| Type | Description |
|---|---|
| Definition | interphotoreceptor matrix proteoglycan 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-18 12:23:00 | Upon disruption of the myosin-tail homology domain, inner segment plasma membrane proteins, including syntaxin 3 (STX3), synaptosome-associated protein 25 (SNAP25), and interphotoreceptor matrix proteoglycan 2 (IMPG2), rapidly accumulated in the outer segment. | 31694913 |
| 2020-04-04 12:45:00 | IMPG2 mutation is associated with retinal dystrophy. | 31264916 |
| 2015-01-31 11:07:00 | IMPG1 and IMPG2 are new causal genes of vitelliform dystrophy, involved in 8% of our families. | 25085631 |
| 2014-09-06 12:06:00 | Mutations in IMPG2 cause a severe form of retinitis pigmentosa with symptoms manifesting in the first 2 decades of life. | 24876279 |
| 2010-11-27 10:33:00 | identification of IMPG2 mutations in autosomal-recessive retinitis pigmentosa; data show that mutations in a structural component of the interphotoreceptor matrix can cause autosomal-recessive retinitis pigmentosa | 20673862 |
| Type | IDs |
|---|---|
| Synonymous | IPM200, RP56, SPACRCAN, VMD5 |
| Gene |
UniProtKB-ID:
IMPG2_HUMAN,
F1T0J3_HUMAN
UniprotKB:
Q9BZV3,
F1T0J3
UniParc:
UPI000013C605
EMBL:
AF271376,
AF271371,
AF271379,
AF271373,
AF271368,
AF271364,
AF271374,
AF271367,
AF271365,
AF271369,
AF271366,
AF271363,
AF157624,
AB593127,
AF271372,
AF271375,
AF271378,
AC068764,
AF271377,
AF173155,
AF271370
Ensembl:
ENSG00000081148
KO:
hsa:50939
|
| Nucleutide sequences |
EMBL-CDS:
AAF06999.1,
AAF13154.1,
AAG49889.1,
BAJ84067.1
Ensembl_TRS:
ENST00000193391
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000193391
RefSeq:
NP_057331.2
|
| Others |
UniRef100:
UniRef100_Q9BZV3
UniRef90:
UniRef90_Q9BZV3
UniRef50:
UniRef50_Q9BZV3
UniGene:
Hs.209249
CCDS:
CCDS2940.1
|
| {{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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