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O75445

- USH2A_HUMAN

UniProt

O75445 - USH2A_HUMAN

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Protein

Usherin

Gene
USH2A
Organism
Homo sapiens (Human)
Status
Reviewed - 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
  3. protein binding Source: UniProtKB

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; Single-pass type I membrane protein
Note: Probable component of the interstereocilia ankle links in the inner ear sensory cells.1 Publication
Isoform 2 : Secreted 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini32 – 50425011Extracellular Reviewed predictionAdd
BLAST
Transmembranei5043 – 506321Helical; Reviewed predictionAdd
BLAST
Topological domaini5064 – 5202139Cytoplasmic Reviewed predictionAdd
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 2A (USH2A) [MIM:276901]: USH 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.16 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti163 – 1631C → Y in USH2A. 2 Publications
VAR_025761
Natural varianti218 – 2181V → E in USH2A. 2 Publications
VAR_025762
Natural varianti230 – 2301V → M in USH2A; may be a common polymorphism. 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. 4 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 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. 1 Publication
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. 1 Publication
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 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 varianti1515 – 15151T → M in USH2A. 1 Publication
VAR_025779
Natural varianti1833 – 18331V → E in USH2A. 1 Publication
VAR_054584
Natural varianti2249 – 22491A → D in USH2A. 1 Publication
VAR_054588
Natural varianti2265 – 22662EY → D in USH2A. 1 Publication
VAR_054589
Natural varianti2354 – 23541R → H in USH2A. 1 Publication
VAR_054591
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 varianti3267 – 32671C → R in USH2A. 1 Publication
VAR_054599
Natural varianti3282 – 32821C → R in USH2A. 1 Publication
VAR_054600
Natural varianti3472 – 34721Y → YY in USH2A. 1 Publication
VAR_054601
Natural varianti3504 – 35041P → T in USH2A. 1 Publication
VAR_054602
Natural varianti3521 – 35211W → R in USH2A. 1 Publication
VAR_054603
Natural varianti3571 – 35711T → M in USH2A. 2 Publications
VAR_054604
Natural varianti3895 – 38951G → E in USH2A. 1 Publication
VAR_054608
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 varianti4232 – 42321P → R in USH2A. 1 Publication
VAR_054611
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 varianti4439 – 44391T → I in USH2A. 2 Publications
VAR_054614
Natural varianti4487 – 44871Y → C in USH2A. 1 Publication
VAR_054615
Natural varianti4592 – 45921Q → H in USH2A. 1 Publication
VAR_054616
Natural varianti4795 – 47951L → R in USH2A. 1 Publication
VAR_054618
Natural varianti4818 – 48181P → L in USH2A. 1 Publication
Corresponds to variant rs143344549 [ dbSNP | Ensembl ].
VAR_054619
Retinitis pigmentosa 39 (RP39) [MIM:613809]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.7 Publications
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 varianti1470 – 14701L → R in RP39; unknown pathological significance. 1 Publication
VAR_054581
Natural varianti1859 – 18591F → C in RP39. 1 Publication
VAR_068354
Natural varianti2460 – 24601R → H in RP39. 1 Publication
VAR_068355
Natural varianti3358 – 33581C → Y in RP39. 1 Publication
VAR_068356
Natural varianti3669 – 36691S → R in RP39. 1 Publication
VAR_068357
Natural varianti4115 – 41151R → C in USH2A and RP39; associated with M-4425. 4 Publications
VAR_025780
Natural varianti4192 – 41921R → H in RP39. 1 Publication
Corresponds to variant rs199605265 [ dbSNP | Ensembl ].
VAR_068358
Natural varianti4425 – 44251T → M in USH2Aand RP39; associated with C-4115. 3 Publications
Corresponds to variant rs201238640 [ dbSNP | Ensembl ].
VAR_025781
Natural varianti4674 – 46741R → G in RP39. 1 Publication
VAR_038369

