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Protein

Usherin

Gene

USH2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

EuPathDBiHostDB:ENSG00000042781.12
HGNCiHGNC:12601 USH2A
MIMi608400 gene
neXtProtiNX_O75445

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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 PublicationCorresponds to variant dbSNP:rs1381795491Ensembl.1
Natural variantiVAR_025761163C → Y in USH2A. 2 Publications1
Natural variantiVAR_071997180S → P in USH2A. 1 PublicationCorresponds to variant dbSNP:rs1171672823Ensembl.1
Natural variantiVAR_025762218V → E in USH2A. 2 PublicationsCorresponds to variant dbSNP:rs397518026EnsemblClinVar.1
Natural variantiVAR_025763230V → M in USH2A; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs45500891EnsemblClinVar.1
Natural variantiVAR_054557268G → R in USH2A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs111033280EnsemblClinVar.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:rs121912599EnsemblClinVar.1
Natural variantiVAR_054563334R → Q in USH2A. 1 PublicationCorresponds to variant dbSNP:rs758303489EnsemblClinVar.1
Natural variantiVAR_025765334R → W in USH2A. 6 PublicationsCorresponds to variant dbSNP:rs397517963EnsemblClinVar.1
Natural variantiVAR_025766346N → H in USH2A. 5 PublicationsCorresponds to variant dbSNP:rs369522997EnsemblClinVar.1
Natural variantiVAR_054564352T → I in USH2A. 2 PublicationsCorresponds to variant dbSNP:rs780308389EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs949082769Ensembl.1
Natural variantiVAR_054568464R → C in USH2A; unknown pathological significance. 1 Publication1
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:rs111033273EnsemblClinVar.1
Natural variantiVAR_025770555L → V in USH2A. 2 PublicationsCorresponds to variant dbSNP:rs35818432EnsemblClinVar.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_025776761P → R in USH2A. 1 Publication1
Natural variantiVAR_0545781059P → L in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs547581739EnsemblClinVar.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:rs375668376EnsemblClinVar.1
Natural variantiVAR_0720091953A → G in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs41302239EnsemblClinVar.1
Natural variantiVAR_0545852080K → N in USH2A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs114402911EnsemblClinVar.1
Natural variantiVAR_0720112116H → R in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111033450EnsemblClinVar.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:rs79444516EnsemblClinVar.1
Natural variantiVAR_0545872238E → A in USH2A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs41277212EnsemblClinVar.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:rs41277210EnsemblClinVar.1
Natural variantiVAR_0545912354R → H in USH2A. 1 PublicationCorresponds to variant dbSNP:rs201386640EnsemblClinVar.1
Natural variantiVAR_0545922562V → A in USH2A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs56385601EnsemblClinVar.1
Natural variantiVAR_0720202639S → P in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398124620EnsemblClinVar.1
Natural variantiVAR_0720212738D → N in USH2A. 1 PublicationCorresponds to variant dbSNP:rs750687826EnsemblClinVar.1
Natural variantiVAR_0720222744W → C in USH2A. 1 PublicationCorresponds to variant dbSNP:rs1424639717Ensembl.1
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:rs111033262EnsemblClinVar.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:rs527236118EnsemblClinVar.1
Natural variantiVAR_0720263263 – 3269Missing in USH2A; unknown pathological significance. 1 Publication7
Natural variantiVAR_0545993267C → R in USH2A. 1 PublicationCorresponds to variant dbSNP:rs111033263EnsemblClinVar.1
Natural variantiVAR_0546003282C → R in USH2A. 1 Publication1
Natural variantiVAR_0720283448E → K in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs368049814EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs1308924086Ensembl.1
Natural variantiVAR_0546023504P → T in USH2A. 1 Publication1
Natural variantiVAR_0720313515D → G in USH2A. 1 PublicationCorresponds to variant dbSNP:rs527236119EnsemblClinVar.1
Natural variantiVAR_0546033521W → R in USH2A. 1 PublicationCorresponds to variant dbSNP:rs111033264EnsemblClinVar.1
Natural variantiVAR_0720323529G → S in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111033439EnsemblClinVar.1
Natural variantiVAR_0720333546G → R in USH2A. 1 Publication1
Natural variantiVAR_0546043571T → M in USH2A. 3 PublicationsCorresponds to variant dbSNP:rs202175091EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs1472714005Ensembl.1
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:rs142381713EnsemblClinVar.1
Natural variantiVAR_0546104054S → I in USH2A. 1 Publication1
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:rs527236137EnsemblClinVar.1
Natural variantiVAR_0755874386I → F in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_0546134433V → L in USH2A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs111033381EnsemblClinVar.1
Natural variantiVAR_0546144439T → I in USH2A. 2 PublicationsCorresponds to variant dbSNP:rs753330544EnsemblClinVar.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:rs730254EnsemblClinVar.1
Natural variantiVAR_0546164592Q → H in USH2A. 1 Publication1
Natural variantiVAR_0720514662Q → E in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs41302237EnsemblClinVar.1
Natural variantiVAR_0613514692G → R in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45549044EnsemblClinVar.1
Natural variantiVAR_0720524763G → R in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397517990EnsemblClinVar.1
Natural variantiVAR_0720534778A → D in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs113447586EnsemblClinVar.1
Natural variantiVAR_0546184795L → R in USH2A. 1 PublicationCorresponds to variant dbSNP:rs199851839EnsemblClinVar.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:rs143344549EnsemblClinVar.1
Natural variantiVAR_0720604918T → M in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56136489EnsemblClinVar.1
Natural variantiVAR_0720645143R → C in USH2A. 1 PublicationCorresponds to variant dbSNP:rs145771342EnsemblClinVar.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_054575739F → L in RP39; unknown pathological significance. 1 Publication1
Natural variantiVAR_054576911T → N in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397518006EnsemblClinVar.1
Natural variantiVAR_072000934C → W in RP39. 1 PublicationCorresponds to variant dbSNP:rs201527662EnsemblClinVar.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:rs75698489EnsemblClinVar.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:rs189748047EnsemblClinVar.1
Natural variantiVAR_0720252930N → K in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754774098Ensembl.1
Natural variantiVAR_0683563358C → Y in RP39. 2 PublicationsCorresponds to variant dbSNP:rs148660051EnsemblClinVar.1
Natural variantiVAR_0720273384S → Y in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs553202000EnsemblClinVar.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:rs778158900EnsemblClinVar.1
Natural variantiVAR_0683573669S → R in RP39. 1 Publication1
Natural variantiVAR_0720363719R → H in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs527236139EnsemblClinVar.1
Natural variantiVAR_0720414094N → K in RP39; unknown pathological significance. 1 Publication1
Natural variantiVAR_0683584192R → H in RP39; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs199605265EnsemblClinVar.1
Natural variantiVAR_0720434248H → N in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372137776Ensembl.1
Natural variantiVAR_0720464447M → V in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139474806EnsemblClinVar.1
Natural variantiVAR_0383694674R → G in RP39. 1 PublicationCorresponds to variant dbSNP:rs80338904EnsemblClinVar.1
Natural variantiVAR_0720564840L → P in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143275144EnsemblClinVar.1
Natural variantiVAR_0720574844T → M in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200570742EnsemblClinVar.1
Natural variantiVAR_0720635063L → R in RP39. 1 Publication1
Natural variantiVAR_0720655143R → H in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111033435EnsemblClinVar.1
Natural variantiVAR_0720665145V → I in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111033269EnsemblClinVar.1
Natural variantiVAR_0720675188S → G in RP39; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs58257972EnsemblClinVar.1
Defects in USH2A has been found in a patient with a form of non-syndromic sensorineural hearing loss.1 Publication

