| Type | Description |
|---|---|
| Definition | zinc finger protein 462 |
| Date | Results | Publications |
|---|---|---|
| 2020-08-13 13:46:00 | a multiple congenital anomaly syndrome associated with haploinsufficiency of ZNF462 that has distinct clinical characteristics and facial features, is reported. | 31361404 |
| 2018-10-13 12:12:00 | In the current study we describe a patient with a syndromic form of autism spectrum disorder and intellectual disability characterized by metopic craniosynostosis, ptosis and corpus callosum dysgenesis most likely caused by ZNF462 haploinsufficiency. The possible contribution of the disruption of KLF12 by one of the translocation breakpoints remains unclear. | 29427787 |
| 2017-12-16 12:07:00 | Loss of function variants in ZNF462 were identified in patients with ptosis, metopic ridging, craniosynostosis, dysgenesis of the corpus callosum, and developmental delay. | 28513610 |
| 2013-02-16 11:29:00 | Zinc finger protein 462 (ZNF462) is the first human O-GlcNAc-6-phosphate modified protein. | 22826440 |
| 2010-09-15 22:05:00 | Observational study of gene-disease association. (HuGE Navigator) | 20546612 |
| Type | IDs |
|---|---|
| Synonymous | ZFPIP, Zfp462 |
| Gene |
UniProtKB-ID:
ZN462_HUMAN,
Q63HJ5_HUMAN
UniprotKB:
Q96JM2,
Q63HJ5
UniParc:
UPI000022D968,
UPI00004409BA,
UPI000006F0ED,
UPI0000470106
EMBL:
BC036884,
AB058706,
AL512593,
AK027866,
BX648965
Ensembl:
ENSG00000148143
KO:
hsa:58499
|
| Nucleutide sequences |
EMBL-CDS:
BAB47432.2,
AAH36884.1,
CAH56168.1
Ensembl_TRS:
ENST00000277225,
ENST00000441147
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000277225,
ENSP00000397306
RefSeq:
XP_006717278.1,
XP_016870486.1,
XP_006717275.1,
XP_024303397.1,
XP_016870485.1,
XP_006717279.1,
NP_001334926.1,
XP_016870487.1,
XP_006717272.1,
NP_067047.4,
XP_006717281.1,
XP_006717274.1
|
| Others |
UniRef100:
UniRef100_Q96JM2,
UniRef100_Q63HJ5
UniRef90:
UniRef90_Q96JM2,
UniRef90_Q63HJ5
UniRef50:
UniRef50_Q96JM2
UniGene:
Hs.370379
CCDS:
CCDS35096.1
|
| {{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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