USH2A |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- USH2A (HGNC:12601) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- usherin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- USH2
- Alias symbols
- RP39
- %HI
- 4.18(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.86(Read more about gnomAD LOEUF score)
- Cytoband
- 1q41
- Genomic Coordinates
-
GRCh37/hg19: chr1:215796233-216596790 NCBI Ensembl UCSC GRCh38/hg38: chr1:215622891-216423448 NCBI Ensembl UCSC - MANE Select Transcript
- NM_206933.4 ENST00000307340.8 (Read more about MANE Select)
- Function
- Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. {ECO:0000250|UniProtKB:Q2QI47}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15511
ClinGen Curation ID:
CCID:008088
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Usher syndrome type 2A Monarch
HI Evidence Comments:
Variants in USH2A have been reported in association with Usher syndrome type 2 (USH2), an autosomal recessive condition. Furthermore, the overall evidence that USH2A, when altered, causes USH2 has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)