Identity
HGNC
LOCATION
Xq11.2
LOCUSID
ALIAS
HCA127,KIAA1166,MCS,MRXS4,WRWF,WRWFFR,WWS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55906
MIM: 309605
HGNC: 24931
Ensembl: ENSG00000126970
Variants:
dbSNP: 55906
ClinVar: 55906
TCGA: ENSG00000126970
COSMIC: ZC4H2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000126970 | ENST00000337990 | Q9NQZ6 |
| ENSG00000126970 | ENST00000374839 | Q9NQZ6 |
| ENSG00000126970 | ENST00000447788 | Q9NQZ6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36250278 | 2023 | Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord. | 1 |
| 36250278 | 2023 | Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord. | 1 |
| 35040952 | 2022 | Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression. | 4 |
| 35040952 | 2022 | Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression. | 4 |
| 33949289 | 2021 | A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome. | 1 |
| 33949289 | 2021 | A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome. | 1 |
| 32443528 | 2020 | The Zinc-Finger Domain Containing Protein ZC4H2 Interacts with TRPV4, Enhancing Channel Activity and Turnover at the Plasma Membrane. | 5 |
| 32443528 | 2020 | The Zinc-Finger Domain Containing Protein ZC4H2 Interacts with TRPV4, Enhancing Channel Activity and Turnover at the Plasma Membrane. | 5 |
| 31206972 | 2019 | Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. | 15 |
| 31206972 | 2019 | Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. | 15 |
| 28345801 | 2017 | ZC4H2 deletions can cause severe phenotype in female carriers. | 11 |
| 28345801 | 2017 | ZC4H2 deletions can cause severe phenotype in female carriers. | 11 |
| 26056227 | 2015 | ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. | 24 |
| 26056227 | 2015 | ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. | 24 |
| 23623388 | 2013 | ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. | 29 |
Citation
Dessen P
ZC4H2 (zinc finger C4H2-type containing)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/40793/zc4h2
