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usherin

Summary

Gene Symbol

Ush2a

Organism

Mus musculus (house mouse)

External Links

NCBI Gene

22283

PubChem

22283

Alliance of Genome Resources

MGI:1341292

Annotation

Keyword

Alternative splicing
Cell membrane
Cell projection
Disulfide bond
Glycoprotein
Hearing
Laminin EGF-like domain
Reference proteome
Repeat
Secreted
Signal
Transmembrane helix
Vision

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q2QI47	Usher syndrome type IIa protein homolog Usher syndrome type-2A protein homolog
Q9D1Z8

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
sensory perception of sound	IEA ISO
inner ear receptor cell differentiation	NAS	25406310
establishment of localization in cell	IMP	24334608
hair cell differentiation	IEP	16301217
establishment of protein localization	IMP	24334608

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]

anatomical structure morphogenesis [inference]

animal organ morphogenesis

anatomical structure development [inference]

tissue development

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 16 in total

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GO Term	Evidence Code	PMID
stereocilium membrane	IDA	16301217
stereocilia ankle link	IDA NAS	16301217 20502675 24334608 26401052
terminal bouton	ISO ISS
apical plasma membrane	IDA	17360538
neuronal cell body	ISO ISS

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 projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

stereocilium

actin-based cell projection [inference]

stereocilium

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	16301217 17567809 20502675 23055499 25406310
myosin binding	IPI	17567809
identical protein binding	IPI	25406310
collagen binding	IDA ISO	14676276

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

Rodentia

Group Name

usherin

Functional Category

G: Carbohydrate transport and metabolism
P: Inorganic ion transport and metabolism
T: Signal transduction mechanisms

Displaying **all 3** entries
InterPro
Fibronectin type III
Laminin G domain
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 **1 - 10** of 83 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Homo sapiens	7399		HGNC:12601	HUMAN54734
Rattus norvegicus	289369	10116_1:0041f6	RGD:628777	RATNO06690
Pan troglodytes	457736			PANTR23697
Canis lupus familiaris	488593			CANLF14348
Danio rerio	568982		ZFIN:ZDB-GENE-060503-794	DANRE11898
Macaca mulatta	708278			MACMU21695
Equus caballus	100050607			HORSE29469
Taeniopygia guttata	100225859			TAEGU20789
Bos taurus	100296635			BOVIN08004
Callithrix jacchus	100398552			CALJA17033

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

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Tools

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements