Gene

zc4h2

ID
ZDB-GENE-030131-2207
Name
zinc finger, C4H2 domain containing
Symbol
zc4h2 Nomenclature History
Previous Names
  • un-named hi2729b
  • unm hi2729b
  • wu:fb99f08
  • zgc:63849
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to enable metal ion binding activity. Involved in neuromuscular junction development; positive regulation of neuron differentiation; and spinal cord motor neuron differentiation. Acts upstream of or within neuromuscular process controlling balance; neuron differentiation; and swimming behavior. Located in nucleus. Is expressed in nervous system. Used to study epilepsy. Human ortholog(s) of this gene implicated in Wieacker-Wolff syndrome and female-restricted Wieacker-Wolff syndrome. Orthologous to human ZC4H2 (zinc finger C4H2-type containing).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
13 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
ck035aAllele with one deletionUnknownFrameshiftTALEN
ck035bAllele with one deletionUnknownFrameshiftTALEN
hi2729bTgTransgenic insertionExon 1UnknownDNA
sa33577Allele with one point mutationUnknownSplice SiteENU
sa38464Allele with one point mutationUnknownSplice SiteENU
sdu26Allele with one delinsExon 2UnknownCRISPR
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Sequence Targeting Reagents
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Human Disease
Associated With zc4h2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
female-restricted Wieacker-Wolff syndrome Alliance Wieacker-Wolff syndrome, female-restricted 301041
Wieacker-Wolff syndrome Alliance Wieacker-Wolff syndrome 314580
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Associated With zc4h2 Via Experimental Models
Human Disease Fish Conditions Citations
epilepsy WT + MO2-zc4h2 standard conditions Hwang et al., 2020
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Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR044069 Zinc finger C4H2-type
Family IPR018482 Zinc finger C4H2 domain-containing protein
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Domain Details Per Protein
Protein Additional Resources Length Zinc finger C4H2 domain-containing protein Zinc finger C4H2-type
UniProtKB:Q7T3I0 InterPro 224
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 5
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA zc4h2-201 (1) Ensembl 1,737 nt
ncRNA zc4h2-002 (1) Ensembl 627 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-286F3ZFIN Curated Data
EncodesESTfb99f08
EncodesESTIMAGE:6908809Thisse et al., 2004
EncodescDNAMGC:63849ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanZC4H2X
Functional complementation (1)
Conserved genome location (synteny) (3)
Amino acid sequence comparison (4)
MouseZc4h2X
Amino acid sequence comparison (3)
Conserved genome location (synteny) (2)
Functional complementation (1)
Citations
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