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 – 3131 Reviewed predictionAdd
BLAST
Chaini32 – 52025171UsherinPRO_0000229804Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi361 – 3611N-linked (GlcNAc...) Reviewed prediction
Glycosylationi451 – 4511N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi518 ↔ 527 By similarity
Disulfide bondi520 ↔ 536 By similarity
Disulfide bondi538 ↔ 549 By similarity
Disulfide bondi552 ↔ 572 By similarity
Disulfide bondi575 ↔ 584 By similarity
Disulfide bondi577 ↔ 605 By similarity
Glycosylationi587 – 5871N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi608 ↔ 617 By similarity
Glycosylationi611 – 6111N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi620 ↔ 638 By similarity
Disulfide bondi641 ↔ 655 By similarity
Disulfide bondi643 ↔ 662 By similarity
Glycosylationi650 – 6501N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi664 ↔ 673 By similarity
Disulfide bondi676 ↔ 691 By similarity
Disulfide bondi694 ↔ 708 By similarity
Disulfide bondi696 ↔ 715 By similarity
Glycosylationi697 – 6971N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi717 ↔ 726 By similarity
Disulfide bondi729 ↔ 744 By similarity
Disulfide bondi747 ↔ 759 By similarity
Disulfide bondi749 ↔ 766 By similarity
Disulfide bondi768 ↔ 777 By similarity
Disulfide bondi780 ↔ 792 By similarity
Disulfide bondi795 ↔ 808 By similarity
Disulfide bondi797 ↔ 815 By similarity
Disulfide bondi817 ↔ 826 By similarity
Disulfide bondi829 ↔ 844 By similarity
Glycosylationi839 – 8391N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi847 ↔ 861 By similarity
Disulfide bondi849 ↔ 868 By similarity
Glycosylationi856 – 8561N-linked (GlcNAc...) Reviewed prediction
Glycosylationi862 – 8621N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi870 ↔ 879 By similarity
Disulfide bondi882 ↔ 897 By similarity
Glycosylationi888 – 8881N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi900 ↔ 913 By similarity
Disulfide bondi902 ↔ 920 By similarity
Disulfide bondi922 ↔ 931 By similarity
Disulfide bondi934 ↔ 948 By similarity
Glycosylationi944 – 9441N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi951 ↔ 963 By similarity
Disulfide bondi953 ↔ 970 By similarity
Disulfide bondi972 ↔ 982 By similarity
Disulfide bondi985 ↔ 999 By similarity
Disulfide bondi1002 ↔ 1014 By similarity
Disulfide bondi1004 ↔ 1021 By similarity
Glycosylationi1011 – 10111N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1023 ↔ 1032 By similarity
Disulfide bondi1035 ↔ 1050 By similarity
Glycosylationi1071 – 10711N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1151 – 11511N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1174 – 11741N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1379 – 13791N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1388 – 13881N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1479 – 14791N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1635 – 16351N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1672 ↔ 1709 By similarity
Glycosylationi1779 – 17791N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1862 ↔ 1891 By similarity
Glycosylationi1903 – 19031N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2011 – 20111N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2014 – 20141N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2048 – 20481N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2130 – 21301N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2182 – 21821N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2195 – 21951N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2258 – 22581N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2285 – 22851N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2322 – 23221N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2377 – 23771N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2382 – 23821N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2407 – 24071N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2413 – 24131N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2581 – 25811N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2584 – 25841N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2656 – 26561N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2710 – 27101N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2770 – 27701N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2788 – 27881N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2930 – 29301N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2937 – 29371N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2970 – 29701N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3032 – 30321N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3099 – 30991N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3217 – 32171N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3330 – 33301N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi3371 ↔ 3444 By similarity
Disulfide bondi3399 ↔ 3425 By similarity
Glycosylationi3419 – 34191N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3433 – 34331N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3653 – 36531N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3694 – 36941N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3733 – 37331N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3780 – 37801N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3849 – 38491N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3984 – 39841N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4202 – 42021N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4226 – 42261N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4317 – 43171N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4418 – 44181N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4564 – 45641N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4583 – 45831N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4691 – 46911N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4754 – 47541N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4800 – 48001N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4943 – 49431N-linked (GlcNAc...) Reviewed prediction
Glycosylationi4950 – 49501N-linked (GlcNAc...) Reviewed prediction

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.

