zc4h2 zinc finger, C4H2 domain containing [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: zc4h2provided by ZNC
Official Full Name: zinc finger, C4H2 domain containingprovided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-2207
See related: Ensembl:ENSDARG00000015314 AllianceGenome:ZFIN:ZDB-GENE-030131-2207
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:63849; wu:fb99f08
Summary: 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 Miles-Carpenter syndrome. Orthologous to human ZC4H2 (zinc finger C4H2-type containing). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 5

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	5	NC_007116.7 (22073710..22082829, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	5	NC_007116.6 (21569910..21579029, complement)

Chromosome 5 - NC_007116.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Title: Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Antisense-morpholino-mediated zc4h2 knockdown caused abnormal swimming and impaired alpha-motoneuron development.
Title: ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spinal cord motor neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within swimming behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: zinc finger C4H2 domain-containing protein

Names: hepatocellular carcinoma-associated antigen 127 homolog; un-named hi2729b; unm hi2729b

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.