| Type | Description |
|---|---|
| Definition | ADP ribosylation factor like GTPase 2 binding protein |
| Date | Results | Publications |
|---|---|---|
| 2020-01-11 10:41:00 | Study identified multiple ciliopathy phenotypes associated with mutations in ARL2BP in human patients and in a mouse knockout model. Spermiogenesis is impaired, resulting in abnormally shaped heads, shortened and mis-assembled sperm tails, and loss of axonemal doublets. ARL2BP is required for the structural maintenance of cilia as well as of the sperm flagellum, and that its deficiency leads to syndromic ciliopathy. | 31425546 |
| 2018-11-17 10:55:00 | This study identified two homozygous variants in ARL2BP as a rare cause of autosomal recessive retinitis pigmentosa. Further studies are required to define the underlying disease mechanism causing retinal degeneration as a result of mutations in ARL2BP and any phenotype-genotype correlation associated with residual levels of the wild-type transcript. | 30210231 |
| 2018-03-17 10:20:00 | Subsequent analysis of 844 index cases did not reveal further pathogenic chances in ARL2BP indicating that mutations in ARL2B are a rare cause of arRCD (about 0.1%) in a large cohort of French patients. | 27790702 |
| 2016-04-16 10:50:00 | Alteration of EBV encoded miR-BART1 expression results in an increase in migration and invasion of nasopharyngeal carcinoma in vitro and causes metastasis in vivo. EBV-miR-BART1 directly targets the cellular tumour suppressor PTEN. | 26135619 |
| 2014-09-27 12:46:00 | EBV also downregulates two immediate early genes by miR-BART20-5p. | 24899173 |
| Type | IDs |
|---|---|
| Synonymous | BART, BART1, RP66 |
| Gene |
UniProtKB-ID:
AR2BP_HUMAN,
A0A024R6U9_HUMAN
UniprotKB:
Q9Y2Y0,
A0A024R6U9
UniParc:
UPI00000372F1,
UPI000150AEB4
EMBL:
BC003087,
AF126062,
BC094878,
AK075050,
CH471092
Ensembl:
ENSG00000102931
KO:
hsa:23568
|
| Nucleutide sequences |
EMBL-CDS:
EAW82913.1,
BAG52057.1,
AAH03087.1,
AAD20633.1,
AAH94878.1,
EAW82914.1
Gene_ORFName:
hCG_23900
Ensembl_TRS:
ENST00000219204
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000219204
RefSeq:
NP_036238.1
|
| Others |
UniRef100:
UniRef100_Q9Y2Y0
UniRef90:
UniRef90_Q9Y2Y0
UniRef50:
UniRef50_Q9Y2Y0
UniGene:
Hs.632873,
Hs.719024
CCDS:
CCDS10776.1
|
| {{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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