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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

  1. collagen binding Source: HGNC
  2. myosin binding Source: BHF-UCL

GO - Biological processi

  1. hair cell differentiation Source: BHF-UCL
  2. inner ear receptor cell differentiation Source: BHF-UCL
  3. maintenance of organ identity Source: HGNC
  4. photoreceptor cell maintenance Source: HGNC
  5. response to stimulus Source: UniProtKB-KW
  6. sensory perception of light stimulus Source: HGNC
  7. sensory perception of sound Source: HGNC
  8. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Hearing, 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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:12601. USH2A.

Subcellular locationi

Cell projectionstereocilium membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Note: Probable component of the interstereocilia ankle links in the inner ear sensory cells.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini32 – 50425011ExtracellularSequence AnalysisAdd
BLAST
Transmembranei5043 – 506321HelicalSequence AnalysisAdd
BLAST
Topological domaini5064 – 5202139CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: BHF-UCL
  2. basement membrane Source: HGNC
  3. cytoplasm Source: HGNC
  4. integral component of membrane Source: UniProtKB-KW
  5. stereocilia ankle link complex Source: BHF-UCL
  6. stereocilium bundle Source: BHF-UCL
  7. stereocilium membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Usher syndrome 2A25 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441G → R in USH2A. 1 Publication
VAR_071996
Natural varianti163 – 1631C → Y in USH2A. 2 Publications
VAR_025761
Natural varianti180 – 1801S → P in USH2A. 1 Publication
VAR_071997
Natural varianti218 – 2181V → E in USH2A. 2 Publications
VAR_025762
Natural varianti230 – 2301V → M in USH2A; unknown pathological significance. 4 Publications
Corresponds to variant rs45500891 [ dbSNP | Ensembl ].
VAR_025763
Natural varianti268 – 2681G → R in USH2A; unknown pathological significance. 2 Publications
VAR_054557
Natural varianti280 – 2801L → F in USH2A. 1 Publication
VAR_054558
Natural varianti284 – 2841E → K in USH2A. 1 Publication
VAR_054559
Natural varianti303 – 3031R → C in USH2A. 1 Publication
VAR_054560
Natural varianti303 – 3031R → S in USH2A. 1 Publication
VAR_054561
Natural varianti307 – 3071S → I in USH2A; unknown pathological significance. 1 Publication
VAR_054562
Natural varianti319 – 3191C → Y in USH2A. 1 Publication
VAR_025764
Natural varianti334 – 3341R → Q in USH2A. 1 Publication
VAR_054563
Natural varianti334 – 3341R → W in USH2A. 6 Publications
VAR_025765
Natural varianti346 – 3461N → H in USH2A. 5 Publications
VAR_025766
Natural varianti352 – 3521T → I in USH2A. 2 Publications
VAR_054564
Natural varianti357 – 3571N → T in USH2A. 1 Publication
VAR_054565
Natural varianti382 – 3821V → M in USH2A. 1 Publication
VAR_071998
Natural varianti391 – 3911S → I in USH2A; unknown pathological significance. 1 Publication
VAR_054567
Natural varianti419 – 4191C → F in USH2A and RP39. 4 Publications
VAR_025767
Natural varianti464 – 4641R → C in USH2A; unknown pathological significance. 1 Publication
VAR_054568
Natural varianti478 – 4781E → D in RP39 and USH2A; unknown pathological significance. 5 Publications
Corresponds to variant rs35730265 [ dbSNP | Ensembl ].
VAR_025768
Natural varianti516 – 5161G → V in USH2A; unknown pathological significance.
VAR_054570
Natural varianti517 – 5171R → T in USH2A; unknown pathological significance. 1 Publication
VAR_054571
Natural varianti536 – 5361C → R in USH2A; abolishes interaction with collagen IV. 3 Publications
VAR_025769