Keywords - Diseasei

Deafness, Disease mutation, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNETi7399
GeneReviewsiUSH2A
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
ProteomicsDBi50011
50012 [O75445-2]
50013 [O75445-3]

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 Expressed in 19 organ(s), highest expression level in liver
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113242, 3 interactors
CORUMiO75445
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
Domaini4358 – 4445Fibronectin type-III 29PROSITE-ProRule annotationAdd BLAST88
Domaini4446 – 4530Fibronectin type-III 30PROSITE-ProRule annotationAdd BLAST85
Domaini4534 – 4630Fibronectin type-III 31PROSITE-ProRule annotationAdd BLAST97
Domaini4636 – 4733Fibronectin type-III 32PROSITE-ProRule annotationAdd BLAST98
Domaini4734 – 4827Fibronectin type-III 33PROSITE-ProRule annotationAdd BLAST94
Domaini4828 – 4927Fibronectin type-III 34PROSITE-ProRule annotationAdd BLAST100

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi5200 – 5202PDZ-binding3

Domaini

The PDZ-binding motif probably mediates the association with some of the PDZ domains of USH1C and WHRN.By similarity

Keywords - Domaini

Laminin EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1836 Eukaryota
KOG3510 Eukaryota
ENOG410Y1E5 LUCA
GeneTreeiENSGT00890000139348
HOGENOMiHOG000124780
HOVERGENiHBG094138
InParanoidiO75445
KOiK19636
OMAiCTKYACV
OrthoDBiEOG091G003E
PhylomeDBiO75445
TreeFamiTF330287

Family and domain databases

CDDicd00063 FN3, 30 hits
Gene3Di2.60.120.1490, 1 hit
2.60.40.10, 33 hits
InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR006558 LamG-like
IPR002049 Laminin_EGF
IPR001791 Laminin_G
IPR008211 Laminin_N
IPR038684 Laminin_N_sf
IPR026915 USH2A
PANTHERiPTHR10574:SF274 PTHR10574:SF274, 16 hits
PfamiView protein in Pfam
PF00041 fn3, 16 hits
PF00053 Laminin_EGF, 10 hits
PF02210 Laminin_G_2, 2 hits
PF00055 Laminin_N, 1 hit
SMARTiView protein in SMART
SM00180 EGF_Lam, 10 hits
SM00060 FN3, 33 hits
SM00282 LamG, 2 hits
SM00560 LamGL, 1 hit
SM00136 LamNT, 1 hit
SUPFAMiSSF49265 SSF49265, 22 hits
SSF49899 SSF49899, 3 hits
PROSITEiView protein in PROSITE
PS00022 EGF_1, 7 hits
PS01248 EGF_LAM_1, 7 hits
PS50027 EGF_LAM_2, 10 hits
PS50853 FN3, 35 hits
PS50025 LAM_G_DOMAIN, 2 hits
PS51117 LAMININ_NTER, 1 hit

