RP2 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- RP2 (HGNC:10274) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- RP2 activator of ARL3 GTPase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- TBCCD2, NME10, NM23-H10
- %HI
- 33.66(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.96(Read more about gnomAD pLI score)
- LOEUF
- 0.31(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.3
- Genomic Coordinates
-
GRCh37/hg19: chrX:46696478-46741793 NCBI Ensembl UCSC GRCh38/hg38: chrX:46837043-46882358 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006915.3 ENST00000218340.4 (Read more about MANE Select)
- Function
- Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as a guanine nucleotide dissociation inhibitor towards ADP-ribosylation facto... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- retinitis pigmentosa 2 Monarch
-
PUBMED:
16969763
Pelletier et al. (2007) described several mutations identified amongst a French cohort with X-linked retinitis pigmentosa, including 4 previously unreported frameshifts and one previously unreported nonsense mutation. The group also identified one family with a whole gene deletion of RP2, though the extent of this deletion was not determined in this study.
-
PUBMED:
9697692
Schwahn et al. (1998) identified two nonsense and two frameshift mutations amongst unrelated individuals with X-linked retinitis pigmentosa. These mutations were not identified amongst 92 controls.
-
PUBMED:
10090907
Hardcastle et al. (1999) identified a nonsense mutation, R120X, in three apparently unrelated families with X-linked retinitis pigmentosa.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.