| Type | Description |
|---|---|
| Definition | human immunodeficiency virus type I enhancer binding protein 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-08-12 14:40:00 | We describe the phenotype and genotype of two additional patients with novel de novo pathogenic HIVEP2 variants, who have previously unreported features, including hyperphagia and Angelman-like features. | 31207095 |
| 2020-07-18 10:29:00 | HIVEP2-mediated transcriptional mechanisms are implicated in dopaminergic pathophysiology of substance use disorder. | 31586043 |
| 2019-10-26 11:43:00 | human miR-186, 210 and 222 directly regulate the human genes Dicer1, HRB and HIV-EP2, thus may be filling key roles during HIV-1 replication and miRNA biogenesis. | 30682089 |
| 2018-02-10 10:33:00 | Study provide further evidence that pathogenic variants in Human immunodeficiency virus type I enhancer binding protein 2 lead to intellectual disabilities and developmental delay. | 27003583 |
| 2016-12-17 11:37:00 | HIVEP2 loss-of-function mutations were identified in intellectual disability patients. | 26153216 |
| Type | IDs |
|---|---|
| Synonymous | HIV-EP2, MBP-2, MIBP1, MRD43, SHN2, ZAS2, ZNF40B |
| Gene |
UniProtKB-ID:
ZEP2_HUMAN
UniprotKB:
P31629
UniParc:
UPI00004708DD
EMBL:
M61744,
AL023584,
AF153836,
M60119,
X65644
Ensembl:
ENSG00000010818
KO:
hsa:3097
|
| Nucleutide sequences |
EMBL-CDS:
AAA36202.1,
CAA46596.1,
AAF81365.1,
AAB88218.1
Ensembl_TRS:
ENST00000012134,
ENST00000367603,
ENST00000367604
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000356575,
ENSP00000012134,
ENSP00000356576
RefSeq:
XP_024302185.1,
XP_024302186.1,
XP_016866294.1,
XP_024302184.1,
XP_024302187.1,
NP_006725.3
|
| Others |
UniRef100:
UniRef100_P31629
UniRef90:
UniRef90_P31629
UniRef50:
UniRef50_Q3UHF7
UniGene:
Hs.510172
CCDS:
CCDS43510.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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