• 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)

Dosage ID:
ISCA-18798
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/04/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • 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.
HI Evidence Comments:
Whole gene and intragenic deletions of RP2, as well as sequence-level mutations predicted to result in a loss-of-function cause X-linked retinitis pigmentosa (RP) (XLRP). While a verified focal RP2 deletion has not yet been reported, the vast majority of described RP2 mutations are truncating, and non-focal RP2 deletions have been reported [PMID 16419135, 16385466, 22126752]. Typically female carriers of RP2 mutations are asymptomatic; PMIDs 15031171 and 16969763 report affected females with heterozygous frameshift RP2 mutation and a 2-bp RP2 deletion/t(X;A), respectively.
NOTE:

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

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
NOTE:

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.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)