| Type | Description |
|---|---|
| Definition | adaptor related protein complex 1 subunit sigma 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-08-29 12:46:00 | Long noncoding RNA LINC00518 acts as a competing endogenous RNA to promote the metastasis of malignant melanoma via miR-204-5p/AP1S2 axis. | 31712557 |
| 2019-11-30 11:54:00 | Four generations in Chinese pedigree with Pettigrew syndrome resulting from a novel splice site mutation in AP1S2. AP1S2 mutations appear to be an important cause of Mental retardation,delayed in walking, abnormal speech, hypotonia, dysmorphic features, abnormal behavior and brain. | 30714330 |
| 2015-05-16 10:07:00 | sigma1B adaptin regulates adipogenesis by mediating the sorting of sortilin in adipose tissue. | 24928897 |
| 2014-10-11 12:26:00 | The AP1S2 c.426+1 G>T mutation segregates with the disease in the Pettigrew syndrome family. | 23756445 |
| 2010-01-21 00:00:00 | A mutation in the 3d intron causes skipping of exon 3 yielding a protein with 3 new AAs terminating at codon 64. A new nonsense mutation p.Gln66X was found in exon 3. Without AP1S2, defective membrane protein trafficking alters brain neural cell fate. | 17617514 |
| Type | IDs |
|---|---|
| Synonymous | DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B |
| Gene |
UniProtKB-ID:
AP1S2_HUMAN,
Q549M9_HUMAN,
A0A5F9ZHW1_HUMAN
UniprotKB:
P56377,
Q549M9,
A0A5F9ZHW1
UniParc:
UPI0000124FEC,
UPI0000004073,
UPI00017A7CB2
EMBL:
AF251295,
AB015320,
AC004106,
AF091077,
BC001117,
BC071867,
KF458988,
AF087876,
CH471074,
AK299921,
BT006738
Ensembl:
ENSG00000182287
KO:
hsa:8905
|
| Nucleutide sequences |
EMBL-CDS:
AAG44595.1,
AAC72946.1,
BAA33392.1,
AAH01117.1,
AAP35384.1,
AAH71867.1,
BAG61756.1,
EAW98908.1,
AAP97176.1
Gene_ORFName:
DC22,
hCG_1982256
Ensembl_TRS:
ENST00000329235,
ENST00000672987
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000328789,
ENSP00000500695
RefSeq:
NP_001259000.1,
NP_003907.3,
NP_001355936.1,
NP_001355937.1,
NP_001355923.1
|
| Others |
UniRef100:
UniRef100_Q9DB50,
UniRef100_P56377
UniRef90:
UniRef90_P56377-2,
UniRef90_P56377
UniRef50:
UniRef50_P56377,
UniRef50_P56377-2
UniGene:
Hs.121592
CCDS:
CCDS14173.1
|
| {{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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