| Type | Description |
|---|---|
| Definition | tetratricopeptide repeat domain 8 |
| Date | Results | Publications |
|---|---|---|
| 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 |
| 2010-12-05 22:08:00 | Observational study of genetic testing. (HuGE Navigator) | 20801516 |
| 2010-06-28 11:42:00 | A splice-site mutation in a retina-specific exon of TTC8 causes nonsyndromic retinitis pigmentosa. | 20451172 |
| 2010-01-21 00:00:00 | small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients | 19402160 |
| 2010-01-21 00:00:00 | A homozygous null BBS8 mutation leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry, a known defect of the nodal cilium | 14520415 |
| Type | IDs |
|---|---|
| Synonymous | BBS8, RP51 |
| Gene |
UniProtKB-ID:
TTC8_HUMAN,
A0A0C4DGH8_HUMAN,
A0A0C4DGX9_HUMAN,
B3KSL8_HUMAN,
A0A0C4DGY3_HUMAN,
Q86U25_HUMAN
UniprotKB:
Q8TAM2,
A0A0C4DGH8,
A0A0C4DGX9,
B3KSL8,
A0A0C4DGY3,
Q86U25
UniParc:
UPI00001B3DD9,
UPI0000447156,
UPI0000071182,
UPI00001B3DD8,
UPI00001B3DD7,
UPI0001E24F4B,
UPI0001E24F4C,
UPI00020B16FE,
UPI00003E2A43,
UPI000000CBE3
EMBL:
AY366524,
BX161472,
AY366523,
AY373972,
AK124675,
BC026351,
BC095433,
AL121768,
KU178850,
BX248248,
KU178849,
AK093891,
BX247959,
CH471061,
AL833901,
KU178851,
BX248071,
BC001563,
AL133238
Ensembl:
ENSG00000165533
KO:
hsa:123016
|
| Nucleutide sequences |
EMBL-CDS:
AAH01563.1,
AAR02192.1,
AAR02193.1,
CAD62576.1,
AAH26351.1,
CAD61928.1,
BAG54067.1,
CAD38757.2,
AAH95433.1,
CAD62360.1,
EAW81400.1,
AAR19043.1,
EAW81402.1,
EAW81401.1,
ALQ34309.1,
EAW81397.1,
ALQ34307.1,
BAG52780.1,
EAW81395.1,
ALQ34308.1,
CAD62299.1,
EAW81398.1
Gene_ORFName:
hCG_21081,
hCG_21081,
hCG_21081,
hCG_21081
Ensembl_TRS:
ENST00000380656,
ENST00000345383,
ENST00000354441,
ENST00000346301,
ENST00000338104,
ENST00000622513,
ENST00000556077
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000346427,
ENSP00000339486,
ENSP00000370031,
ENSP00000298324,
ENSP00000337653,
ENSP00000482721,
ENSP00000451034
RefSeq:
NP_001275710.1,
XP_011534736.1,
NP_938052.1,
NP_653197.2,
XP_024305245.1,
NP_938051.1,
XP_011534735.1,
NP_001275712.1,
NP_001275711.1,
NP_001353465.1,
NP_001353464.1
|
| Others |
UniRef100:
UniRef100_Q8TAM2,
UniRef100_Q86U25,
UniRef100_A0A0C4DGH8,
UniRef100_A0A0C4DGX9,
UniRef100_A0A0C4DGY3
UniRef90:
UniRef90_Q86U25,
UniRef90_Q8VD72,
UniRef90_Q8TAM2
UniRef50:
UniRef50_Q86U25,
UniRef50_Q8VD72
UniGene:
Hs.303055
CCDS:
CCDS32137.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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