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O75445-1) [UniParc]FASTAAdd to basket
Also known as: b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MNCPVLSLGS GFLFQVIEML IFAYFASISL TESRGLFPRL ENVGAFKKVS
60 70 80 90 100
IVPTQAVCGL PDRSTFCHSS AAAESIQFCT QRFCIQDCPY RSSHPTYTAL
110 120 130 140 150
FSAGLSSCIT PDKNDLHPNA HSNSASFIFG NHKSCFSSPP SPKLMASFTL
160 170 180 190 200
AVWLKPEQQG VMCVIEKTVD GQIVFKLTIS EKETMFYYRT VNGLQPPIKV
210 220 230 240 250
MTLGRILVKK WIHLSVQVHQ TKISFFINGV EKDHTPFNAR TLSGSITDFA
260 270 280 290 300
SGTVQIGQSL NGLEQFVGRM QDFRLYQVAL TNREILEVFS GDLLRLHAQS
310 320 330 340 350
HCRCPGSHPR VHPLAQRYCI PNDAGDTADN RVSRLNPEAH PLSFVNDNDV
360 370 380 390 400
GTSWVSNVFT NITQLNQGVT ISVDLENGQY QVFYIIIQFF SPQPTEIRIQ
410 420 430 440 450
RKKENSLDWE DWQYFARNCG AFGMKNNGDL EKPDSVNCLQ LSNFTPYSRG
460 470 480 490 500
NVTFSILTPG PNYRPGYNNF YNTPSLQEFV KATQIRFHFH GQYYTTETAV
510 520 530 540 550
NLRHRYYAVD EITISGRCQC HGHADNCDTT SQPYRCLCSQ ESFTEGLHCD
560 570 580 590 600
RCLPLYNDKP FRQGDQVYAF NCKPCQCNSH SKSCHYNISV DPFPFEHFRG
610 620 630 640 650
GGGVCDDCEH NTTGRNCELC KDYFFRQVGA DPSAIDVCKP CDCDTVGTRN
660 670 680 690 700
GSILCDQIGG QCNCKRHVSG RQCNQCQNGF YNLQELDPDG CSPCNCNTSG
710 720 730 740 750
TVDGDITCHQ NSGQCKCKAN VIGLRCDHCN FGFKFLRSFN DVGCEPCQCN
760 770 780 790 800
LHGSVNKFCN PHSGQCECKK EAKGLQCDTC RENFYGLDVT NCKACDCDTA
810 820 830 840 850
GSLPGTVCNA KTGQCICKPN VEGRQCNKCL EGNFYLRQNN SFLCLPCNCD
860 870 880 890 900
KTGTINGSLL CNKSTGQCPC KLGVTGLRCN QCEPHRYNLT IDNFQHCQMC
910 920 930 940 950
ECDSLGTLPG TICDPISGQC LCVPNRQGRR CNQCQPGFYI SPGNATGCLP
960 970 980 990 1000
CSCHTTGAVN HICNSLTGQC VCQDASIAGQ RCDQCKDHYF GFDPQTGRCQ
1010 1020 1030 1040 1050
PCNCHLSGAL NETCHLVTGQ CFCKQFVTGS KCDACVPSAS HLDVNNLLGC
1060 1070 1080 1090 1100
SKTPFQQPPP RGQVQSSSAI NLSWSPPDSP NAHWLTYSLL RDGFEIYTTE
1110 1120 1130 1140 1150
DQYPYSIQYF LDTDLLPYTK YSYYIETTNV HGSTRSVAVT YKTKPGVPEG
1160 1170 1180 1190 1200
NLTLSYIIPI GSDSVTLTWT TLSNQSGPIE KYILSCAPLA GGQPCVSYEG
1210 1220 1230 1240 1250
HETSATIWNL VPFAKYDFSV QACTSGGCLH SLPITVTTAQ APPQRLSPPK
1260 1270 1280 1290 1300