Family & Domainsi

Domains and Repeats

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

Keywords - Domaini

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

Phylogenomic databases

eggNOGiNOG245744.
HOGENOMiHOG000124780.
HOVERGENiHBG094138.
OMAiEIRIQAC.
OrthoDBiEOG783MTD.
PhylomeDBiO75445.
TreeFamiTF330287.

Family and domain databases

Gene3Di2.60.120.200. 3 hits.
2.60.40.10. 35 hits.
InterProiIPR008985. ConA-like_lec_gl_sf.
IPR013320. ConA-like_subgrp.
IPR002049. EGF_laminin.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR006558. LamG-like.
IPR001791. Laminin_G.
IPR008211. Laminin_N.
IPR026915. USH2A.
[Graphical view]
PANTHERiPTHR10574:SF170. PTHR10574:SF170. 1 hit.
PfamiPF00041. fn3. 20 hits.
PF00053. Laminin_EGF. 10 hits.
PF02210. Laminin_G_2. 2 hits.
PF00055. Laminin_N. 1 hit.
[Graphical view]
SMARTiSM00180. EGF_Lam. 10 hits.
SM00060. FN3. 33 hits.
SM00282. LamG. 2 hits.
SM00560. LamGL. 1 hit.
SM00136. LamNT. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 23 hits.
SSF49899. SSF49899. 3 hits.
PROSITEiPS00022. 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.
[Graphical view]

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. Align

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.

