OCRL |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- OCRL (HGNC:8108) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- OCRL inositol polyphosphate-5-phosphatase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- OCRL1, Dent-2
- %HI
- 14.52(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.16(Read more about gnomAD LOEUF score)
- Cytoband
- Xq26.1
- Genomic Coordinates
-
GRCh37/hg19: chrX:128674236-128726533 NCBI Ensembl UCSC GRCh38/hg38: chrX:129540259-129592556 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000276.4 ENST00000371113.9 (Read more about MANE Select)
- Function
- Catalyzes the hydrolysis of the 5-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:7761412, PubMed:15474001, PubMed:9430698, PubMed:10764818). Able also to hydrolyze the 5-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate (PubMed:7761412, PubMed:25869668). Regulates traffic in the endosomal pathway by regula... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- oculocerebrorenal syndrome Monarch
-
PUBMED:
10923037
Monnier et al. (2000) performed mutation analysis in 36 French families with Lowe’s syndrome and characterized 27 new truncating variants (de novo or inherited), including frameshift, nonsense, splice site mutations, and large genomic deletions besides other 1 in-frame and 6 missense variants. One nonsense variant (R483X) was a recurrent variant. The four large genomic deletions occurred in the first half of the gene, whereas all the remaining mutations took place in the second part of the gene and were concentrated in a few exons.
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PUBMED:
21031565
Hichri et al. (2011) A French cohort study identified a OCRL gene variant in 130 Lowe syndrome families and 6 families affected by Dent-2 disease. 51 of the identified variants were novel. No founding effect was evidenced for recurrent mutations. Among them were 2 partial gene deletions, 7 nonsense, 9 splicing and 12 frame shift variants. Majority of these truncating variants were identified in patients with Lowe syndrome.
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PUBMED:
31674016
Ye et al. (2020) did a multicenter genotype and phenotype study of Chinese children with Dent disease, which recruited 45 pediatric probands from 45 families from 12 different regions of China recruited from 2014 to 2018. Besides variants in CLCN5 (Dent disease type 1), they described 13 variants of OCRL gene, including 4 frame shift variants, in 13 families with Dent disease type 2.
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.