| Type | Description |
|---|---|
| Definition | immunoglobulin mu DNA binding protein 2 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-07 12:26:00 | We identified a paternally derived splice donor site mutation and a maternally derived missense mutation of IGHMBP2 | 29575095 |
| 2019-01-19 10:26:00 | UPF1, a highly processive helicase central to nonsense-mediated mRNA decay (NMD), tightly holds onto NA, allowing long lasting action. Conversely, the structurally similar IGHMBP2 helicase has a short residence time. | 30218034 |
| 2018-03-24 11:14:00 | detected IGHMBP2 mutations in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients; four mutations, c.1489G > A, c.2356delG, c.2597_2598delAG and c.1061-2A > G, are reported for the first time | 28065684 |
| 2018-01-20 11:33:00 | We present the original report of Charcot-Marie-Tooth disease (CMT) type 2S in Japan, and illustrate that recessive IGHMBP2 variants account for ~1.6% of axonal CMT in our cohort. | 28202949 |
| 2017-01-14 11:35:00 | Case report and review of 20 reported spinal muscular atrophy with respiratory distress type I cases that have no respiratory involvement or have late onsets, propose that IGHMBP2 gene mutations are characterized by significant phenotypic heterogeneity | 26922252 |
| Type | IDs |
|---|---|
| Synonymous | CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7 |
| Gene |
UniProtKB-ID:
SMBP2_HUMAN
UniprotKB:
P38935
UniParc:
UPI000013CE82
EMBL:
L24544,
AP000808,
L14754,
BC025299,
M64979
Ensembl:
ENSG00000132740
KO:
hsa:3508
|
| Nucleutide sequences |
EMBL-CDS:
AAA70430.1,
AAH25299.1,
AAA58611.1,
AAA53082.1
Ensembl_TRS:
ENST00000255078
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000255078
RefSeq:
XP_005274032.1,
XP_016873160.1,
XP_005274031.1,
XP_016873158.1,
XP_011543296.1,
XP_005274033.1,
XP_016873159.1,
NP_002171.2
|
| Others |
UniRef100:
UniRef100_P38935
UniRef90:
UniRef90_P38935
UniRef50:
UniRef50_P38935
UniGene:
Hs.503048
CCDS:
CCDS8187.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员