Natural varianti555 – 5551L → V in USH2A. 2 Publications
Corresponds to variant rs35818432 [ dbSNP | Ensembl ].
VAR_025770
Natural varianti575 – 5751C → S in USH2A; unknown pathological significance. 1 Publication
VAR_054572
Natural varianti587 – 5871Missing in USH2A; unknown pathological significance. 1 Publication
VAR_054573
Natural varianti610 – 6101H → P in USH2A. 1 Publication
VAR_025771
Natural varianti691 – 6911C → Y in USH2A. 1 Publication
VAR_071999
Natural varianti713 – 7131G → R in USH2A; abolishes interaction with collagen IV; unknown pathological significance. 7 Publications
Corresponds to variant rs696723 [ dbSNP | Ensembl ].
VAR_025774
Natural varianti759 – 7591C → F in RP39 and USH2A. 9 Publications
Corresponds to variant rs80338902 [ dbSNP | Ensembl ].
VAR_025775
Natural varianti761 – 7611P → R in USH2A. 1 Publication
VAR_025776
Natural varianti1059 – 10591P → L in USH2A; unknown pathological significance. 1 Publication
VAR_054578
Natural varianti1212 – 12121P → L in USH2A. 1 Publication
VAR_054579
Natural varianti1369 – 13691Missing in USH2A. 1 Publication
VAR_072001
Natural varianti1515 – 15151T → M in USH2A. 1 Publication
VAR_025779
Natural varianti1734 – 17341G → R in USH2A. 1 Publication
VAR_072003
Natural varianti1777 – 17771R → W in USH2A. 1 Publication
VAR_072004
Natural varianti1833 – 18331V → E in USH2A. 1 Publication
VAR_054584
Natural varianti1836 – 18361P → T in USH2A; unknown pathological significance. 1 Publication
VAR_072005
Natural varianti1840 – 18401G → V in USH2A. 1 Publication
VAR_072006
Natural varianti1843 – 18431P → L in USH2A. 1 Publication
VAR_072007
Natural varianti1861 – 18611G → S in USH2A. 1 Publication
VAR_072008
Natural varianti1953 – 19531A → G in USH2A; unknown pathological significance. 1 Publication
VAR_072009
Natural varianti2080 – 20801K → N in USH2A; unknown pathological significance. 2 Publications
Corresponds to variant rs114402911 [ dbSNP | Ensembl ].
VAR_054585
Natural varianti2116 – 21161H → R in USH2A; unknown pathological significance. 1 Publication
VAR_072011
Natural varianti2128 – 21281C → F in USH2A; unknown pathological significance. 1 Publication
VAR_072012
Natural varianti2128 – 21281C → Y in USH2A; unknown pathological significance. 1 Publication
VAR_072013
Natural varianti2196 – 21961S → T in USH2A; unknown pathological significance. 1 Publication
VAR_072014
Natural varianti2238 – 22381E → A in USH2A; unknown pathological significance. 3 Publications
Corresponds to variant rs41277212 [ dbSNP | Ensembl ].
VAR_054587
Natural varianti2249 – 22491A → D in USH2A. 1 Publication
VAR_054588
Natural varianti2260 – 22601S → P in USH2A; unknown pathological significance. 1 Publication
VAR_072016
Natural varianti2265 – 22662EY → D in USH2A.
VAR_054589
Natural varianti2292 – 22921R → H in USH2A; unknown pathological significance. 2 Publications
Corresponds to variant rs41277210 [ dbSNP | Ensembl ].
VAR_054590
Natural varianti2354 – 23541R → H in USH2A. 1 Publication
VAR_054591
Natural varianti2562 – 25621V → A in USH2A; unknown pathological significance. 2 Publications
Corresponds to variant rs56385601 [ dbSNP | Ensembl ].
VAR_054592
Natural varianti2639 – 26391S → P in USH2A; unknown pathological significance. 1 Publication
VAR_072020
Natural varianti2738 – 27381D → N in USH2A. 1 Publication
VAR_072021
Natural varianti2744 – 27441W → C in USH2A. 1 Publication
VAR_072022
Natural varianti2752 – 27521G → R in USH2A. 1 Publication
VAR_072023
Natural varianti2786 – 27861F → S in USH2A; unknown pathological significance. 1 Publication
VAR_072024
Natural varianti2795 – 27951A → S in USH2A. 1 Publication
VAR_054593
Natural varianti3124 – 31241R → G in USH2A; unknown pathological significance. 1 Publication
