| Type | Description |
|---|---|
| Definition | Bardet-Biedl syndrome 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-25 12:28:00 | Authors found that within this structure, BBS2 and BBS7 form a tight dimer through a coiled-coil interaction and that BBS9 associates with the dimer via an interaction with the alpha-helical domain of BBS2. Interestingly, a BBS-associated mutation of BBS2 is located in its alpha-helical domain at the interface between BBS2 and BBS9, and binding experiments indicated that this mutation disrupts the BBS2-BBS9 interaction. | 31530639 |
| 2016-03-19 10:38:00 | A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother | 26078953 |
| 2015-09-26 16:15:00 | we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports. | 24400638 |
| 2015-05-09 12:38:00 | Our study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this genetically heterogeneous condition. | 25541840 |
| 2015-04-04 12:20:00 | Novel mutation (c.115+5G>A) in BBS2 found in Tunisian families with Bardet-Biedl syndrome. | 23432027 |
| Type | IDs |
|---|---|
| Synonymous | BBS, RP74 |
| Gene |
UniProtKB-ID:
BBS2_HUMAN
UniprotKB:
Q9BXC9
UniParc:
UPI0000052C83
EMBL:
AK027635,
AF342736,
BC014140
Ensembl:
ENSG00000125124
KO:
hsa:583
|
| Nucleutide sequences |
EMBL-CDS:
BAB55252.1,
AAK28552.1,
AAH14140.1
Ensembl_TRS:
ENST00000245157
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000245157
RefSeq:
NP_114091.4,
NP_001364385.1
|
| Others |
UniRef100:
UniRef100_Q9BXC9
UniRef90:
UniRef90_Q9BXC9
UniRef50:
UniRef50_Q9BXC9
UniGene:
Hs.333738
CCDS:
CCDS32451.1
|
| {{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