• 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
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:
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)