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Protein

Usherin

Gene

USH2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in hearing and vision.

GO - Molecular functioni

  • collagen binding Source: HGNC
  • myosin binding Source: BHF-UCL
  • protein homodimerization activity Source: Ensembl

GO - Biological processi

  • establishment of protein localization Source: Ensembl
  • hair cell differentiation Source: BHF-UCL
  • inner ear receptor cell differentiation Source: BHF-UCL
  • maintenance of animal organ identity Source: HGNC
  • photoreceptor cell maintenance Source: HGNC
  • response to stimulus Source: UniProtKB-KW
  • sensory perception of light stimulus Source: HGNC
  • sensory perception of sound Source: HGNC
  • visual perception Source: UniProtKB-KW

Keywordsi

Biological processHearing, Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Usherin
Alternative name(s):
Usher syndrome type IIa protein
Usher syndrome type-2A protein
Gene namesi
Name:USH2A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:12601. USH2A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini32 – 5042ExtracellularSequence analysisAdd BLAST5011
Transmembranei5043 – 5063HelicalSequence analysisAdd BLAST21
Topological domaini5064 – 5202CytoplasmicSequence analysisAdd BLAST139

GO - Cellular componenti

Keywords - Cellular componenti

Cell membrane, Cell projection, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Usher syndrome 2A (USH2A)26 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUSH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
See also OMIM:276901
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07199644G → R in USH2A. 1 Publication1
Natural variantiVAR_025761163C → Y in USH2A. 2 Publications1
Natural variantiVAR_071997180S → P in USH2A. 1 Publication1
Natural variantiVAR_025762218V → E in USH2A. 2 PublicationsCorresponds to variant dbSNP:rs397518026Ensembl.1
Natural variantiVAR_025763230V → M in USH2A; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs45500891Ensembl.1
Natural variantiVAR_054557268G → R in USH2A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs111033280Ensembl.1
Natural variantiVAR_054558280L → F in USH2A. 1 Publication1
Natural variantiVAR_054559284E → K in USH2A. 1 Publication1
Natural variantiVAR_054560303R → C in USH2A. 1 Publication1
Natural variantiVAR_054561303R → S in USH2A. 1 PublicationCorresponds to variant dbSNP:rs748465849Ensembl.1
Natural variantiVAR_054562307S → I in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_025764319C → Y in USH2A. 1 PublicationCorresponds to variant dbSNP:rs121912599Ensembl.1
Natural variantiVAR_054563334R → Q in USH2A. 1 PublicationCorresponds to variant dbSNP:rs758303489Ensembl.1
Natural variantiVAR_025765334R → W in USH2A. 6 PublicationsCorresponds to variant dbSNP:rs397517963Ensembl.1
Natural variantiVAR_025766346N → H in USH2A. 5 PublicationsCorresponds to variant dbSNP:rs369522997Ensembl.1
Natural variantiVAR_054564352T → I in USH2A. 2 PublicationsCorresponds to variant dbSNP:rs780308389Ensembl.1
Natural variantiVAR_054565357N → T in USH2A. 1 Publication1
Natural variantiVAR_071998382V → M in USH2A. 1 PublicationCorresponds to variant dbSNP:rs750651679Ensembl.1
Natural variantiVAR_054567391S → I in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_025767419C → F in USH2A and RP39. 4 PublicationsCorresponds to variant dbSNP:rs121912600Ensembl.1
Natural variantiVAR_054568464R → C in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_025768478E → D in RP39 and USH2A; unknown pathological significance. 5 PublicationsCorresponds to variant dbSNP:rs35730265Ensembl.1
Natural variantiVAR_054570516G → V in USH2A; unknown pathological significance. 1
Natural variantiVAR_054571517R → T in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_025769536C → R in USH2A; abolishes interaction with collagen IV. 3 PublicationsCorresponds to variant dbSNP:rs111033273Ensembl.1