VAR_054597
Natural varianti3251 – 32511C → R in USH2A. 1 Publication
VAR_054598
Natural varianti3263 – 32697Missing in USH2A; unknown pathological significance. 1 Publication
VAR_072026
Natural varianti3267 – 32671C → R in USH2A. 1 Publication
VAR_054599
Natural varianti3282 – 32821C → R in USH2A. 1 Publication
VAR_054600
Natural varianti3448 – 34481E → K in USH2A; unknown pathological significance. 1 Publication
VAR_072028
Natural varianti3462 – 34621T → I in USH2A; unknown pathological significance. 1 Publication
VAR_072029
Natural varianti3472 – 34721Y → YY in USH2A. 1 Publication
VAR_054601
Natural varianti3479 – 34791W → C in USH2A; unknown pathological significance. 1 Publication
VAR_072030
Natural varianti3504 – 35041P → T in USH2A. 1 Publication
VAR_054602
Natural varianti3515 – 35151D → G in USH2A. 1 Publication
VAR_072031
Natural varianti3521 – 35211W → R in USH2A. 1 Publication
VAR_054603
Natural varianti3529 – 35291G → S in USH2A; unknown pathological significance. 1 Publication
VAR_072032
Natural varianti3546 – 35461G → R in USH2A. 1 Publication
VAR_072033
Natural varianti3571 – 35711T → M in USH2A. 3 Publications
VAR_054604
Natural varianti3747 – 37471Y → C in USH2A. 1 Publication
VAR_072037
Natural varianti3844 – 38441I → M in USH2A; unknown pathological significance. 1 Publication
VAR_072038
Natural varianti3894 – 38941N → D in USH2A. 1 Publication
VAR_072039
Natural varianti3895 – 38951G → E in USH2A. 1 Publication
VAR_054608
Natural varianti3904 – 39041R → K in USH2A; unknown pathological significance. 1 Publication
VAR_072040
Natural varianti3976 – 39761T → M in USH2A. 1 Publication
VAR_054609
Natural varianti4054 – 40541S → I in USH2A. 1 Publication
VAR_054610
Natural varianti4115 – 41151R → C in USH2A and RP39; associated with M-4425. 4 Publications
VAR_025780
Natural varianti4174 – 41741S → R in USH2A; unknown pathological significance. 1 Publication
VAR_072042
Natural varianti4232 – 42321P → R in USH2A. 1 Publication
VAR_054611
Natural varianti4269 – 42691P → R in USH2A; unknown pathological significance. 1 Publication
VAR_072044
Natural varianti4337 – 43371T → M in USH2A. 1 Publication
VAR_054612
Natural varianti4425 – 44251T → M in USH2Aand RP39; associated with C-4115. 3 Publications
Corresponds to variant rs201238640 [ dbSNP | Ensembl ].
VAR_025781
Natural varianti4433 – 44331V → L in USH2A; unknown pathological significance. 2 Publications
Corresponds to variant rs111033381 [ dbSNP | Ensembl ].
VAR_054613
Natural varianti4439 – 44391T → I in USH2A. 2 Publications
VAR_054614
Natural varianti4445 – 44495ENMDS → DL in USH2A; unknown pathological significance. 1 Publication
VAR_072045
Natural varianti4487 – 44871Y → C in USH2A. 1 Publication
VAR_054615
Natural varianti4570 – 45701R → H in USH2A; unknown pathological significance. 1 Publication
VAR_072048
Natural varianti4592 – 45921Q → H in USH2A. 1 Publication
VAR_054616
Natural varianti4662 – 46621Q → E in USH2A; unknown pathological significance. 1 Publication
VAR_072051
Natural varianti4692 – 46921G → R in USH2A; unknown pathological significance. 1 Publication
Corresponds to variant rs45549044 [ dbSNP | Ensembl ].
VAR_061351
Natural varianti4763 – 47631G → R in USH2A; unknown pathological significance. 1 Publication
VAR_072052
Natural varianti4778 – 47781A → D in USH2A; unknown pathological significance. 1 Publication
VAR_072053
Natural varianti4795 – 47951L → R in USH2A. 1 Publication
VAR_054618
Natural varianti4808 – 48081C → R in USH2A; unknown pathological significance. 1 Publication
VAR_072054
Natural varianti4817 – 48171G → R in USH2A; unknown pathological significance. 1 Publication
VAR_072055
