| Type | Description |
|---|---|
| Definition | immunoglobulin mu binding protein 2 |
| Date | Results | Publications |
|---|---|---|
| 2019-03-16 12:57:00 | Ighmbp2 deficiency results in local but modest disruption of protein biosynthesis which might contribute to motor neuron defects seen in SMARD1. | 29928949 |
| 2010-02-08 11:48:00 | These data emphasize that neuromuscular degeneration as a result of Ighmbp2 mutation will compromise several critical parameters of bone quantity and architecture, the most severe occurring in the trabecular compartment. | 19949279 |
| 2010-01-21 00:00:00 | IGHMBP2 is functionally linked to translation, and that mutations in its helicase domain interfere with this function in distal spinal muscular atrophy type 1 patients. | 19158098 |
| 2010-01-21 00:00:00 | Ighmbp2 protein levels are strongly reduced in neuromuscular degeneration (nmd) mice, the mouse model of SMARD1. | 15269181 |
| 2010-01-21 00:00:00 | Double-transgenic nmd mice expressing Ighmbp2 both in myocytes and in neurons display correction of both dilated cardiomyopathy and motor neuron disease. | 16174646 |
| Type | IDs |
|---|---|
| Synonymous | AEP, Catf1, RIPE3b1, Smbp-2, Smbp2, Smubp2, nmd, sma |
| Gene |
UniProtKB-ID:
A0A0B4J1E3_MOUSE
UniprotKB:
A0A0B4J1E3
UniParc:
UPI000002245B
EMBL:
AC148174,
AL626765
Ensembl:
ENSMUSG00000024831
KO:
mmu:20589
|
| Nucleutide sequences |
Ensembl_TRS:
ENSMUST00000025751
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000025751
RefSeq:
NP_033238.2,
XP_036017390.1
|
| Others |
UniRef100:
UniRef100_A0A0B4J1E3
UniRef90:
UniRef90_P40694
UniRef50:
UniRef50_P40694
UniGene:
Mm.3179
|
| {{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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