Natural variantiVAR_025770555L → V in USH2A. 2 PublicationsCorresponds to variant dbSNP:rs35818432Ensembl.1
Natural variantiVAR_054572575C → S in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_054573587Missing in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_025771610H → P in USH2A. 1 Publication1
Natural variantiVAR_071999691C → Y in USH2A. 1 Publication1
Natural variantiVAR_025774713G → R in USH2A; abolishes interaction with collagen IV; unknown pathological significance. 7 PublicationsCorresponds to variant dbSNP:rs696723Ensembl.1
Natural variantiVAR_025775759C → F in RP39 and USH2A. 9 PublicationsCorresponds to variant dbSNP:rs80338902Ensembl.1
Natural variantiVAR_025776761P → R in USH2A. 1 Publication1
Natural variantiVAR_0545781059P → L in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs547581739Ensembl.1
Natural variantiVAR_0545791212P → L in USH2A. 1 Publication1
Natural variantiVAR_0720011369Missing in USH2A. 1 Publication1
Natural variantiVAR_0257791515T → M in USH2A. 1 PublicationCorresponds to variant dbSNP:rs373599651Ensembl.1
Natural variantiVAR_0720031734G → R in USH2A. 1 Publication1
Natural variantiVAR_0720041777R → W in USH2A. 1 PublicationCorresponds to variant dbSNP:rs770329105Ensembl.1
Natural variantiVAR_0545841833V → E in USH2A. 1 Publication1
Natural variantiVAR_0720051836P → T in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0720061840G → V in USH2A. 1 Publication1
Natural variantiVAR_0720071843P → L in USH2A. 1 PublicationCorresponds to variant dbSNP:rs200209833Ensembl.1
Natural variantiVAR_0720081861G → S in USH2A. 1 PublicationCorresponds to variant dbSNP:rs375668376Ensembl.1
Natural variantiVAR_0720091953A → G in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs41302239Ensembl.1
Natural variantiVAR_0545852080K → N in USH2A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs114402911Ensembl.1
Natural variantiVAR_0720112116H → R in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111033450Ensembl.1
Natural variantiVAR_0720122128C → F in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0720132128C → Y in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0720142196S → T in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs79444516Ensembl.1
Natural variantiVAR_0545872238E → A in USH2A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs41277212Ensembl.1
Natural variantiVAR_0545882249A → D in USH2A. 1 Publication1
Natural variantiVAR_0720162260S → P in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0545892265 – 2266EY → D in USH2A. 2
Natural variantiVAR_0545902292R → H in USH2A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs41277210Ensembl.1
Natural variantiVAR_0545912354R → H in USH2A. 1 PublicationCorresponds to variant dbSNP:rs201386640Ensembl.1
Natural variantiVAR_0545922562V → A in USH2A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs56385601Ensembl.1
Natural variantiVAR_0720202639S → P in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398124620Ensembl.1
Natural variantiVAR_0720212738D → N in USH2A. 1 PublicationCorresponds to variant dbSNP:rs750687826Ensembl.1
Natural variantiVAR_0720222744W → C in USH2A. 1 Publication1
Natural variantiVAR_0720232752G → R in USH2A. 1 PublicationCorresponds to variant dbSNP:rs201863550Ensembl.1
Natural variantiVAR_0720242786F → S in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111033262Ensembl.1
Natural variantiVAR_0545932795A → S in USH2A. 1 Publication1
Natural variantiVAR_0545973124R → G in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0545983251C → R in USH2A. 1 PublicationCorresponds to variant dbSNP:rs527236118Ensembl.1
Natural variantiVAR_0720263263 – 3269Missing in USH2A; unknown pathological significance. 1 Publication7
Natural variantiVAR_0545993267C → R in USH2A. 1 PublicationCorresponds to variant dbSNP:rs111033263Ensembl.1