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MNCPVLSLGS GFLFQVIEML IFAYFASISL TESRGLFPRL ENVGAFKKVS     50
IVPTQAVCGL PDRSTFCHSS AAAESIQFCT QRFCIQDCPY RSSHPTYTAL 100
FSAGLSSCIT PDKNDLHPNA HSNSASFIFG NHKSCFSSPP SPKLMASFTL 150
AVWLKPEQQG VMCVIEKTVD GQIVFKLTIS EKETMFYYRT VNGLQPPIKV 200
MTLGRILVKK WIHLSVQVHQ TKISFFINGV EKDHTPFNAR TLSGSITDFA 250
SGTVQIGQSL NGLEQFVGRM QDFRLYQVAL TNREILEVFS GDLLRLHAQS 300
HCRCPGSHPR VHPLAQRYCI PNDAGDTADN RVSRLNPEAH PLSFVNDNDV 350
GTSWVSNVFT NITQLNQGVT ISVDLENGQY QVFYIIIQFF SPQPTEIRIQ 400
RKKENSLDWE DWQYFARNCG AFGMKNNGDL EKPDSVNCLQ LSNFTPYSRG 450
NVTFSILTPG PNYRPGYNNF YNTPSLQEFV KATQIRFHFH GQYYTTETAV 500
NLRHRYYAVD EITISGRCQC HGHADNCDTT SQPYRCLCSQ ESFTEGLHCD 550
RCLPLYNDKP FRQGDQVYAF NCKPCQCNSH SKSCHYNISV DPFPFEHFRG 600
GGGVCDDCEH NTTGRNCELC KDYFFRQVGA DPSAIDVCKP CDCDTVGTRN 650
GSILCDQIGG QCNCKRHVSG RQCNQCQNGF YNLQELDPDG CSPCNCNTSG 700
TVDGDITCHQ NSGQCKCKAN VIGLRCDHCN FGFKFLRSFN DVGCEPCQCN 750
LHGSVNKFCN PHSGQCECKK EAKGLQCDTC RENFYGLDVT NCKACDCDTA 800
GSLPGTVCNA KTGQCICKPN VEGRQCNKCL EGNFYLRQNN SFLCLPCNCD 850
KTGTINGSLL CNKSTGQCPC KLGVTGLRCN QCEPHRYNLT IDNFQHCQMC 900
ECDSLGTLPG TICDPISGQC LCVPNRQGRR CNQCQPGFYI SPGNATGCLP 950
CSCHTTGAVN HICNSLTGQC VCQDASIAGQ RCDQCKDHYF GFDPQTGRCQ 1000
PCNCHLSGAL NETCHLVTGQ CFCKQFVTGS KCDACVPSAS HLDVNNLLGC 1050
SKTPFQQPPP RGQVQSSSAI NLSWSPPDSP NAHWLTYSLL RDGFEIYTTE 1100
DQYPYSIQYF LDTDLLPYTK YSYYIETTNV HGSTRSVAVT YKTKPGVPEG 1150
NLTLSYIIPI GSDSVTLTWT TLSNQSGPIE KYILSCAPLA GGQPCVSYEG 1200
HETSATIWNL VPFAKYDFSV QACTSGGCLH SLPITVTTAQ APPQRLSPPK 1250
MQKISSTELH VEWSPPAELN GIIIRYELYM RRLRSTKETT SEESRVFQSS 1300
GWLSPHSFVE SANENALKPP QTMTTITGLE PYTKYEFRVL AVNMAGSVSS 1350
AWVSERTGES APVFMIPPSV FPLSSYSLNI SWEKPADNVT RGKVVGYDIN 1400
MLSEQSPQQS IPMAFSQLLH TAKSQELSYT VEGLKPYRIY EFTITLCNSV 1450
GCVTSASGAG QTLAAAPAQL RPPLVKGINS TTIHLRWFPP EELNGPSPIY 1500
QLERRESSLP ALMTTMMKGI RFIGNGYCKF PSSTHPVNTD FTGIKASFRT 1550
KVPEGLIVFA ASPGNQEEYF ALQLKKGRLY FLFDPQGSPV EVTTTNDHGK 1600
QYSDGKWHEI IAIRHQAFGQ ITLDGIYTGS SAILNGSTVI GDNTGVFLGG 1650
LPRSYTILRK DPEIIQKGFV GCLKDVHFMK NYNPSAIWEP LDWQSSEEQI 1700
NVYNSWEGCP ASLNEGAQFL GAGFLELHPY MFHGGMNFEI SFKFRTDQLN 1750
GLLLFVYNKD GPDFLAMELK SGILTFRLNT SLAFTQVDLL LGLSYCNGKW 1800
NKVIIKKEGS FISASVNGLM KHASESGDQP LVVNSPVYVG GIPQELLNSY 1850
QHLCLEQGFG GCMKDVKFTR GAVVNLASVS SGAVRVNLDG CLSTDSAVNC 1900
RGNDSILVYQ GKEQSVYEGG LQPFTEYLYR VIASHEGGSV YSDWSRGRTT 1950
GAAPQSVPTP SRVRSLNGYS IEVTWDEPVV RGVIEKYILK AYSEDSTRPP 2000
RMPSASAEFV NTSNLTGILT GLLPFKNYAV TLTACTLAGC TESSHALNIS 2050