MQKISSTELH VEWSPPAELN GIIIRYELYM RRLRSTKETT SEESRVFQSS
1310 1320 1330 1340 1350
GWLSPHSFVE SANENALKPP QTMTTITGLE PYTKYEFRVL AVNMAGSVSS
1360 1370 1380 1390 1400
AWVSERTGES APVFMIPPSV FPLSSYSLNI SWEKPADNVT RGKVVGYDIN
1410 1420 1430 1440 1450
MLSEQSPQQS IPMAFSQLLH TAKSQELSYT VEGLKPYRIY EFTITLCNSV
1460 1470 1480 1490 1500
GCVTSASGAG QTLAAAPAQL RPPLVKGINS TTIHLRWFPP EELNGPSPIY
1510 1520 1530 1540 1550
QLERRESSLP ALMTTMMKGI RFIGNGYCKF PSSTHPVNTD FTGIKASFRT
1560 1570 1580 1590 1600
KVPEGLIVFA ASPGNQEEYF ALQLKKGRLY FLFDPQGSPV EVTTTNDHGK
1610 1620 1630 1640 1650
QYSDGKWHEI IAIRHQAFGQ ITLDGIYTGS SAILNGSTVI GDNTGVFLGG
1660 1670 1680 1690 1700
LPRSYTILRK DPEIIQKGFV GCLKDVHFMK NYNPSAIWEP LDWQSSEEQI
1710 1720 1730 1740 1750
NVYNSWEGCP ASLNEGAQFL GAGFLELHPY MFHGGMNFEI SFKFRTDQLN
1760 1770 1780 1790 1800
GLLLFVYNKD GPDFLAMELK SGILTFRLNT SLAFTQVDLL LGLSYCNGKW
1810 1820 1830 1840 1850
NKVIIKKEGS FISASVNGLM KHASESGDQP LVVNSPVYVG GIPQELLNSY
1860 1870 1880 1890 1900
QHLCLEQGFG GCMKDVKFTR GAVVNLASVS SGAVRVNLDG CLSTDSAVNC
1910 1920 1930 1940 1950
RGNDSILVYQ GKEQSVYEGG LQPFTEYLYR VIASHEGGSV YSDWSRGRTT
1960 1970 1980 1990 2000
GAAPQSVPTP SRVRSLNGYS IEVTWDEPVV RGVIEKYILK AYSEDSTRPP
2010 2020 2030 2040 2050
RMPSASAEFV NTSNLTGILT GLLPFKNYAV TLTACTLAGC TESSHALNIS
2060 2070 2080 2090 2100
TPQEAPQEVQ PPVAKSLPSS LLLSWNPPKK ANGIITQYCL YMDGRLIYSG
2110 2120 2130 2140 2150
SEENYIVTDL AVFTPHQFLL SACTHVGCTN SSWVLLYTAQ LPPEHVDSPV
2160 2170 2180 2190 2200
LTVLDSRTIH IQWKQPRKIS GILERYVLYM SNHTHDFTIW SVIYNSTELF
2210 2220 2230 2240 2250
QDHMLQYVLP GNKYLIKLGA CTGGGCTVSE ASEALTDEDI PEGVPAPKAH
2260 2270 2280 2290 2300
SYSPDSFNVS WTEPEYPNGV ITSYGLYLDG ILIHNSSELS YRAYGFAPWS
2310 2320 2330 2340 2350
LHSFRVQACT AKGCALGPLV ENRTLEAPPE GTVNVFVKTQ GSRKAHVRWE
2360 2370 2380 2390 2400
APFRPNGLLT HSVLFTGIFY VDPVGNNYTL LNVTKVMYSG EETNLWVLID
2410 2420 2430 2440 2450
GLVPFTNYTV QVNISNSQGS LITDPITIAM PPGAPDGVLP PRLSSATPTS
2460 2470 2480 2490 2500
LQVVWSTPAR NNAPGSPRYQ LQMRSGDSTH GFLELFSNPS ASLSYEVSDL
2510 2520 2530 2540 2550
QPYTEYMFRL VASNGFGSAH SSWIPFMTAE DKPGPVVPPI LLDVKSRMML
2560 2570 2580 2590 2600
VTWQHPRKSN GVITHYNIYL HGRLYLRTPG NVTNCTVMHL HPYTAYKFQV