Natural variantiVAR_0546003282C → R in USH2A. 1 Publication1
Natural variantiVAR_0720283448E → K in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs368049814Ensembl.1
Natural variantiVAR_0720293462T → I in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0546013472Y → YY in USH2A. 1 Publication1
Natural variantiVAR_0720303479W → C in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0546023504P → T in USH2A. 1 Publication1
Natural variantiVAR_0720313515D → G in USH2A. 1 PublicationCorresponds to variant dbSNP:rs527236119Ensembl.1
Natural variantiVAR_0546033521W → R in USH2A. 1 PublicationCorresponds to variant dbSNP:rs111033264Ensembl.1
Natural variantiVAR_0720323529G → S in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111033439Ensembl.1
Natural variantiVAR_0720333546G → R in USH2A. 1 Publication1
Natural variantiVAR_0546043571T → M in USH2A. 3 PublicationsCorresponds to variant dbSNP:rs202175091Ensembl.1
Natural variantiVAR_0720373747Y → C in USH2A. 1 Publication1
Natural variantiVAR_0720383844I → M in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765306173Ensembl.1
Natural variantiVAR_0720393894N → D in USH2A. 1 Publication1
Natural variantiVAR_0546083895G → E in USH2A. 1 Publication1
Natural variantiVAR_0720403904R → K in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs182741276Ensembl.1
Natural variantiVAR_0546093976T → M in USH2A. 1 PublicationCorresponds to variant dbSNP:rs142381713Ensembl.1
Natural variantiVAR_0546104054S → I in USH2A. 1 Publication1
Natural variantiVAR_0257804115R → C in USH2A and RP39; associated with M-4425. 4 PublicationsCorresponds to variant dbSNP:rs111033275Ensembl.1
Natural variantiVAR_0720424174S → R in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754560357Ensembl.1
Natural variantiVAR_0546114232P → R in USH2A. 1 PublicationCorresponds to variant dbSNP:rs745371873Ensembl.1
Natural variantiVAR_0720444269P → R in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0546124337T → M in USH2A. 1 PublicationCorresponds to variant dbSNP:rs527236137Ensembl.1
Natural variantiVAR_0755874386I → F in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0257814425T → M in USH2A and RP39; associated with C-4115. 3 PublicationsCorresponds to variant dbSNP:rs201238640Ensembl.1
Natural variantiVAR_0546134433V → L in USH2A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs111033381Ensembl.1
Natural variantiVAR_0546144439T → I in USH2A. 2 PublicationsCorresponds to variant dbSNP:rs753330544Ensembl.1
Natural variantiVAR_0720454445 – 4449ENMDS → DL in USH2A; unknown pathological significance. 1 Publication5
Natural variantiVAR_0546154487Y → C in USH2A. 1 PublicationCorresponds to variant dbSNP:rs768893227Ensembl.1
Natural variantiVAR_0720484570R → H in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730254Ensembl.1
Natural variantiVAR_0546164592Q → H in USH2A. 1 Publication1
Natural variantiVAR_0720514662Q → E in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs41302237Ensembl.1
Natural variantiVAR_0613514692G → R in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45549044Ensembl.1
Natural variantiVAR_0720524763G → R in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397517990Ensembl.1
Natural variantiVAR_0720534778A → D in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs113447586Ensembl.1
Natural variantiVAR_0546184795L → R in USH2A. 1 PublicationCorresponds to variant dbSNP:rs199851839Ensembl.1
Natural variantiVAR_0720544808C → R in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0720554817G → R in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0546194818P → L in USH2A. 1 PublicationCorresponds to variant dbSNP:rs143344549Ensembl.1
Natural variantiVAR_0720604918T → M in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56136489Ensembl.1
Natural variantiVAR_0720645143R → C in USH2A. 1 PublicationCorresponds to variant dbSNP:rs145771342Ensembl.1
