| Type | Description |
|---|---|
| Definition | Bardet-Biedl syndrome 5 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:15:00 | BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. | 33572860 |
| 2020-02-29 11:32:00 | Two family mmbers (a 11-year-0ld male and a 19-year-old female) were found with homozygous splicing site variant c.208+2T>C in the BBS5 gene in an Iranian family. | 30850397 |
| 2017-01-28 11:19:00 | The role of PITX2 in glaucoma may be mediated partly by regulating the expression of CXCL6 and BBS5 and thus affecting immune functions and intraocular pressure. | 27520585 |
| 2016-07-30 11:05:00 | analysis of a novel splice variant of BBS5 that appears to be expressed only in the retina | 26867008 |
| 2010-12-05 22:08:00 | Observational study of genetic testing. (HuGE Navigator) | 20801516 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
BBS5_HUMAN,
A0A0S2Z626_HUMAN
UniprotKB:
Q8N3I7,
A0A0S2Z626
UniParc:
UPI000035E8A5,
UPI000000DA9B
EMBL:
AY604004,
AL834305,
CH471058,
AC093899,
AY604003,
BC044593,
KU178857
Ensembl:
ENSG00000163093
KO:
hsa:129880
|
| Nucleutide sequences |
EMBL-CDS:
CAD38975.1,
AAT08182.1,
AAH44593.1,
AAT08183.1,
AAY24116.1,
EAX11279.1,
EAX11276.1,
ALQ34315.1
Ensembl_TRS:
ENST00000295240,
ENST00000392663
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000295240,
ENSP00000376431
RefSeq:
NP_689597.1
|
| Others |
UniRef100:
UniRef100_Q8N3I7
UniRef90:
UniRef90_Q8N3I7
UniRef50:
UniRef50_Q8N3I7
UniGene:
Hs.233398
CCDS:
CCDS2233.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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