC ID: uc003yaw.1
RefSeq Accession: NM_024721
Protein: Q86UP3 (aka ZFHX4_HUMAN)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: AY260762.1
exon count: 9CDS single in 3' UTR: no RNA size: 12103
ORF size: 9252CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 14335.50frame shift in genome: no % Coverage: 76.77
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 8# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.