2610 2620 2630 2640 2650
EACTSKGCSL SPESQTVWTL PGAPEGIPSP ELFSDTPTSV IISWQPPTHP
2660 2670 2680 2690 2700
NGLVENFTIE RRVKGKEEVT TLVTLPRSHS MRFIDKTSAL SPWTKYEYRV
2710 2720 2730 2740 2750
LMSTLHGGTN SSAWVEVTTR PSRPAGVQPP VVTVLEPDAV QVTWKPPLIQ
2760 2770 2780 2790 2800
NGDILSYEIH MPDPHITLTN VTSAVLSQKV THLIPFTNYS VTIVACSGGN
2810 2820 2830 2840 2850
GYLGGCTESL PTYVTTHPTV PQNVGPLSVI PLSESYVVIS WQPPSKPNGP
2860 2870 2880 2890 2900
NLRYELLRRK IQQPLASNPP EDLNRWHNIY SGTQWLYEDK GLSRFTTYEY
2910 2920 2930 2940 2950
MLFVHNSVGF TPSREVTVTT LAGLPERGAN LTASVLNHTA IDVRWAKPTV
2960 2970 2980 2990 3000
QDLQGEVEYY TLFWSSATSN DSLKILPDVN SHVIGHLKPN TEYWIFISVF
3010 3020 3030 3040 3050
NGVHSINSAG LHATTCDGEP QGMLPPEVVI INSTAVRVIW TSPSNPNGVV
3060 3070 3080 3090 3100
TEYSIYVNNK LYKTGMNVPG SFILRDLSPF TIYDIQVEVC TIYACVKSNG
3110 3120 3130 3140 3150
TQITTVEDTP SDIPTPTIRG ITSRSLQIDW VSPRKPNGII LGYDLLWKTW
3160 3170 3180 3190 3200
YPCAKTQKLV QDQSDELCKA VRCQKPESIC GHICYSSEAK VCCNGVLYNP
3210 3220 3230 3240 3250
KPGHRCCEEK YIPFVLNSTG VCCGGRIQEA QPNHQCCSGY YARILPGEVC
3260 3270 3280 3290 3300
CPDEQHNRVS VGIGDSCCGR MPYSTSGNQI CCAGRLHDGH GQKCCGRQIV
3310 3320 3330 3340 3350
SNDLECCGGE EGVVYNRLPG MFCCGQDYVN MSDTICCSAS SGESKAHIKK
3360 3370 3380 3390 3400
NDPVPVKCCE TELIPKSQKC CNGVGYNPLK YVCSDKISTG MMMKETKECR
3410 3420 3430 3440 3450
ILCPASMEAT EHCGRCDFNF TSHICTVIRG SHNSTGKASI EEMCSSAEET
3460 3470 3480 3490 3500
IHTGSVNTYS YTDVNLKPYM TYEYRISAWN SYGRGLSKAV RARTKEDVPQ
3510 3520 3530 3540 3550
GVSPPTWTKI DNLEDTIVLN WRKPIQSNGP IIYYILLRNG IERFRGTSLS
3560 3570 3580 3590 3600
FSDKEGIQPF QEYSYQLKAC TVAGCATSSK VVAATTQGVP ESILPPSITA
3610 3620 3630 3640 3650
LSAVALHLSW SVPEKSNGVI KEYQIRQVGK GLIHTDTTDR RQHTVTGLQP
3660 3670 3680 3690 3700
YTNYSFTLTA CTSAGCTSSE PFLGQTLQAA PEGVWVTPRH IIINSTTVEL
3710 3720 3730 3740 3750
YWSLPEKPNG LVSQYQLSRN GNLLFLGGSE EQNFTDKNLE PNSRYTYKLE
3760 3770 3780 3790 3800
VKTGGGSSAS DDYIVQTPMS TPEEIYPPYN ITVIGPYSIF VAWIPPGILI
3810 3820 3830 3840 3850
PEIPVEYNVL LNDGSVTPLA FSVGHHQSTL LENLTPFTQY EIRIQACQNG
3860 3870 3880 3890 3900
SCGVSSRMFV KTPEAAPMDL NSPVLKALGS ACIEIKWMPP EKPNGIIINY
