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usherin

Summary

Gene Symbol

USH2A

Organism

Homo sapiens (human)

External Links

NCBI Gene

7399

PubChem

7399

Alliance of Genome Resources

HGNC:12601

Annotation

Keyword

Alternative splicing
Cell membrane
Cell projection
Disease variant
Disulfide bond
Glycoprotein
Hearing
Laminin EGF-like domain
Reference proteome
Repeat
Retinitis pigmentosa
Secreted
Signal
Transmembrane helix
Usher syndrome
Vision

Proteins

Displaying 1 entry
UniProt	Protein Name
O75445	Usher syndrome type IIa protein Usher syndrome type-2A protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
visual perception	IEA
sensory perception of sound	IMP	10090909
hair cell differentiation	ISS
inner ear auditory receptor cell differentiation	IEA
establishment of protein localization	ISS

GO Hierarchy

biological process

cellular process [inference]

cellular developmental process [inference]

cell differentiation [inference]

neuron differentiation [inference]

hair cell differentiation

inner ear auditory receptor cell differentiation

mechanoreceptor differentiation [inference]

inner ear receptor cell differentiation

inner ear auditory receptor cell differentiation

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

hair cell differentiation

inner ear auditory receptor cell differentiation

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of light stimulus

visual perception

sensory perception of mechanical stimulus [inference]

sensory perception of sound

photoreceptor cell maintenance

developmental process [inference]

cellular developmental process [inference]

cell differentiation [inference]

neuron differentiation [inference]

hair cell differentiation

inner ear auditory receptor cell differentiation

mechanoreceptor differentiation [inference]

inner ear receptor cell differentiation

inner ear auditory receptor cell differentiation

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

hair cell differentiation

inner ear auditory receptor cell differentiation

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization

establishment of localization [inference]

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization

biological regulation [inference]

regulation of biological process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

regulation of developmental process [inference]

regulation of cell differentiation [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

regulation of cellular process [inference]

regulation of cell differentiation [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

negative regulation of cellular process [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

Displaying entries **1 - 5** of 15 in total

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GO Term	Evidence Code	PMID
photoreceptor inner segment	ISS
stereocilia ankle link	ISS
stereocilia ankle link complex	ISS
extracellular region	IEA
basement membrane	IDA	12433396

GO Hierarchy

cellular component

protein-containing complex [inference]

cellular anatomical entity [inference]

photoreceptor inner segment

stereocilia coupling link [inference]

stereocilia ankle link

microtubule organizing center [inference]

ciliary basal body

membrane [inference]

plasma membrane region [inference]

apical plasma membrane

cell projection membrane [inference]

neuron projection membrane [inference]

stereocilium membrane

periciliary membrane compartment

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix [inference]

basement membrane

leading edge membrane [inference]

neuron projection membrane [inference]

stereocilium membrane

ciliary transition zone [inference]

photoreceptor connecting cilium

cell body [inference]

neuronal cell body

presynapse [inference]

terminal bouton

cluster of actin-based cell projections [inference]

stereocilium bundle

Displaying **all 4** entries
GO Term	Evidence Code	PMID
protein binding	IPI	16301216 16434480 20440071 23351521
collagen binding	IDA	14676276
myosin binding	ISS
identical protein binding	IEA

GO Hierarchy

molecular function

binding [inference]

protein binding

cytoskeletal protein binding [inference]

myosin binding

identical protein binding

protein-containing complex binding [inference]

collagen binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Usherin

Functional Category

G: Carbohydrate transport and metabolism
L: Replication, recombination and repair
T: Signal transduction mechanisms

Displaying **all 8** entries
InterPro
Concanavalin A-like lectin/glucanase domain superfamily
Fibronectin type III superfamily
Fibronectin type III
Immunoglobulin-like fold
LamG-like jellyroll fold
Laminin G domain
Laminin, N-terminal
Laminin-type EGF domain

Disease

Disease Ontology

Displaying **all 6** entries
DO ID	Disease Name	Source
DOID:0050439	Usher syndrome	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness	Alliance of Genome Resources
DOID:0110360	retinitis pigmentosa 39	Alliance of Genome Resources
DOID:0110827	Usher syndrome type 2	Alliance of Genome Resources
DOID:0110838	Usher syndrome type 2A	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa	Alliance of Genome Resources

Ortholog

Displaying entries **21 - 30** of 55 in total

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Species	Gene ID	Orthologous MAtrix
Tursiops truncatus	101315859	TURTR15759
Octodon degus	101568906	OCTDE04591
Mustela putorius furo	101682273	MUSPF14033
Ficedula albicollis	101815649	FICAL02491
Ictidomys tridecemlineatus	101972988	ICTTR15837
Chinchilla lanigera	102012498	CHILA01329
Myotis lucifugus	102436580	MYOLU08259
Pelodiscus sinensis	102451796	PELSI10483
Poecilia formosa	103142833	POEFO13512
Chlorocebus sabaeus	103230093	CHLSB11941

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements