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Zc4h2 zinc finger, C4H2 domain containing [ Mus musculus (house mouse) ]

Gene ID: 245522, updated on 27-Nov-2024

Summary

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Official Symbol
Zc4h2provided by MGI
Official Full Name
zinc finger, C4H2 domain containingprovided by MGI
Primary source
MGI:MGI:2679294
See related
Ensembl:ENSMUSG00000035062 AllianceGenome:MGI:2679294
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gm372; mKIAA1166
Summary
Predicted to enable metal ion binding activity. Acts upstream of or within noradrenergic neuron development; positive regulation of DNA-binding transcription factor activity; and protein monoubiquitination. Located in neuronal cell body. Is expressed in metencephalon basal plate; nervous system; and neural retina. 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, Nov 2024]
Expression
Biased expression in whole brain E14.5 (RPKM 17.7), CNS E14 (RPKM 16.9) and 9 other tissues See more
Orthologs
human all
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Genomic context

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See Zc4h2 in Genome Data Viewer
Location:
X C3; X 41.99 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (94682793..94702115, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (95639187..95658509, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene ring finger and WD repeat domain 2 pseudogene Neighboring gene ankyrin repeat and SOCS box-containing 12 Neighboring gene STARR-seq mESC enhancer starr_47573 Neighboring gene STARR-seq mESC enhancer starr_47574 Neighboring gene adenylosuccinate lyase pseudogene Neighboring gene predicted gene, 29889

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Loss of ZC4H2, an Arthrogryposis Multiplex Congenita Associated Gene, Promotes Osteoclastogenesis in Mice. Zhu L, et al. Genes (Basel), 2024 Aug 28. PMID 39336725, Free PMC Article
  2. Loss of ZC4H2 and RNF220 Inhibits Neural Stem Cell Proliferation and Promotes Neuronal Differentiation. Zhang L, et al. Cells, 2020 Jul 1. PMID 32630355, Free PMC Article
  3. ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved in neural development in Xenopus. Ma P, et al. Open Biol, 2017 Aug. PMID 28814648, Free PMC Article
  4. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Hirata H, et al. Am J Hum Genet, 2013 May 2. PMID 23623388, Free PMC Article
  5. Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development. Song NN, et al. Development, 2020 Mar 30. PMID 32094113

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of ZC4H2, an Arthrogryposis Multiplex Congenita Associated Gene, Promotes Osteoclastogenesis in Mice.
    Title: Loss of ZC4H2, an Arthrogryposis Multiplex Congenita Associated Gene, Promotes Osteoclastogenesis in Mice.
  2. ZC4H2 stabilizes RNF220 to pattern ventral spinal cord through modulating Shh/Gli signaling.
    Title: ZC4H2 stabilizes RNF220 to pattern ventral spinal cord through modulating Shh/Gli signaling.
  3. Loss of ZC4H2 and RNF220 Inhibits Neural Stem Cell Proliferation and Promotes Neuronal Differentiation.
    Title: Loss of ZC4H2 and RNF220 Inhibits Neural Stem Cell Proliferation and Promotes Neuronal Differentiation.
  4. Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development.
    Title: Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development.
  5. RNF220 interacts with, and is co-expressed with, a zinc-finger protein ZC4H2, and they cooperate to degrade Dbx1/2 and Nkx2.2. Co-expression of RNF220 and ZC4H2 further promotes the ability of Nkx6.1 to induce ectopic Chx10+ V2 interneurons.
    Title: Rnf220 cooperates with Zc4h2 to specify spinal progenitor domains.
  6. Results demonstrate that ZC4H2 promotes BMP signaling and is involved in BMP regulated myogenic and osteogenic differentiation of mouse myoblast cells.
    Title: ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved in neural development in Xenopus.
  7. In mouse primary hippocampal neurons, transiently produced ZC4H2 localized to the postsynaptic compartment of excitatory synapses, and the altered protein influenced dendritic spine density.
    Title: ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1166, MGC105164

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in nervous system development ISO
Inferred from Sequence Orthology
more info
  
involved_in nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neuromuscular junction development ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within noradrenergic neuron development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of DNA-binding transcription factor activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within positive regulation of DNA-binding transcription factor activity ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within protein monoubiquitination IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within protein monoubiquitination ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within regulation of transcription regulatory region DNA binding IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within regulation of transcription regulatory region DNA binding ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in spinal cord motor neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in postsynaptic membrane ISO
Inferred from Sequence Orthology
more info
  
located_in postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of protein-containing complex 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

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.

mRNA and Protein(s)

  1. NM_001003916.2 → NP_001003916.1  zinc finger C4H2 domain-containing protein isoform 1

    See identical proteins and their annotated locations for NP_001003916.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI844550, BC079862, BY200912
    Consensus CDS
    CCDS30284.1
    UniProtKB/Swiss-Prot
    B1AUU6, Q3TSJ9, Q3U274, Q504M3, Q68FG0, Q6ZPW6
    Related
    ENSMUSP00000041236.7, ENSMUST00000044382.7
    Conserved Domains (1) summary
    pfam10146
    Location:13 → 221
    zf-C4H2; Zinc finger-containing protein

  2. NM_001289696.1 → NP_001276625.1  zinc finger C4H2 domain-containing protein isoform 2

    See identical proteins and their annotated locations for NP_001276625.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. This results in a shorter isoform (2) that has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI844550, AL671982, BC079862, BY200912
    Consensus CDS
    CCDS81154.1
    UniProtKB/TrEMBL
    Q05BE0
    Related
    ENSMUSP00000112449.2, ENSMUST00000120620.8
    Conserved Domains (1) summary
    pfam10146
    Location:13 → 130
    zf-C4H2; Zinc finger-containing protein

  3. NM_001289697.1 → NP_001276626.1  zinc finger C4H2 domain-containing protein isoform 3

    See identical proteins and their annotated locations for NP_001276626.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter isoform (3), compared to isoform 3.
    Source sequence(s)
    AI844550, BC079862, BY200912
    Consensus CDS
    CCDS81153.1
    UniProtKB/Swiss-Prot
    Q68FG0
    Related
    ENSMUSP00000113689.2, ENSMUST00000119640.8
    Conserved Domains (1) summary
    pfam10146
    Location:13 → 214
    zf-C4H2; Zinc finger-containing protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    94682793..94702115 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011247587.4 → XP_011245889.1  zinc finger C4H2 domain-containing protein isoform X1

    See identical proteins and their annotated locations for XP_011245889.1

    Conserved Domains (1) summary
    pfam10146
    Location:17 → 224
    zf-C4H2; Zinc finger-containing protein
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q68FG0.1 GenPept UniProtKB/Swiss-Prot:Q68FG0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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