GenTIGS

Usherin (USH2A) Associated conditions: 1. Retinitis pigmentosa 2. Usher syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_007123.6	NP_009054.6	NC_000001.11	(215622890..216423447, complement)	Reference GRCh38.p14 Primary Assembly	O75445
2	REVIEWED	NM_206933.4	NP_996816.3	NC_000001.11	(215622890..216423447, complement)	Reference GRCh38.p14 Primary Assembly	O75445

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1164 reference articles

Variant Information Usherin (USH2A) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Usherin (USH2A)

ClinVar variants:Revealing mutagenic patterns

GO Term of Usherin (USH2A)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	ISS	colocalizes_with	photoreceptor inner segment	Component	-
2	Homo sapiens	IDA	is_active_in	stereocilia ankle link	Component	31644917 36964137
3	Homo sapiens	IEA	located_in	stereocilia ankle link	Component	-
4	Homo sapiens	ISS	located_in	stereocilia ankle link	Component	-
5	Homo sapiens	ISS	part_of	stereocilia ankle link complex	Component	-
6	Homo sapiens	IPI	enables	protein binding	Function	16301216 16434480 20440071 23351521
7	Homo sapiens	IDA	enables	collagen binding	Function	14676276
8	Homo sapiens	IEA	enables	collagen binding	Function	-
9	Homo sapiens	IEA	located_in	extracellular region	Component	-
10	Homo sapiens	IDA	located_in	basement membrane	Component	12433396
11	Homo sapiens	IEA	located_in	basement membrane	Component	-
12	Homo sapiens	IDA	located_in	cytoplasm	Component	16434480
13	Homo sapiens	IEA	involved_in	visual perception	Process	-
14	Homo sapiens	IEA	involved_in	sensory perception of sound	Process	-
15	Homo sapiens	IMP	involved_in	sensory perception of sound	Process	10090909
16	Homo sapiens	TAS	located_in	apical plasma membrane	Component	31644917
17	Homo sapiens	IPI	enables	myosin binding	Function	31644917
18	Homo sapiens	ISS	colocalizes_with	photoreceptor connecting cilium	Component	-
19	Homo sapiens	ISS	located_in	stereocilium bundle	Component	-
20	Homo sapiens	IEA	involved_in	hair cell differentiation	Process	-
21	Homo sapiens	ISS	involved_in	hair cell differentiation	Process	-
22	Homo sapiens	ISS	colocalizes_with	neuronal cell body	Component	-
23	Homo sapiens	ISS	colocalizes_with	terminal bouton	Component	-
24	Homo sapiens	ISS	acts_upstream_of_or_within	establishment of protein localization	Process	-
25	Homo sapiens	IEA	involved_in	photoreceptor cell maintenance	Process	-
26	Homo sapiens	IMP	involved_in	photoreceptor cell maintenance	Process	10090909
27	Homo sapiens	IMP	involved_in	maintenance of animal organ identity	Process	15671307
28	Homo sapiens	IEA	involved_in	animal organ development	Process	-
29	Homo sapiens	IMP	involved_in	sensory perception of light stimulus	Process	10090909
30	Homo sapiens	IDA	involved_in	inner ear receptor cell differentiation	Process	36964137
31	Homo sapiens	NAS	involved_in	inner ear receptor cell differentiation	Process	25406310
32	Homo sapiens	IEA	located_in	stereocilium membrane	Component	-
33	Homo sapiens	ISS	located_in	stereocilium membrane	Component	-
34	Homo sapiens	IEA	located_in	periciliary membrane compartment	Component	-
35	Homo sapiens	ISS	located_in	periciliary membrane compartment	Component	-
36	Homo sapiens	IEA	part_of	USH2 complex	Component	-
37	Homo sapiens	ISS	part_of	USH2 complex	Component	-