Natural varianti4818 – 48181P → L in USH2A. 1 Publication
Corresponds to variant rs143344549 [ dbSNP | Ensembl ].
VAR_054619
Natural varianti4918 – 49181T → M in USH2A; unknown pathological significance. 1 Publication
VAR_072060
Natural varianti5143 – 51431R → C in USH2A. 1 Publication
VAR_072064
Retinitis pigmentosa 3910 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti419 – 4191C → F in USH2A and RP39. 4 Publications
VAR_025767
Natural varianti478 – 4781E → D in RP39 and USH2A; unknown pathological significance. 5 Publications
Corresponds to variant rs35730265 [ dbSNP | Ensembl ].
VAR_025768
Natural varianti739 – 7391F → L in RP39; unknown pathological significance. 1 Publication
VAR_054575
Natural varianti759 – 7591C → F in RP39 and USH2A. 9 Publications
Corresponds to variant rs80338902 [ dbSNP | Ensembl ].
VAR_025775
Natural varianti911 – 9111T → N in RP39; unknown pathological significance. 1 Publication
VAR_054576
Natural varianti934 – 9341C → W in RP39. 1 Publication
VAR_072000
Natural varianti1442 – 14421F → S in RP39. 1 Publication
VAR_072002
Natural varianti1470 – 14701L → R in RP39; unknown pathological significance. 1 Publication
VAR_054581
Natural varianti1859 – 18591F → C in RP39. 1 Publication
VAR_068354
Natural varianti1978 – 19781P → S in RP39; unknown pathological significance. 1 Publication
VAR_072010
Natural varianti2237 – 22371D → Y in RP39; unknown pathological significance. 1 Publication
VAR_072015
Natural varianti2460 – 24601R → H in RP39. 1 Publication
VAR_068355
Natural varianti2573 – 25731R → H in RP39; unknown pathological significance. 1 Publication
VAR_072019
Natural varianti2930 – 29301N → K in RP39; unknown pathological significance. 1 Publication
VAR_072025
Natural varianti3358 – 33581C → Y in RP39; unknown pathological significance. 2 Publications
VAR_068356
Natural varianti3384 – 33841S → Y in RP39; unknown pathological significance. 1 Publication
VAR_072027
Natural varianti3606 – 36061L → P in RP39; unknown pathological significance. 1 Publication
VAR_072034
Natural varianti3618 – 36181G → S in RP39; unknown pathological significance. 1 Publication
VAR_072035
Natural varianti3669 – 36691S → R in RP39. 1 Publication
VAR_068357
Natural varianti3719 – 37191R → H in RP39; unknown pathological significance. 1 Publication
VAR_072036
Natural varianti4094 – 40941N → K in RP39; unknown pathological significance. 1 Publication
VAR_072041
Natural varianti4115 – 41151R → C in USH2A and RP39; associated with M-4425. 4 Publications
VAR_025780
Natural varianti4192 – 41921R → H in RP39; unknown pathological significance. 2 Publications
Corresponds to variant rs199605265 [ dbSNP | Ensembl ].
VAR_068358
Natural varianti4248 – 42481H → N in RP39; unknown pathological significance. 1 Publication
VAR_072043
Natural varianti4425 – 44251T → M in USH2Aand RP39; associated with C-4115. 3 Publications
Corresponds to variant rs201238640 [ dbSNP | Ensembl ].
VAR_025781
Natural varianti4447 – 44471M → V in RP39; unknown pathological significance. 1 Publication
VAR_072046
Natural varianti4674 – 46741R → G in RP39. 1 Publication
VAR_038369
Natural varianti4840 – 48401L → P in RP39; unknown pathological significance. 1 Publication
VAR_072056
Natural varianti4844 – 48441T → M in RP39; unknown pathological significance. 1 Publication
VAR_072057
Natural varianti5063 – 50631L → R in RP39. 1 Publication
VAR_072063
Natural varianti5143 – 51431R → H in RP39; unknown pathological significance. 1 Publication
VAR_072065
Natural varianti5145 – 51451V → I in RP39; unknown pathological significance. 1 Publication
VAR_072066
Natural varianti5188 – 51881S → G in RP39; unknown pathological significance. 1 Publication
VAR_072067

