Human Gene ZIC4 (uc003ewd.2)
  Description: Homo sapiens Zic family member 4 (ZIC4), transcript variant 3, mRNA.
RefSeq Summary (NM_032153): This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009].
Transcript (Including UTRs)
   Position: hg19 chr3:147,103,835-147,124,596 Size: 20,762 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr3:147,106,646-147,120,584 Size: 13,939 Coding Exon Count: 4 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:147,103,835-147,124,596)mRNA (may differ from genome)Protein (334 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZIC4_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein ZIC 4; AltName: Full=Zinc finger protein of the cerebellum 4;
FUNCTION: Binds to DNA (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
SIMILARITY: Belongs to the GLI C2H2-type zinc-finger protein family.
SIMILARITY: Contains 5 C2H2-type zinc fingers.
CAUTION: It is uncertain whether Met-1 is the initiator.
SEQUENCE CAUTION: Sequence=AAH29507.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 229; Sequence=AAK06845.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZIC4
Diseases sorted by gene-association score: isolated dandy-walker malformation without hydrocephalus* (25), isolated dandy-walker malformation with hydrocephalus* (25), paraneoplastic neurologic disorders (5), visceral heterotaxy (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 76.44 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 156.19 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 -140.10462-0.303 Picture PostScript Text
3' UTR -868.002811-0.309 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
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

SCOP Domains:
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on Q8N9L1
FrontTopSide
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:0046872 metal ion binding

Biological Process:
GO:0006357 regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AK124600 - Homo sapiens cDNA FLJ42609 fis, clone BRACE3013119.
AK127733 - Homo sapiens cDNA FLJ45833 fis, clone NT2RP8007715, weakly similar to Zinc finger protein ZIC4.
JD429984 - Sequence 411008 from Patent EP1572962.
AK126595 - Homo sapiens cDNA FLJ44632 fis, clone BRACE2019348, moderately similar to Zinc finger protein ZIC4.
AK094286 - Homo sapiens cDNA FLJ36967 fis, clone BRACE2006089, highly similar to ZINC FINGER PROTEIN ZIC4.
AK056394 - Homo sapiens cDNA FLJ31832 fis, clone NT2RP6000127, highly similar to Zinc finger protein ZIC 4.
AK056262 - Homo sapiens cDNA FLJ31700 fis, clone NT2RI2006071, highly similar to Zinc finger protein ZIC 4.
BC126267 - Homo sapiens Zic family member 4, mRNA (cDNA clone MGC:161545 IMAGE:8991983), complete cds.
BC136339 - Homo sapiens Zic family member 4, mRNA (cDNA clone MGC:167949 IMAGE:9020326), complete cds.
JD485280 - Sequence 466304 from Patent EP1572962.
JD184919 - Sequence 165943 from Patent EP1572962.
JD261743 - Sequence 242767 from Patent EP1572962.
JD067451 - Sequence 48475 from Patent EP1572962.
JD297116 - Sequence 278140 from Patent EP1572962.
JD462404 - Sequence 443428 from Patent EP1572962.
JD279822 - Sequence 260846 from Patent EP1572962.
JD127366 - Sequence 108390 from Patent EP1572962.
AK294831 - Homo sapiens cDNA FLJ58759 complete cds, highly similar to Zinc finger protein ZIC 4.
AK293981 - Homo sapiens cDNA FLJ59672 complete cds, highly similar to Zinc finger protein ZIC 4.
HQ258180 - Synthetic construct Homo sapiens clone IMAGE:100072489 Zic family member 4 (ZIC4), transcript variant 3 (ZIC4) gene, encodes complete protein.
AF332509 - Homo sapiens zinc family member 4 protein HZIC4 (ZIC4) mRNA, complete cds.
BC029507 - Homo sapiens Zic family member 4, mRNA (cDNA clone IMAGE:5288362), partial cds.
JD406285 - Sequence 387309 from Patent EP1572962.
JD187594 - Sequence 168618 from Patent EP1572962.
JD077749 - Sequence 58773 from Patent EP1572962.
JD263565 - Sequence 244589 from Patent EP1572962.
JD410579 - Sequence 391603 from Patent EP1572962.
JD357984 - Sequence 339008 from Patent EP1572962.
JD265024 - Sequence 246048 from Patent EP1572962.
JD143746 - Sequence 124770 from Patent EP1572962.
JD360903 - Sequence 341927 from Patent EP1572962.
JD460521 - Sequence 441545 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0AVA2, B2RMQ8, B7Z2L2, NM_032153, NP_115529, Q4G157, Q8N9L1, Q9BZ94, ZIC4_HUMAN
UCSC ID: uc003ewd.2
RefSeq Accession: NM_032153
Protein: Q8N9L1 (aka ZIC4_HUMAN)
CCDS: CCDS43160.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032153.5
exon count: 5CDS single in 3' UTR: no RNA size: 4278
ORF size: 1005CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2067.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# 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.