| Type | Description |
|---|---|
| Definition | IQ motif and Sec7 domain 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-27 12:26:00 | Human and mouse data reaffirm IQSEC2 as another disease gene with an unexpected X-chromosome heterozygous female phenotype. Our Iqsec2 mouse model recapitulates the phenotypes observed in human patients despite the differences in the IQSEC2/Iqsec2 gene X-chromosome inactivation between the species. | 31439632 |
| 2020-03-07 10:54:00 | There is a growing number of female patients with de novo loss-of-function variants in IQSEC2 have a more severe phenotype than the heterozygous state would predict, particularly if IQSEC2 is thought to escape X-inactivation. | 30328660 |
| 2019-12-14 12:04:00 | This article reviews neuronal IQSEC2 signaling with emphasis on those aspects likely to be involved in autism. [review] | 31234416 |
| 2019-06-23 00:16:00 | This study provides a comprehensive overview of IQSEC2-related encephalopathy in males and females, and suggests that an accurate dosage of IQSEC2 at the synapse is crucial during normal brain development | 30206421 |
| 2018-02-10 11:09:00 | IQSEC2 mutation is associated with syndromic intellectual disability. | 28815955 |
| Type | IDs |
|---|---|
| Synonymous | BRAG1, IQ-ArfGEF, MRX1, MRX18, MRX78 |
| Gene |
UniProtKB-ID:
IQEC2_HUMAN
UniprotKB:
Q5JU85
UniParc:
UPI00001C207D,
UPI0000D9F44A,
UPI000044D37E
EMBL:
AK095232,
AC245102,
AL161779,
AL139396,
AB011094,
FJ154891
Ensembl:
ENSG00000124313
KO:
hsa:23096
|
| Nucleutide sequences |
EMBL-CDS:
BAA25448.1,
BAG53009.1,
CAI42091.1,
ACR15956.1
Ensembl_TRS:
ENST00000375365,
ENST00000642864,
ENST00000639161
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000491796,
ENSP00000364514,
ENSP00000495726
RefSeq:
XP_011529076.1,
NP_001104595.1,
XP_006724647.1,
NP_055890.1,
XP_011529078.1,
XP_016884848.1,
XP_016884849.1,
XP_006724644.1,
XP_011529075.1,
XP_011529079.1,
NP_001230126.1,
XP_006724643.1,
XP_006724645.1,
XP_006724646.1,
XP_006724642.1
|
| Others |
UniRef100:
UniRef100_Q5JU85
UniRef90:
UniRef90_Q5JU85
UniRef50:
UniRef50_Q5JU85
UniGene:
Hs.496138
CCDS:
CCDS87748.1,
CCDS35298.1,
CCDS48130.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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