| Type | Description |
|---|---|
| Definition | zinc finger C4H2-type containing |
| Date | Results | Publications |
|---|---|---|
| 2021-02-27 13:50:00 | The Zinc-Finger Domain Containing Protein ZC4H2 Interacts with TRPV4, Enhancing Channel Activity and Turnover at the | 32443528 |
| 2020-05-09 11:32:00 | Study reports on the genetic and clinical findings of 23 novel families and simplex cases of patients with arthrogryposis multiplex congenita (AMC). Deleterious inherited or de novo ZC4H2 variants were identified in males and females, including de novo partial ZC4H2 micro-deletions present in affected females only. | 31206972 |
| 2017-05-13 14:53:00 | The present patient confirms that female carriers can also be severely affected. Systematic clinical investigations of both males and females are needed to define the variety in nature and severity of phenotypes related to ZC4H2 variants. | 28345801 |
| 2016-05-14 12:04:00 | ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons | 26056227 |
| 2013-07-06 10:02:00 | ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. | 23623388 |
| Type | IDs |
|---|---|
| Synonymous | HCA127, KIAA1166, MRXS4, WRWF, WWS |
| Gene |
UniProtKB-ID:
ZC4H2_HUMAN
UniprotKB:
Q9NQZ6
UniParc:
UPI00017A6D28,
UPI0000EE6EC5,
UPI0000072A6A,
UPI00001D8A6A,
UPI0000025CAA
EMBL:
AK123763,
AK022807,
CH471132,
AK293570,
AL355606,
AB032992,
BC004411,
AK315485,
AK222708,
AF270491,
AK022918
Ensembl:
ENSG00000126970
KO:
hsa:55906
|
| Nucleutide sequences |
EMBL-CDS:
BAD96428.1,
BAB14252.1,
AAF75787.1,
BAG53957.1,
BAB14308.1,
EAX05409.1,
BAG57041.1,
EAX05408.1,
BAG37869.1,
BAA86480.1,
AAH04411.1
Ensembl_TRS:
ENST00000374839,
ENST00000337990,
ENST00000447788
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000399126,
ENSP00000338650,
ENSP00000363972
RefSeq:
NP_001171504.1,
NP_061154.1,
NP_001230733.1,
NP_001171503.1
|
| Others |
UniRef100:
UniRef100_Q9NQZ6
UniRef90:
UniRef90_Q9NQZ6
UniRef50:
UniRef50_Q9NQZ6
UniGene:
Hs.28249
CCDS:
CCDS55431.1,
CCDS14380.1,
CCDS55432.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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