This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in neural crest development. Elevated expression of this gene has been observed in various human cancers and may contribute to cancer progression. This gene is closely linked to a re... See more...

Aliases for ZIC5 Gene

Aliases for ZIC5 Gene

  • Zic Family Member 5 2 3 5
  • Zic Family Member 5 (Odd-Paired Homolog, Drosophila) 2 3
  • Zinc Finger Protein Of The Cerebellum 5 3 4
  • Zinc Finger Protein ZIC 5 3 4

External Ids for ZIC5 Gene

Previous GeneCards Identifiers for ZIC5 Gene

  • GC13M098977
  • GC13M095004
  • GC13M099454
  • GC13M098315
  • GC13M099415
  • GC13M100615
  • GC13M081209

Summaries for ZIC5 Gene

Entrez Gene Summary for ZIC5 Gene

  • This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in neural crest development. Elevated expression of this gene has been observed in various human cancers and may contribute to cancer progression. This gene is closely linked to a related family member on chromosome 13. [provided by RefSeq, Mar 2017]

GeneCards Summary for ZIC5 Gene

ZIC5 (Zic Family Member 5) is a Protein Coding gene. Diseases associated with ZIC5 include Holoprosencephaly and Psammomatous Meningioma. Among its related pathways are Mesodermal Commitment Pathway and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is ZIC2.

UniProtKB/Swiss-Prot Summary for ZIC5 Gene

  • Essential for neural crest development, converting cells from an epidermal fate to a neural crest cell fate. Binds to DNA (By similarity).

Additional gene information for ZIC5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZIC5 Gene

Genomics for ZIC5 Gene

GeneHancer (GH) Regulatory Elements for ZIC5 Gene

Promoters and enhancers for ZIC5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J099967 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 502.8 +1.8 1824 5.4 HNRNPK MYC ZFX ZIC2 ZNF423 ZBTB26 SAP30 CTBP1 SKI ZEB1 ZIC5 ZIC2 HSALNG0098952 piR-61950
GH13J099974 Enhancer 0.8 ENCODE dbSUPER 500.7 -1.8 -1778 0.2 ZNF341 ZFP36 EZH2 OVOL3 ZNF610 SCRT1 CBX2 PRDM6 PRDM4 MAZ ZIC5 ENSG00000288060
GH13J099978 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 29.9 -11.6 -11593 10.8 HNRNPK EP300 NRF1 TCF12 MYC PHF8 TEAD4 ZFX ZNF639 ZIC2 ZIC2 ZIC5 ENSG00000224356 ENSG00000288060 HSALNG0098958
GH13J099655 Promoter/Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 24.9 +314.0 314008 5.3 CTCF PHF8 FOXA1 REST RAD21 TRIM22 EZH2 SMC3 HDAC2 FOXA2 ZIC5 CLYBL ZIC2 LINC00449 RF00017-1478 piR-57461-066
GH13J099958 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 42.1 +12.9 12902 0.4 HDAC2 EZH2 YY1 TCF12 EGR1 CTBP2 ZNF680 SUZ12 ENSG00000286757 LOC101927437 ZIC5 ZIC2 piR-61950
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZIC5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZIC5

Top Transcription factor binding sites by QIAGEN in the ZIC5 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • E2F-3a
  • E2F-4
  • HNF-4alpha1
  • HNF-4alpha2
  • MyoD
  • Sox9

Genomic Locations for ZIC5 Gene

Genomic Locations for ZIC5 Gene
chr13:99,962,964-99,971,924
(GRCh38/hg38)
Size:
8,961 bases
Orientation:
Minus strand
chr13:100,615,218-100,624,178
(GRCh37/hg19)
Size:
8,961 bases
Orientation:
Minus strand

Genomic View for ZIC5 Gene

Genes around ZIC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZIC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZIC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZIC5 Gene

Proteins for ZIC5 Gene

  • Protein details for ZIC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T25-ZIC5_HUMAN
    Recommended name:
    Zinc finger protein ZIC 5
    Protein Accession:
    Q96T25
    Secondary Accessions:
    • Q5VYB0

    Protein attributes for ZIC5 Gene

    Size:
    663 amino acids
    Molecular mass:
    68448 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK55418.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ZIC5 Gene

Post-translational modifications for ZIC5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZIC5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZIC5 Gene

Domains & Families for ZIC5 Gene

Gene Families for ZIC5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZIC5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZIC5 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein of the cerebellum 5 (ZIC5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96T25

UniProtKB/Swiss-Prot:

ZIC5_HUMAN :
  • Belongs to the GLI C2H2-type zinc-finger protein family.
Family:
  • Belongs to the GLI C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZIC5: view

Function for ZIC5 Gene

Molecular function for ZIC5 Gene

UniProtKB/Swiss-Prot Function:
Essential for neural crest development, converting cells from an epidermal fate to a neural crest cell fate. Binds to DNA (By similarity).

