| Type | Description |
|---|---|
| Definition | trafficking protein particle complex 2 |
| Date | Results | Publications |
|---|---|---|
| 2019-10-05 10:58:00 | Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases | 31053099 |
| 2015-11-21 10:28:00 | c.93+5G>A mutation in the TRAPPC2 gene is associated with X-linked spondyloepiphyseal dysplasia in a Chinese family. | 26252088 |
| 2015-05-16 11:41:00 | a novel hemizygous mutation, c.341-(11_9)delAAT, in an intron of TRAPPC caused spondyloepiphyseal dysplasia tarda | 23656395 |
| 2015-02-14 12:59:00 | Data suggest that c.267_271delAAGAC frameshift mutation of the exon 5 of the spondyloepiphyseal dysplasia, late protein (SEDL) gene probably underlies the disease in the family. | 25297591 |
| 2014-12-20 10:16:00 | identification of the novel nonsense mutation (c.61G>T) in the SEDT family enables carrier detection, genetic counseling, and prenatal diagnosis. | 24841781 |
| Type | IDs |
|---|---|
| Synonymous | MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334 |
| Gene |
UniProtKB-ID:
TPC2B_HUMAN,
TPC2A_HUMAN,
Q6IBE5_HUMAN
UniprotKB:
P0DI82,
P0DI81,
Q6IBE5
UniParc:
UPI000000162E,
UPI00018926ED,
UPI0001CA7E6C
EMBL:
AK310542,
AK313736,
CR456859,
DA542477,
CH471074,
AF157065,
CH471135,
AF291676,
BC032809,
AF157064,
AF157062,
AF058918,
BC008889,
DB101396,
AF157063,
AC003002,
BC052618,
BC016915,
AC003037
Ensembl:
ENSG00000196459,
ENSG00000256060
KO:
hsa:6399
|
| Nucleutide sequences |
EMBL-CDS:
AAC14421.1,
AAB80684.1,
AAG02469.1,
AAH16915.1,
AAH52618.1,
AAD49845.1,
EAW98830.1,
BAG36477.1,
EAW72496.1,
EAW98831.1,
EAW98832.1,
EAW72495.1,
EAW98834.1,
CAG33140.1,
EAW98829.1
Gene_ORFName:
hCG_73092,
hCG_19694
Ensembl_TRS:
ENST00000543226,
ENST00000596755,
ENST00000380579,
ENST00000458511,
ENST00000359680
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000469888,
ENSP00000442778,
ENSP00000392495,
ENSP00000369953,
ENSP00000352708
RefSeq:
NP_001122307.2,
NP_055378.1,
NP_001011658.1,
XP_011543868.1,
XP_011543867.1
|
| Others |
UniRef100:
UniRef100_P0DI81
UniRef90:
UniRef90_P0DI81
UniRef50:
UniRef50_P0DI81
UniGene:
Hs.592238,
Hs.622292
CCDS:
CCDS86812.1,
CCDS48082.1,
CCDS48083.2
|
| {{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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