Retinitis pigmentosa 39 (RP39)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613809
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025767419C → F in USH2A and RP39. 4 PublicationsCorresponds to variant dbSNP:rs121912600Ensembl.1
Natural variantiVAR_025768478E → D in RP39 and USH2A; unknown pathological significance. 5 PublicationsCorresponds to variant dbSNP:rs35730265Ensembl.1
Natural variantiVAR_054575739F → L in RP39; unknown pathological significance. 1 Publication1
Natural variantiVAR_025775759C → F in RP39 and USH2A. 9 PublicationsCorresponds to variant dbSNP:rs80338902Ensembl.1
Natural variantiVAR_054576911T → N in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397518006Ensembl.1
Natural variantiVAR_072000934C → W in RP39. 1 PublicationCorresponds to variant dbSNP:rs201527662Ensembl.1
Natural variantiVAR_0720021442F → S in RP39. 1 PublicationCorresponds to variant dbSNP:rs766108245Ensembl.1
Natural variantiVAR_0545811470L → R in RP39; unknown pathological significance. 1 Publication1
Natural variantiVAR_0683541859F → C in RP39. 1 Publication1
Natural variantiVAR_0720101978P → S in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs75698489Ensembl.1
Natural variantiVAR_0720152237D → Y in RP39; unknown pathological significance. 1 Publication1
Natural variantiVAR_0683552460R → H in RP39. 1 PublicationCorresponds to variant dbSNP:rs368681648Ensembl.1
Natural variantiVAR_0720192573R → H in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs189748047Ensembl.1
Natural variantiVAR_0720252930N → K in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754774098Ensembl.1
Natural variantiVAR_0683563358C → Y in RP39; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs148660051Ensembl.1
Natural variantiVAR_0720273384S → Y in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs553202000Ensembl.1
Natural variantiVAR_0720343606L → P in RP39; unknown pathological significance. 1 Publication1
Natural variantiVAR_0720353618G → S in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs778158900Ensembl.1
Natural variantiVAR_0683573669S → R in RP39. 1 Publication1
Natural variantiVAR_0720363719R → H in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs527236139Ensembl.1
Natural variantiVAR_0720414094N → K in RP39; unknown pathological significance. 1 Publication1
Natural variantiVAR_0257804115R → C in USH2A and RP39; associated with M-4425. 4 PublicationsCorresponds to variant dbSNP:rs111033275Ensembl.1
Natural variantiVAR_0683584192R → H in RP39; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs199605265Ensembl.1
Natural variantiVAR_0720434248H → N in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372137776Ensembl.1
Natural variantiVAR_0257814425T → M in USH2A and RP39; associated with C-4115. 3 PublicationsCorresponds to variant dbSNP:rs201238640Ensembl.1
Natural variantiVAR_0720464447M → V in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139474806Ensembl.1
Natural variantiVAR_0383694674R → G in RP39. 1 PublicationCorresponds to variant dbSNP:rs80338904Ensembl.1
Natural variantiVAR_0720564840L → P in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143275144Ensembl.1
Natural variantiVAR_0720574844T → M in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200570742Ensembl.1
Natural variantiVAR_0720635063L → R in RP39. 1 Publication1
Natural variantiVAR_0720655143R → H in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111033435Ensembl.1
Natural variantiVAR_0720665145V → I in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111033269Ensembl.1
Natural variantiVAR_0720675188S → G in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs58257972Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNETi7399.
MalaCardsiUSH2A.
MIMi276901. phenotype.
613809. phenotype.
OpenTargetsiENSG00000042781.
Orphaneti791. Retinitis pigmentosa.
231178. Usher syndrome type 2.
PharmGKBiPA37228.