Keywords - Diseasei

Deafness, Disease mutation, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3131Sequence AnalysisAdd
BLAST
Chaini32 – 52025171UsherinPRO_0000229804Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi361 – 3611N-linked (GlcNAc...)Sequence Analysis
Glycosylationi451 – 4511N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi518 ↔ 527By similarity
Disulfide bondi520 ↔ 536By similarity
Disulfide bondi538 ↔ 549By similarity
Disulfide bondi552 ↔ 572By similarity
Disulfide bondi575 ↔ 584By similarity
Disulfide bondi577 ↔ 605By similarity
Glycosylationi587 – 5871N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi608 ↔ 617By similarity
Glycosylationi611 – 6111N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi620 ↔ 638By similarity
Disulfide bondi641 ↔ 655By similarity
Disulfide bondi643 ↔ 662By similarity
Glycosylationi650 – 6501N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi664 ↔ 673By similarity
Disulfide bondi676 ↔ 691By similarity
Disulfide bondi694 ↔ 708By similarity
Disulfide bondi696 ↔ 715By similarity
Glycosylationi697 – 6971N-linked (GlcNAc...)Sequence Analysis
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
Glycosylationi839 – 8391N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi847 ↔ 861By similarity
Disulfide bondi849 ↔ 868By similarity
Glycosylationi856 – 8561N-linked (GlcNAc...)Sequence Analysis
Glycosylationi862 – 8621N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi870 ↔ 879By similarity
Disulfide bondi882 ↔ 897By similarity
Glycosylationi888 – 8881N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi900 ↔ 913By similarity
Disulfide bondi902 ↔ 920By similarity
Disulfide bondi922 ↔ 931By similarity
Disulfide bondi934 ↔ 948By similarity
Glycosylationi944 – 9441N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi951 ↔ 963By similarity
Disulfide bondi953 ↔ 970By similarity
Disulfide bondi972 ↔ 982By similarity
Disulfide bondi985 ↔ 999By similarity
Disulfide bondi1002 ↔ 1014By similarity
Disulfide bondi1004 ↔ 1021By similarity
Glycosylationi1011 – 10111N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1023 ↔ 1032By similarity
Disulfide bondi1035 ↔ 1050By similarity
Glycosylationi1071 – 10711N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1151 – 11511N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1174 – 11741N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1379 – 13791N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1388 – 13881N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1479 – 14791N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1635 – 16351N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1672 ↔ 1709By similarity
Glycosylationi1779 – 17791N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1862 ↔ 1891By similarity
Glycosylationi1903 – 19031N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2011 – 20111N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2014 – 20141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2048 – 20481N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2130 – 21301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2182 – 21821N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2195 – 21951N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2258 – 22581N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2285 – 22851N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2322 – 23221N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2377 – 23771N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2382 – 23821N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2407 – 24071N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2413 – 24131N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2581 – 25811N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2584 – 25841N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2656 – 26561N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2710 – 27101N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2770 – 27701N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2788 – 27881N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2930 – 29301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2937 – 29371N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2970 – 29701N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3032 – 30321N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3099 – 30991N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3217 – 32171N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3330 – 33301N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi3371 ↔ 3444By similarity
Disulfide bondi3399 ↔ 3425By similarity
Glycosylationi3419 – 34191N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3433 – 34331N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3653 – 36531N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3694 – 36941N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3733 – 37331N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3780 – 37801N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3849 – 38491N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3984 – 39841N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4202 – 42021N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4226 – 42261N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4317 – 43171N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4418 – 44181N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4564 – 45641N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4583 – 45831N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4691 – 46911N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4754 – 47541N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4800 – 48001N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4943 – 49431N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4950 – 49501N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiO75445.
PRIDEiO75445.

PTM databases

PhosphoSiteiO75445.

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

BgeeiO75445.
CleanExiHS_USH2A.
GenevestigatoriO75445.

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

Protein-protein interaction databases

BioGridi113242. 1 interaction.
STRINGi9606.ENSP00000305941.

