| Type | Description |
|---|---|
| Definition | exocyst complex component 6B |
| Date | Results | Publications |
|---|---|---|
| 2017-07-29 11:35:00 | Homozygous nonsense variant in EXOC6B identified in two brothers with spondyloepimetaphyseal dysplasia and multiple joint dislocations syndrome. | 26669664 |
| 2015-07-25 10:34:00 | EXOC6B and the exocyst complex might play an important role in the molecular pathogenesis of intellectual disability. | 25256811 |
| 2014-01-04 10:48:00 | We report a 2p13.2 microdeletion in 2 subjects encompasing 2 genes, EXOC6B and CYP26B12 with clinical effects on cognitive function, and craniofacial and skeletal development. | 23837398 |
| 2012-08-04 11:42:00 | Data suggest that the Rabin8-Rab8-Sec15 interaction may couple the activation of Rab8 to the recruitment of the Rab8 effector and is involved in the regulation of vesicular trafficking for primary cilium formation. | 22433857 |
| 2010-01-21 00:00:00 | TNS3-EXOC6B and EXOC6B-TNS3 fusion transcripts are detected in a premature male newborn with a complex multisystemic phenotype associated with a balanced translocation. | 18424204 |
| Type | IDs |
|---|---|
| Synonymous | SEC15B, SEC15L2 |
| Gene |
UniProtKB-ID:
EXC6B_HUMAN,
A0A0U1RRB6_HUMAN
UniprotKB:
Q9Y2D4,
A0A0U1RRB6
UniParc:
UPI0000135439,
UPI000387CC09,
UPI000046995C
EMBL:
AC006461,
AC092630,
AC016770,
AC105051,
AB023136,
AC104309,
BC160001
Ensembl:
ENSG00000144036
KO:
hsa:23233
|
| Nucleutide sequences |
EMBL-CDS:
BAA76763.1
Ensembl_TRS:
ENST00000272427,
ENST00000634650
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000272427,
ENSP00000489442
RefSeq:
NP_001308658.1,
NP_056004.1,
NP_001308659.1,
NP_001308663.1,
XP_011531013.1,
XP_016859130.1,
NP_001308662.1,
NP_001308660.1,
XP_011531014.1,
XP_016859131.1,
XP_005264281.1
|
| Others |
UniRef100:
UniRef100_A0A0U1RRB6,
UniRef100_Q9Y2D4
UniRef90:
UniRef90_Q9Y2D4
UniRef50:
UniRef50_Q9Y2D4
UniGene:
Hs.303454
CCDS:
CCDS46333.1
|
| {{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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