Polymorphism and mutation databases

BioMutaiUSH2A.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Sequence analysisAdd BLAST31
ChainiPRO_000022980432 – 5202UsherinAdd BLAST5171

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi361N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi451N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi518 ↔ 527By similarity
Disulfide bondi520 ↔ 536By similarity
Disulfide bondi538 ↔ 549By similarity
Disulfide bondi552 ↔ 572By similarity
Disulfide bondi575 ↔ 584By similarity
Disulfide bondi577 ↔ 605By similarity
Glycosylationi587N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi608 ↔ 617By similarity
Glycosylationi611N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi620 ↔ 638By similarity
Disulfide bondi641 ↔ 655By similarity
Disulfide bondi643 ↔ 662By similarity
Glycosylationi650N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi664 ↔ 673By similarity
Disulfide bondi676 ↔ 691By similarity
Disulfide bondi694 ↔ 708By similarity
Disulfide bondi696 ↔ 715By similarity
Glycosylationi697N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi717 ↔ 726By similarity
Disulfide bondi729 ↔ 744By similarity
Disulfide bondi747 ↔ 759By similarity
Disulfide bondi749 ↔ 766By similarity
Disulfide bondi768 ↔ 777By similarity
Disulfide bondi780 ↔ 792By similarity
Disulfide bondi795 ↔ 808By similarity
Disulfide bondi797 ↔ 815By similarity
Disulfide bondi817 ↔ 826By similarity
Disulfide bondi829 ↔ 844By similarity
Glycosylationi839N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi847 ↔ 861By similarity
Disulfide bondi849 ↔ 868By similarity
Glycosylationi856N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi862N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi870 ↔ 879By similarity
Disulfide bondi882 ↔ 897By similarity
Glycosylationi888N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi900 ↔ 913By similarity
Disulfide bondi902 ↔ 920By similarity
Disulfide bondi922 ↔ 931By similarity
Disulfide bondi934 ↔ 948By similarity
Glycosylationi944N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi951 ↔ 963By similarity
Disulfide bondi953 ↔ 970By similarity
Disulfide bondi972 ↔ 982By similarity
Disulfide bondi985 ↔ 999By similarity
Disulfide bondi1002 ↔ 1014By similarity
Disulfide bondi1004 ↔ 1021By similarity
Glycosylationi1011N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1023 ↔ 1032By similarity
Disulfide bondi1035 ↔ 1050By similarity
Glycosylationi1071N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1151N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1174N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1379N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1388N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1479N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1635N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1672 ↔ 1709By similarity
Glycosylationi1779N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1862 ↔ 1891By similarity
Glycosylationi1903N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2011N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2014N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2048N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2130N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2182N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2195N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2258N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2285N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2322N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2377N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2382N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2407N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2413N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2581N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2584N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2656N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2710N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2770N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2788N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2930N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2937N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2970N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3032N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3099N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3217N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3330N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi3371 ↔ 3444By similarity
Disulfide bondi3399 ↔ 3425By similarity
Glycosylationi3419N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3433N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3653N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3694N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3733N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3780N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3849N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3984N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4202N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4226N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4317N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4418N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4564N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4583N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4691N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4754N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4800N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4943N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4950N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiO75445.
PaxDbiO75445.
PeptideAtlasiO75445.
PRIDEiO75445.

PTM databases

iPTMnetiO75445.
PhosphoSitePlusiO75445.

Expressioni

Tissue specificityi

Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch's layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea.4 Publications

Gene expression databases

BgeeiENSG00000042781.
CleanExiHS_USH2A.
GenevisibleiO75445. HS.

Interactioni

Subunit structurei

Interacts with collagen IV and fibronectin via its laminin EGF-like domains. Interaction with collagen may be required for stable integration into the basement membrane. Interacts with USH1C and WHRN. Interacts with NINL. Interacts with PDZD7.6 Publications

Binary interactionsi

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GO - Molecular functioni

  • collagen binding Source: HGNC
  • myosin binding Source: BHF-UCL
  • protein homodimerization activity Source: Ensembl

Protein-protein interaction databases

BioGridi113242. 3 interactors.
IntActiO75445. 3 interactors.
STRINGi9606.ENSP00000305941.