TPQEAPQEVQ PPVAKSLPSS LLLSWNPPKK ANGIITQYCL YMDGRLIYSG 2100
SEENYIVTDL AVFTPHQFLL SACTHVGCTN SSWVLLYTAQ LPPEHVDSPV 2150
LTVLDSRTIH IQWKQPRKIS GILERYVLYM SNHTHDFTIW SVIYNSTELF 2200
QDHMLQYVLP GNKYLIKLGA CTGGGCTVSE ASEALTDEDI PEGVPAPKAH 2250
SYSPDSFNVS WTEPEYPNGV ITSYGLYLDG ILIHNSSELS YRAYGFAPWS 2300
LHSFRVQACT AKGCALGPLV ENRTLEAPPE GTVNVFVKTQ GSRKAHVRWE 2350
APFRPNGLLT HSVLFTGIFY VDPVGNNYTL LNVTKVMYSG EETNLWVLID 2400
GLVPFTNYTV QVNISNSQGS LITDPITIAM PPGAPDGVLP PRLSSATPTS 2450
LQVVWSTPAR NNAPGSPRYQ LQMRSGDSTH GFLELFSNPS ASLSYEVSDL 2500
QPYTEYMFRL VASNGFGSAH SSWIPFMTAE DKPGPVVPPI LLDVKSRMML 2550
VTWQHPRKSN GVITHYNIYL HGRLYLRTPG NVTNCTVMHL HPYTAYKFQV 2600
EACTSKGCSL SPESQTVWTL PGAPEGIPSP ELFSDTPTSV IISWQPPTHP 2650
NGLVENFTIE RRVKGKEEVT TLVTLPRSHS MRFIDKTSAL SPWTKYEYRV 2700
LMSTLHGGTN SSAWVEVTTR PSRPAGVQPP VVTVLEPDAV QVTWKPPLIQ 2750
NGDILSYEIH MPDPHITLTN VTSAVLSQKV THLIPFTNYS VTIVACSGGN 2800
GYLGGCTESL PTYVTTHPTV PQNVGPLSVI PLSESYVVIS WQPPSKPNGP 2850
NLRYELLRRK IQQPLASNPP EDLNRWHNIY SGTQWLYEDK GLSRFTTYEY 2900
MLFVHNSVGF TPSREVTVTT LAGLPERGAN LTASVLNHTA IDVRWAKPTV 2950
QDLQGEVEYY TLFWSSATSN DSLKILPDVN SHVIGHLKPN TEYWIFISVF 3000
NGVHSINSAG LHATTCDGEP QGMLPPEVVI INSTAVRVIW TSPSNPNGVV 3050
TEYSIYVNNK LYKTGMNVPG SFILRDLSPF TIYDIQVEVC TIYACVKSNG 3100
TQITTVEDTP SDIPTPTIRG ITSRSLQIDW VSPRKPNGII LGYDLLWKTW 3150
YPCAKTQKLV QDQSDELCKA VRCQKPESIC GHICYSSEAK VCCNGVLYNP 3200
KPGHRCCEEK YIPFVLNSTG VCCGGRIQEA QPNHQCCSGY YARILPGEVC 3250
CPDEQHNRVS VGIGDSCCGR MPYSTSGNQI CCAGRLHDGH GQKCCGRQIV 3300
SNDLECCGGE EGVVYNRLPG MFCCGQDYVN MSDTICCSAS SGESKAHIKK 3350
NDPVPVKCCE TELIPKSQKC CNGVGYNPLK YVCSDKISTG MMMKETKECR 3400
ILCPASMEAT EHCGRCDFNF TSHICTVIRG SHNSTGKASI EEMCSSAEET 3450
IHTGSVNTYS YTDVNLKPYM TYEYRISAWN SYGRGLSKAV RARTKEDVPQ 3500
GVSPPTWTKI DNLEDTIVLN WRKPIQSNGP IIYYILLRNG IERFRGTSLS 3550
FSDKEGIQPF QEYSYQLKAC TVAGCATSSK VVAATTQGVP ESILPPSITA 3600
LSAVALHLSW SVPEKSNGVI KEYQIRQVGK GLIHTDTTDR RQHTVTGLQP 3650
YTNYSFTLTA CTSAGCTSSE PFLGQTLQAA PEGVWVTPRH IIINSTTVEL 3700
YWSLPEKPNG LVSQYQLSRN GNLLFLGGSE EQNFTDKNLE PNSRYTYKLE 3750
VKTGGGSSAS DDYIVQTPMS TPEEIYPPYN ITVIGPYSIF VAWIPPGILI 3800
PEIPVEYNVL LNDGSVTPLA FSVGHHQSTL LENLTPFTQY EIRIQACQNG 3850
SCGVSSRMFV KTPEAAPMDL NSPVLKALGS ACIEIKWMPP EKPNGIIINY 3900
FIYRRPAGIE EESVLFVWSE GALEFMDEGD TLRPFTLYEY RVRACNSKGS 3950
VESLWSLTQT LEAPPQDFPA PWAQATSAHS VLLNWTKPES PNGIISHYRV 4000
VYQERPDDPT FNSPTVHAFT VKGTSHQAHL YGLEPFTTYR IGVVAANHAG 4050
EILSPWTLIQ TLESSPSGLR NFIVEQKENG RALLLQWSEP MRTNGVIKTY 4100