3910 3920 3930 3940 3950
FIYRRPAGIE EESVLFVWSE GALEFMDEGD TLRPFTLYEY RVRACNSKGS
3960 3970 3980 3990 4000
VESLWSLTQT LEAPPQDFPA PWAQATSAHS VLLNWTKPES PNGIISHYRV
4010 4020 4030 4040 4050
VYQERPDDPT FNSPTVHAFT VKGTSHQAHL YGLEPFTTYR IGVVAANHAG
4060 4070 4080 4090 4100
EILSPWTLIQ TLESSPSGLR NFIVEQKENG RALLLQWSEP MRTNGVIKTY
4110 4120 4130 4140 4150
NIFSDGFLEY SGLNRQFLFR RLDPFTLYTL TLEACTRAGC AHSAPQPLWT
4160 4170 4180 4190 4200
DEAPPDSQLA PTVHSVKSTS VELSWSEPVN PNGKIIRYEV IRRCFEGKAW
4210 4220 4230 4240 4250
GNQTIQADEK IVFTEYNTER NTFMYNDTGL QPWTQCEYKI YTWNSAGHTC
4260 4270 4280 4290 4300
SSWNVVRTLQ APPEGLSPPV ISYVSMNPQK LLISWIPPEQ SNGIIQSYRL
4310 4320 4330 4340 4350
QRNEMLYPFS FDPVTFNYTD EELLPFSTYS YALQACTSGG CSTSKPTSIT
4360 4370 4380 4390 4400
TLEAAPSEVS PPDLWAVSAT QMNVCWSPPT VQNGKITKYL VRYDNKESLA
4410 4420 4430 4440 4450
GQGLCLLVSH LQPYSQYNFS LVACTNGGCT ASVSKSAWTM EALPENMDSP
4460 4470 4480 4490 4500
TLQVTGSESI EITWKPPRNP NGQIRSYELR RDGTIVYTGL ETRYRDFTLT
4510 4520 4530 4540 4550
PGVEYSYTVT ASNSQGGILS PLVKDRTSPS APSGMEPPKL QARGPQEILV
4560 4570 4580 4590 4600
NWDPPVRTNG DIINYTLFIR ELFERETKII HINTTHNSFG MQSYIVNQLK
4610 4620 4630 4640 4650
PFHRYEIRIQ ACTTLGCASS DWTFIQTPEI APLMQPPPHL EVQMAPGGFQ
4660 4670 4680 4690 4700
PTVSLLWTGP LQPNGKVLYY ELYRRQIATQ PRKSNPVLIY NGSSTSFIDS
4710 4720 4730 4740 4750
ELLPFTEYEY QVWAVNSAGK APSSWTWCRT GPAPPEGLRA PTFHVISSTQ
4760 4770 4780 4790 4800
AVVNISAPGK PNGIVSLYRL FSSSAHGAET VLSEGMATQQ TLHGLQAFTN
4810 4820 4830 4840 4850
YSIGVEACTC FNCCSKGPTA ELRTHPAPPS GLSSPQIGTL ASRTASFRWS
4860 4870 4880 4890 4900
PPMFPNGVIH SYELQFHVAC PPDSALPCTP SQIETKYTGL GQKASLGGLQ
4910 4920 4930 4940 4950
PYTTYKLRVV AHNEVGSTAS EWISFTTQKE LPQYRAPFSV DSNLSVVCVN
4960 4970 4980 4990 5000
WSDTFLLNGQ LKEYVLTDGG RRVYSGLDTT LYIPRTADKT FFFQVICTTD
5010 5020 5030 5040 5050
EGSVKTPLIQ YDTSTGLGLV LTTPGKKKGS RSKSTEFYSE LWFIVLMAML
5060 5070 5080 5090 5100
GLILLAIFLS LILQRKIHKE PYIRERPPLV PLQKRMSPLN VYPPGENHMG
5110 5120 5130 5140 5150
LADTKIPRSG TPVSIRSNRS ACVLRIPSQN QTSLTYSQGS LHRSVSQLMD
5160 5170 5180 5190 5200
IQDKKVLMDN SLWEAIMGHN SGLYVDEEDL MNAIKDFSSV TKERTTFTDT

