| Type | Description |
|---|---|
| Definition | RP2 activator of ARL3 GTPase |
| Date | Results | Publications |
|---|---|---|
| 2021-03-27 14:40:00 | Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. | 32244552 |
| 2019-09-07 10:49:00 | We utilized a structure-based approach to pinpoint the binding interface to a strictly conserved cluster of residues on the surface of RP2 that spans both the C- and N-terminal domains of the protein, and which is structurally distinct from the ARL3-binding site.RP2 is a positive regulator of cell motility in vitro, recruiting OSTF1 to the cell membrane and preventing its interaction with the migration regulator Myo1E. | 29361551 |
| 2019-06-29 13:23:00 | Data identified a novel RP2 missense mutation Q158P in a Chinese family with X-linked retinitis pigmentosa (XLRP). RP2 Q158P located in the TBCC domain and destabilized RP2 protein in cells. | 31071385 |
| 2018-11-10 10:42:00 | four frameshift mutations including three novel mutations of c.1059 + 1 G > T, c.2002dupC and c.2236_2237del CT, as well as a previously reported mutation of c.2899delG were detected in the RPGR gene in the other four families. Our study further expands the mutation spectrum of RP2 and RPGR, and will be helpful for further study molecular pathogenesis of X-linked retinitis pigmentosa. | 28294154 |
| 2017-11-18 12:48:00 | RP2 mutation would have a moderate pathogenic effect in photoreceptors carrying the mutation, causing abnormal outer segments, with the accumulation of lipofuscin similar to RDS/PRPH2 pattern dystrophy. | 26885761 |
| Type | IDs |
|---|---|
| Synonymous | DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2 |
| Gene |
UniProtKB-ID:
XRP2_HUMAN,
A0A1B2JLU2_HUMAN
UniprotKB:
O75695,
A0A1B2JLU2
UniParc:
UPI000000DA35
EMBL:
AJ007590,
AL627143,
KX272602,
CH471164,
AL050307,
BC053530,
BC043348
Ensembl:
ENSG00000102218
KO:
hsa:6102
|
| Nucleutide sequences |
EMBL-CDS:
AAH43348.1,
AAH53530.1,
CAA07577.1,
EAW59275.1,
ANZ79619.1
Gene_ORFName:
hCG_15708
Ensembl_TRS:
ENST00000218340
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000218340
RefSeq:
NP_008846.2
|
| Others |
UniRef100:
UniRef100_O75695
UniRef90:
UniRef90_O75695
UniRef50:
UniRef50_O75695
UniGene:
Hs.44766
CCDS:
CCDS14270.1
|
| {{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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