Structurei

3D structure databases

ProteinModelPortaliO75445.
SMRiO75445. Positions 326-1052, 1522-1903, 2500-2718, 3415-3574, 3729-4057, 4262-4675.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini271 – 517247Laminin N-terminalPROSITE-ProRule annotationAdd
BLAST
Domaini518 – 57457Laminin EGF-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini575 – 64066Laminin EGF-like 2PROSITE-ProRule annotationAdd
BLAST
Domaini641 – 69353Laminin EGF-like 3PROSITE-ProRule annotationAdd
BLAST
Domaini694 – 74653Laminin EGF-like 4PROSITE-ProRule annotationAdd
BLAST
Domaini747 – 79448Laminin EGF-like 5PROSITE-ProRule annotationAdd
BLAST
Domaini795 – 84652Laminin EGF-like 6PROSITE-ProRule annotationAdd
BLAST
Domaini847 – 89953Laminin EGF-like 7PROSITE-ProRule annotationAdd
BLAST
Domaini900 – 95051Laminin EGF-like 8PROSITE-ProRule annotationAdd
BLAST
Domaini951 – 100151Laminin EGF-like 9PROSITE-ProRule annotationAdd
BLAST
Domaini1002 – 105251Laminin EGF-like 10PROSITE-ProRule annotationAdd
BLAST
Domaini1058 – 114689Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini1148 – 124497Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini1245 – 1363119Fibronectin type-III 3PROSITE-ProRule annotationAdd
BLAST
Domaini1364 – 1468105Fibronectin type-III 4PROSITE-ProRule annotationAdd
BLAST
Domaini1517 – 1709193Laminin G-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini1714 – 1891178Laminin G-like 2PROSITE-ProRule annotationAdd
BLAST
Domaini1869 – 195587Fibronectin type-III 5PROSITE-ProRule annotationAdd
BLAST
Domaini1957 – 205498Fibronectin type-III 6PROSITE-ProRule annotationAdd
BLAST
Domaini2055 – 214490Fibronectin type-III 7PROSITE-ProRule annotationAdd
BLAST
Domaini2145 – 223995Fibronectin type-III 8PROSITE-ProRule annotationAdd
BLAST
Domaini2243 – 233088Fibronectin type-III 9PROSITE-ProRule annotationAdd
BLAST
Domaini2331 – 2433103Fibronectin type-III 10PROSITE-ProRule annotationAdd
BLAST
Domaini2437 – 253195Fibronectin type-III 11PROSITE-ProRule annotationAdd
BLAST
Domaini2535 – 262288Fibronectin type-III 12PROSITE-ProRule annotationAdd
BLAST
Domaini2624 – 272299Fibronectin type-III 13PROSITE-ProRule annotationAdd
BLAST
Domaini2726 – 281994Fibronectin type-III 14PROSITE-ProRule annotationAdd
BLAST
Domaini2820 – 2923104Fibronectin type-III 15PROSITE-ProRule annotationAdd
BLAST
Domaini2927 – 301892Fibronectin type-III 16PROSITE-ProRule annotationAdd
BLAST
Domaini3022 – 311291Fibronectin type-III 17PROSITE-ProRule annotationAdd
BLAST
Domaini3113 – 320997Fibronectin type-III 18PROSITE-ProRule annotationAdd
BLAST
Domaini3403 – 349795Fibronectin type-III 19PROSITE-ProRule annotationAdd
BLAST
Domaini3501 – 358989Fibronectin type-III 20PROSITE-ProRule annotationAdd
BLAST
Domaini3592 – 368291Fibronectin type-III 21PROSITE-ProRule annotationAdd
BLAST
Domaini3684 – 377087Fibronectin type-III 22PROSITE-ProRule annotationAdd
BLAST
Domaini3774 – 386592Fibronectin type-III 23PROSITE-ProRule annotationAdd
BLAST
Domaini3866 – 396398Fibronectin type-III 24PROSITE-ProRule annotationAdd
BLAST
Domaini3964 – 4067104Fibronectin type-III 25PROSITE-ProRule annotationAdd
BLAST
Domaini4068 – 415386Fibronectin type-III 26PROSITE-ProRule annotationAdd
BLAST
Domaini4157 – 4261105Fibronectin type-III 27PROSITE-ProRule annotationAdd
BLAST
Domaini4262 – 435796Fibronectin type-III 28PROSITE-ProRule annotationAdd
BLAST
Domaini4358 – 444588Fibronectin type-III 29PROSITE-ProRule annotationAdd
BLAST
Domaini4446 – 453085Fibronectin type-III 30PROSITE-ProRule annotationAdd
BLAST
Domaini4534 – 463097Fibronectin type-III 31PROSITE-ProRule annotationAdd
BLAST
Domaini4636 – 473398Fibronectin type-III 32PROSITE-ProRule annotationAdd
BLAST
Domaini4734 – 482794Fibronectin type-III 33PROSITE-ProRule annotationAdd
BLAST
Domaini4828 – 4927100Fibronectin type-III 34PROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi5200 – 52023PDZ-binding

Domaini

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

Sequence similaritiesi

Contains 35 fibronectin type-III domains.PROSITE-ProRule annotation
Contains 10 laminin EGF-like domains.PROSITE-ProRule annotation
Contains 2 laminin G-like domains.PROSITE-ProRule annotation
Contains 1 laminin N-terminal domain.PROSITE-ProRule annotation

Keywords - Domaini

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

Phylogenomic databases

eggNOGiNOG245744.
GeneTreeiENSGT00780000121851.
HOGENOMiHOG000124780.
HOVERGENiHBG094138.
InParanoidiO75445.
OMAiEIRIQAC.
OrthoDBiEOG783MTD.
PhylomeDBiO75445.
TreeFami