HL
Length:5,202
Mass (Da):575,600
Last modified:April 4, 2006 - v3
Checksum:i06A123CA9C0F7F1D
GO
Isoform 2 (identifier: O75445-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1544-1546: IKA → KCV
     1547-5202: Missing.

Show »
Length:1,546
Mass (Da):171,074
Checksum:i434CD024FE19C0D6
GO
Isoform 3 (identifier: O75445-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     5099-5099: M → MFDSVADISDVSSNVTLKSYTMHFE

Show »
Length:5,226
Mass (Da):578,275
Checksum:i9E201BC41FA9FC0E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti237F → C in AAC23748 (PubMed:9624053).Curated1
Sequence conflicti237F → C in AAF75819 (PubMed:10729113).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07199644G → R in USH2A. 1 PublicationCorresponds to variant dbSNP:rs1381795491Ensembl.1
Natural variantiVAR_025760125A → T5 PublicationsCorresponds to variant dbSNP:rs10779261EnsemblClinVar.1
Natural variantiVAR_025761163C → Y in USH2A. 2 Publications1
Natural variantiVAR_071997180S → P in USH2A. 1 PublicationCorresponds to variant dbSNP:rs1171672823Ensembl.1
Natural variantiVAR_025762218V → E in USH2A. 2 PublicationsCorresponds to variant dbSNP:rs397518026EnsemblClinVar.1
Natural variantiVAR_025763230V → M in USH2A; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs45500891EnsemblClinVar.1
Natural variantiVAR_054557268G → R in USH2A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs111033280EnsemblClinVar.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:rs121912599EnsemblClinVar.1
Natural variantiVAR_054563334R → Q in USH2A. 1 PublicationCorresponds to variant dbSNP:rs758303489EnsemblClinVar.1
Natural variantiVAR_025765334R → W in USH2A. 6 PublicationsCorresponds to variant dbSNP:rs397517963EnsemblClinVar.1
Natural variantiVAR_025766346N → H in USH2A. 5 PublicationsCorresponds to variant dbSNP:rs369522997EnsemblClinVar.1
Natural variantiVAR_054564352T → I in USH2A. 2 PublicationsCorresponds to variant dbSNP:rs780308389EnsemblClinVar.1
Natural variantiVAR_054565357N → T in USH2A. 1 Publication1
Natural variantiVAR_054566365L → F1 Publication1
Natural variantiVAR_071998382V → M in USH2A. 1 PublicationCorresponds to variant dbSNP:rs750651679Ensembl.1
Natural variantiVAR_054567391S → I in USH2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs949082769Ensembl.1
Natural variantiVAR_025767419C → F in USH2A and RP39. 4 PublicationsCorresponds to variant dbSNP:rs121912600EnsemblClinVar.1
Natural variantiVAR_064761453T → I Found in a renal cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_054568464R → C in USH2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_025768478E → D in RP39 and USH2A; unknown pathological significance. 5 Publications