Structurei

3D structure databases

ProteinModelPortaliO75445.
SMRiO75445.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini271 – 517Laminin N-terminalPROSITE-ProRule annotationAdd BLAST247
Domaini518 – 574Laminin EGF-like 1PROSITE-ProRule annotationAdd BLAST57
Domaini575 – 640Laminin EGF-like 2PROSITE-ProRule annotationAdd BLAST66
Domaini641 – 693Laminin EGF-like 3PROSITE-ProRule annotationAdd BLAST53
Domaini694 – 746Laminin EGF-like 4PROSITE-ProRule annotationAdd BLAST53
Domaini747 – 794Laminin EGF-like 5PROSITE-ProRule annotationAdd BLAST48
Domaini795 – 846Laminin EGF-like 6PROSITE-ProRule annotationAdd BLAST52
Domaini847 – 899Laminin EGF-like 7PROSITE-ProRule annotationAdd BLAST53
Domaini900 – 950Laminin EGF-like 8PROSITE-ProRule annotationAdd BLAST51
Domaini951 – 1001Laminin EGF-like 9PROSITE-ProRule annotationAdd BLAST51
Domaini1002 – 1052Laminin EGF-like 10PROSITE-ProRule annotationAdd BLAST51
Domaini1058 – 1146Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST89
Domaini1148 – 1244Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST97
Domaini1245 – 1363Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST119
Domaini1364 – 1468Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST105
Domaini1517 – 1709Laminin G-like 1PROSITE-ProRule annotationAdd BLAST193
Domaini1714 – 1891Laminin G-like 2PROSITE-ProRule annotationAdd BLAST178
Domaini1869 – 1955Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST87
Domaini1957 – 2054Fibronectin type-III 6PROSITE-ProRule annotationAdd BLAST98
Domaini2055 – 2144Fibronectin type-III 7PROSITE-ProRule annotationAdd BLAST90
Domaini2145 – 2239Fibronectin type-III 8PROSITE-ProRule annotationAdd BLAST95
Domaini2243 – 2330Fibronectin type-III 9PROSITE-ProRule annotationAdd BLAST88
Domaini2331 – 2433Fibronectin type-III 10PROSITE-ProRule annotationAdd BLAST103
Domaini2437 – 2531Fibronectin type-III 11PROSITE-ProRule annotationAdd BLAST95
Domaini2535 – 2622Fibronectin type-III 12PROSITE-ProRule annotationAdd BLAST88
Domaini2624 – 2722Fibronectin type-III 13PROSITE-ProRule annotationAdd BLAST99
Domaini2726 – 2819Fibronectin type-III 14PROSITE-ProRule annotationAdd BLAST94
Domaini2820 – 2923Fibronectin type-III 15PROSITE-ProRule annotationAdd BLAST104
Domaini2927 – 3018Fibronectin type-III 16PROSITE-ProRule annotationAdd BLAST92
Domaini3022 – 3112Fibronectin type-III 17PROSITE-ProRule annotationAdd BLAST91
Domaini3113 – 3209Fibronectin type-III 18PROSITE-ProRule annotationAdd BLAST97
Domaini3403 – 3497Fibronectin type-III 19PROSITE-ProRule annotationAdd BLAST95
Domaini3501 – 3589Fibronectin type-III 20PROSITE-ProRule annotationAdd BLAST89
Domaini3592 – 3682Fibronectin type-III 21PROSITE-ProRule annotationAdd BLAST91
Domaini3684 – 3770Fibronectin type-III 22PROSITE-ProRule annotationAdd BLAST87
Domaini3774 – 3865Fibronectin type-III 23PROSITE-ProRule annotationAdd BLAST92
Domaini3866 – 3963Fibronectin type-III 24PROSITE-ProRule annotationAdd BLAST98
Domaini3964 – 4067Fibronectin type-III 25PROSITE-ProRule annotationAdd BLAST104
Domaini4068 – 4153Fibronectin type-III 26PROSITE-ProRule annotationAdd BLAST86
Domaini4157 – 4261Fibronectin type-III 27PROSITE-ProRule annotationAdd BLAST105
Domaini4262 – 4357Fibronectin type-III 28PROSITE-ProRule annotationAdd BLAST96
Doma