Phenotypes From GWAS Catalog for ZIC5 Gene

Gene Ontology (GO) - Molecular Function for ZIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZIC5: view
genes like me logo Genes that share phenotypes with ZIC5: view

Animal Models for ZIC5 Gene

MGI Knock Outs for ZIC5:

Animal Model Products

CRISPR Products

miRNA for ZIC5 Gene

miRTarBase miRNAs that target ZIC5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZIC5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZIC5 Gene

Localization for ZIC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZIC5 Gene

Subcellular locations from

COMPARTMENTS
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 ZIC5 gene
Compartment Confidence
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with ZIC5: view

Pathways & Interactions for ZIC5 Gene

genes like me logo Genes that share pathways with ZIC5: view

Pathways by source for ZIC5 Gene

Gene Ontology (GO) - Biological Process for ZIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007417 central nervous system development IBA 21873635
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with ZIC5: view

No data available for SIGNOR curated interactions for ZIC5 Gene

Drugs & Compounds for ZIC5 Gene

No Compound Related Data Available

Transcripts for ZIC5 Gene

mRNA/cDNA for ZIC5 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 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 ZIC5

Alternative Splicing Database (ASD) splice patterns (SP) for ZIC5 Gene

No ASD Table

Relevant External Links for ZIC5 Gene

GeneLoc Exon Structure for
ZIC5

Expression for ZIC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZIC5 Gene

mRNA differential expression in normal tissues according to GTEx for ZIC5 Gene

This gene is overexpressed in Brain - Cerebellum (x21.9) and Brain - Cerebellar Hemisphere (x18.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZIC5 Gene



Protein tissue co-expression partners for ZIC5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZIC5

SOURCE GeneReport for Unigene cluster for ZIC5 Gene:

Hs.508570

Evidence on tissue expression from TISSUES for ZIC5 Gene

  • Nervous system(2)
genes like me logo Genes that share expression patterns with ZIC5: view

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZIC5 Gene

Orthologs for ZIC5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZIC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZIC5 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZIC5 31 30
  • 93.55 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zic5 30
  • 92.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZIC5 31
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zic5 17 31 30
  • 89.96 (n)
cow
(Bos Taurus)
Mammalia ZIC5 31
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZIC5 31
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZIC5 31
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia zic5-A 30
zebrafish
(Danio rerio)
Actinopterygii zic5 31
  • 67 (a)
OneToOne
Dr.27091 30
fruit fly
(Drosophila melanogaster)
Insecta lmd 32
  • 54 (a)
opa 31 32
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4381 31
  • 33 (a)
ManyToMany
Species where no ortholog for ZIC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZIC5 Gene

ENSEMBL:
Gene Tree for ZIC5 (if available)
TreeFam:
Gene Tree for ZIC5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZIC5: view image

Paralogs for ZIC5 Gene

Paralogs for ZIC5 Gene

(7) SIMAP similar genes for ZIC5 Gene using alignment to 1 proteins:

  • ZIC5_HUMAN
genes like me logo Genes that share paralogs with ZIC5: view

Variants for ZIC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZIC5 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
713917 Benign: not provided 99,970,413(-) TGGCGGCGGCGGCGGC NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION
726253 Likely Benign: not provided 99,965,707(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
787178 Likely Benign: not provided 99,970,413(-) TGGCGGCGGCGGCGGC NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION
789636 Benign: not provided 99,971,273(-) T/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs201940459 Not Provided: not provided 99,971,593(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for ZIC5 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZIC5 Gene

Variant ID Type Subtype PubMed ID
dgv345n67 CNV gain 20364138
dgv346n67 CNV gain 20364138
dgv347n67 CNV gain 20364138
esv2747875 CNV deletion 23290073
nsv1069768 CNV deletion 25765185
nsv1118272 CNV deletion 24896259
nsv1121866 CNV deletion 24896259
nsv456093 CNV loss 19166990
nsv510622 CNV deletion 20534489
nsv562952 CNV loss 21841781
nsv562953 CNV loss 21841781
nsv562954 CNV loss 21841781
nsv826757 CNV loss 20364138
nsv826766 CNV gain 20364138
nsv832697 CNV loss 17160897

Variation tolerance for ZIC5 Gene

Gene Damage Index Score: 3.67; 57.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZIC5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZIC5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZIC5 Gene

Disorders for ZIC5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ZIC5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
holoprosencephaly
  • holoprosencephaly sequence
psammomatous meningioma
dandy-walker syndrome
  • dws
neural tube defects
  • neural tube defects, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search ZIC5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ZIC5

genes like me logo Genes that share disorders with ZIC5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZIC5 Gene

Publications for ZIC5 Gene

No publications were found for ZIC5 Gene.

Products for ZIC5 Gene

Sources for ZIC5 Gene