NIFSDGFLEY SGLNRQFLFR RLDPFTLYTL TLEACTRAGC AHSAPQPLWT 4150
DEAPPDSQLA PTVHSVKSTS VELSWSEPVN PNGKIIRYEV IRRCFEGKAW 4200
GNQTIQADEK IVFTEYNTER NTFMYNDTGL QPWTQCEYKI YTWNSAGHTC 4250
SSWNVVRTLQ APPEGLSPPV ISYVSMNPQK LLISWIPPEQ SNGIIQSYRL 4300
QRNEMLYPFS FDPVTFNYTD EELLPFSTYS YALQACTSGG CSTSKPTSIT 4350
TLEAAPSEVS PPDLWAVSAT QMNVCWSPPT VQNGKITKYL VRYDNKESLA 4400
GQGLCLLVSH LQPYSQYNFS LVACTNGGCT ASVSKSAWTM EALPENMDSP 4450
TLQVTGSESI EITWKPPRNP NGQIRSYELR RDGTIVYTGL ETRYRDFTLT 4500
PGVEYSYTVT ASNSQGGILS PLVKDRTSPS APSGMEPPKL QARGPQEILV 4550
NWDPPVRTNG DIINYTLFIR ELFERETKII HINTTHNSFG MQSYIVNQLK 4600
PFHRYEIRIQ ACTTLGCASS DWTFIQTPEI APLMQPPPHL EVQMAPGGFQ 4650
PTVSLLWTGP LQPNGKVLYY ELYRRQIATQ PRKSNPVLIY NGSSTSFIDS 4700
ELLPFTEYEY QVWAVNSAGK APSSWTWCRT GPAPPEGLRA PTFHVISSTQ 4750
AVVNISAPGK PNGIVSLYRL FSSSAHGAET VLSEGMATQQ TLHGLQAFTN 4800
YSIGVEACTC FNCCSKGPTA ELRTHPAPPS GLSSPQIGTL ASRTASFRWS 4850
PPMFPNGVIH SYELQFHVAC PPDSALPCTP SQIETKYTGL GQKASLGGLQ 4900
PYTTYKLRVV AHNEVGSTAS EWISFTTQKE LPQYRAPFSV DSNLSVVCVN 4950
WSDTFLLNGQ LKEYVLTDGG RRVYSGLDTT LYIPRTADKT FFFQVICTTD 5000
EGSVKTPLIQ YDTSTGLGLV LTTPGKKKGS RSKSTEFYSE LWFIVLMAML 5050
GLILLAIFLS LILQRKIHKE PYIRERPPLV PLQKRMSPLN VYPPGENHMG 5100
LADTKIPRSG TPVSIRSNRS ACVLRIPSQN QTSLTYSQGS LHRSVSQLMD 5150
IQDKKVLMDN SLWEAIMGHN SGLYVDEEDL MNAIKDFSSV TKERTTFTDT 5200
HL 5202
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 1251A → T.4 Publications
Corresponds to variant rs10779261 [ dbSNP | Ensembl ].
VAR_025760
Natural varianti163 – 1631C → Y in USH2A. 2 Publications
VAR_025761
Natural varianti218 – 2181V → E in USH2A. 2 Publications
VAR_025762
Natural varianti230 – 2301V → M in USH2A; may be a common polymorphism. 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. 4 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 varianti365 – 3651L → F.1 Publication
VAR_054566
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 varianti453 – 4531T → I Found in a renal cell carcinoma sample; somatic mutation. 1 Publication
VAR_064761
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 varianti479 – 4791F → S.2 Publications
VAR_054569
Natural varianti516 – 5161G → V in USH2A; unknown pathological significance. 1 Publication
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. 1 Publication
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 varianti595 – 5951F → S.1 Publication
Corresponds to variant rs200496467 [ dbSNP | Ensembl ].
VAR_054574
Natural varianti610 – 6101H → P in USH2A. 1 Publication
VAR_025771
