| Type | Description |
|---|---|
| Definition | Bardet-Biedl syndrome 7 |
| 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 |
| 2020-04-18 10:21:00 | A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family. | 31469663 |
| 2018-04-14 10:48:00 | Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome. | 28761321 |
| 2017-06-24 11:27:00 | Sequence variants in BBS7 were identified in families with CRB2-related syndrome. | 27004616 |
| 2016-11-19 12:03:00 | BBS7 gene was a novel variant (c.103-1G>A) in the consensus splice acceptor site, which altered the splicing recognition site of 'AG' to 'AA' at the BBS7 gene intron 2 and exon 3 boundary. | 25553308 |
| Type | IDs |
|---|---|
| Synonymous | BBS2L1 |
| Gene |
UniProtKB-ID:
BBS7_HUMAN
UniprotKB:
Q8IWZ6
UniParc:
UPI000006EA94,
UPI00001684D7
EMBL:
AF521644,
BC032691,
AC079341,
AK001577,
AF521643
Ensembl:
ENSG00000138686
KO:
hsa:55212
|
| Nucleutide sequences |
EMBL-CDS:
AAY40970.1,
BAA91767.1,
AAO16025.1,
AAO16026.1,
AAH32691.1
Ensembl_TRS:
ENST00000264499,
ENST00000506636
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000264499,
ENSP00000423626
RefSeq:
NP_060660.2,
XP_011530381.1,
XP_016863846.1,
XP_016863847.1,
NP_789794.1,
XP_005263163.1,
XP_011530383.1,
XP_011530382.1
|
| Others |
UniRef100:
UniRef100_Q8IWZ6
UniRef90:
UniRef90_Q8IWZ6
UniRef50:
UniRef50_Q8IWZ6
UniGene:
Hs.591694
CCDS:
CCDS54799.1,
CCDS3724.1
|
| {{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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