Natural varianti644 – 6441D → V.6 Publications
Corresponds to variant rs1805048 [ dbSNP | Ensembl ].
VAR_025772
Natural varianti703 – 7031D → E.1 Publication
VAR_025773
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 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 varianti761 – 7611P → R in USH2A. 1 Publication
VAR_025776
Natural varianti841 – 8411S → Y.1 Publication
Corresponds to variant rs111033282 [ dbSNP | Ensembl ].
VAR_025777
Natural varianti911 – 9111T → N in RP39; unknown pathological significance. 1 Publication
VAR_054576
Natural varianti1047 – 10471L → V.1 Publication
VAR_054577
Natural varianti1059 – 10591P → L in USH2A; unknown pathological significance. 1 Publication
VAR_054578
Natural varianti1212 – 12121P → L in USH2A. 1 Publication
VAR_054579
Natural varianti1349 – 13491S → P.1 Publication
VAR_054580
Natural varianti1470 – 14701L → R in RP39; unknown pathological significance. 1 Publication
VAR_054581
Natural varianti1486 – 14861R → K.7 Publications
Corresponds to variant rs1805049 [ dbSNP | Ensembl ].
VAR_025778
Natural varianti1515 – 15151T → M in USH2A. 1 Publication
VAR_025779
Natural varianti1572 – 15721L → F.3 Publications
Corresponds to variant rs111033333 [ dbSNP | Ensembl ].
VAR_054582
Natural varianti1665 – 16651I → T.3 Publications
Corresponds to variant rs56222536 [ dbSNP | Ensembl ].
VAR_038362
Natural varianti1757 – 17571Y → C.1 Publication
VAR_054583
Natural varianti1833 – 18331V → E in USH2A. 1 Publication
VAR_054584
Natural varianti1859 – 18591F → C in RP39. 1 Publication
VAR_068354
Natural varianti2080 – 20801K → N.1 Publication
Corresponds to variant rs114402911 [ dbSNP | Ensembl ].
VAR_054585
Natural varianti2086 – 20861T → N.1 Publication
Corresponds to variant rs149202379 [ dbSNP | Ensembl ].
VAR_054586
Natural varianti2106 – 21061I → T.3 Publications
Corresponds to variant rs6657250 [ dbSNP | Ensembl ].
VAR_038363
Natural varianti2169 – 21691I → T.3 Publications
Corresponds to variant rs10864219 [ dbSNP | Ensembl ].
VAR_038364
Natural varianti2238 – 22381E → A.2 Publications
Corresponds to variant rs41277212 [ dbSNP | Ensembl ].
VAR_054587
Natural varianti2249 – 22491A → D in USH2A. 1 Publication
VAR_054588
Natural varianti2265 – 22662EY → D in USH2A. 1 Publication
VAR_054589
Natural varianti2292 – 22921R → H.1 Publication
Corresponds to variant rs41277210 [ dbSNP | Ensembl ].
VAR_054590
Natural varianti2354 – 23541R → H in USH2A. 1 Publication
VAR_054591
Natural varianti2460 – 24601R → H in RP39. 1 Publication