• Gene id: 7399

Gene Summary

• Gene Symbol: USH2A   Gene   UCSC   Ensembl
• Aliases: RP39, US2, USH2, dJ1111A8.1
• Gene name: usherin
• Alternate names: usherin, Usher syndrome 2A (autosomal recessive, mild), usher syndrome type IIa protein, usher syndrome type-2A protein,
• Gene location: 1q41 (48892786: 48895870)     Exons: 5     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutation
• OMIM: 608400

Protein Summary

• Protein general information: O75445  
  • Name: Usherin (Usher syndrome type IIa protein) (Usher syndrome type 2A protein)
  • Length: 5202  
  • Mass: 575600
  • Tissue specificity: 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 a
• Sequence:

  MNCPVLSLGSGFLFQVIEMLIFAYFASISLTESRGLFPRLENVGAFKKVSIVPTQAVCGLPDRSTFCHSSAAAES
  IQFCTQRFCIQDCPYRSSHPTYTALFSAGLSSCITPDKNDLHPNAHSNSASFIFGNHKSCFSSPPSPKLMASFTL
  AVWLKPEQQGVMCVIEKTVDGQIVFKLTISEKETMFYYRTVNGLQPPIKVMTLGRILVKKWIHLSVQVHQTKISF
  FINGVEKDHTPFNARTLSGSITDFASGTVQIGQSLNGLEQFVGRMQDFRLYQVALTNREILEVFSGDLLRLHAQS
  HCRCPGSHPRVHPLAQRYCIPNDAGDTADNRVSRLNPEAHPLSFVNDNDVGTSWVSNVFTNITQLNQGVTISVDL
  ENGQYQVFYIIIQFFSPQPTEIRIQRKKENSLDWEDWQYFARNCGAFGMKNNGDLEKPDSVNCLQLSNFTPYSRG
  NVTFSILTPGPNYRPGYNNFYNTPSLQEFVKATQIRFHFHGQYYTTETAVNLRHRYYAVDEITISGRCQCHGHAD
  NCDTTSQPYRCLCSQESFTEGLHCDRCLPLYNDKPFRQGDQVYAFNCKPCQCNSHSKSCHYNISVDPFPFEHFRG
  GGGVCDDCEHNTTGRNCELCKDYFFRQVGADPSAIDVCKPCDCDTVGTRNGSILCDQIGGQCNCKRHVSGRQCNQ
  CQNGFYNLQELDPDGCSPCNCNTSGTVDGDITCHQNSGQCKCKANVIGLRCDHCNFGFKFLRSFNDVGCEPCQCN
  LHGSVNKFCNPHSGQCECKKEAKGLQCDTCRENFYGLDVTNCKACDCDTAGSLPGTVCNAKTGQCICKPNVEGRQ
  CNKCLEGNFYLRQNNSFLCLPCNCDKTGTINGSLLCNKSTGQCPCKLGVTGLRCNQCEPHRYNLTIDNFQHCQMC
  ECDSLGTLPGTICDPISGQCLCVPNRQGRRCNQCQPGFYISPGNATGCLPCSCHTTGAVNHICNSLTGQCVCQDA
  SIAGQRCDQCKDHYFGFDPQTGRCQPCNCHLSGALNETCHLVTGQCFCKQFVTGSKCDACVPSASHLDVNNLLGC
  SKTPFQQPPPRGQVQSSSAINLSWSPPDSPNAHWLTYSLLRDGFEIYTTEDQYPYSIQYFLDTDLLPYTKYSYYI
  ETTNVHGSTRSVAVTYKTKPGVPEGNLTLSYIIPIGSDSVTLTWTTLSNQSGPIEKYILSCAPLAGGQPCVSYEG
  HETSATIWNLVPFAKYDFSVQACTSGGCLHSLPITVTTAQAPPQRLSPPKMQKISSTELHVEWSPPAELNGIIIR
  YELYMRRLRSTKETTSEESRVFQSSGWLSPHSFVESANENALKPPQTMTTITGLEPYTKYEFRVLAVNMAGSVSS
  AWVSERTGESAPVFMIPPSVFPLSSYSLNISWEKPADNVTRGKVVGYDINMLSEQSPQQSIPMAFSQLLHTAKSQ
  ELSYTVEGLKPYRIYEFTITLCNSVGCVTSASGAGQTLAAAPAQLRPPLVKGINSTTIHLRWFPPEELNGPSPIY
  QLERRESSLPALMTTMMKGIRFIGNGYCKFPSSTHPVNTDFTGIKASFRTKVPEGLIVFAASPGNQEEYFALQLK
  KGRLYFLFDPQGSPVEVTTTNDHGKQYSDGKWHEIIAIRHQAFGQITLDGIYTGSSAILNGSTVIGDNTGVFLGG
  LPRSYTILRKDPEIIQKGFVGCLKDVHFMKNYNPSAIWEPLDWQSSEEQINVYNSWEGCPASLNEGAQFLGAGFL
  ELHPYMFHGGMNFEISFKFRTDQLNGLLLFVYNKDGPDFLAMELKSGILTFRLNTSLAFTQVDLLLGLSYCNGKW
  NKVIIKKEGSFISASVNGLMKHASESGDQPLVVNSPVYVGGIPQELLNSYQHLCLEQGFGGCMKDVKFTRGAVVN
  LASVSSGAVRVNLDGCLSTDSAVNCRGNDSILVYQGKEQSVYEGGLQPFTEYLYRVIASHEGGSVYSDWSRGRTT
  GAAPQSVPTPSRVRSLNGYSIEVTWDEPVVRGVIEKYILKAYSEDSTRPPRMPSASAEFVNTSNLTGILTGLLPF
  KNYAVTLTACTLAGCTESSHALNISTPQEAPQEVQPPVAKSLPSSLLLSWNPPKKANGIITQYCLYMDGRLIYSG
  SEENYIVTDLAVFTPHQFLLSACTHVGCTNSSWVLLYTAQLPPEHVDSPVLTVLDSRTIHIQWKQPRKISGILER
  YVLYMSNHTHDFTIWSVIYNSTELFQDHMLQYVLPGNKYLIKLGACTGGGCTVSEASEALTDEDIPEGVPAPKAH
  SYSPDSFNVSWTEPEYPNGVITSYGLYLDGILIHNSSELSYRAYGFAPWSLHSFRVQACTAKGCALGPLVENRTL
  EAPPEGTVNVFVKTQGSRKAHVRWEAPFRPNGLLTHSVLFTGIFYVDPVGNNYTLLNVTKVMYSGEETNLWVLID
  GLVPFTNYTVQVNISNSQGSLITDPITIAMPPGAPDGVLPPRLSSATPTSLQVVWSTPARNNAPGSPRYQLQMRS
  GDSTHGFLELFSNPSASLSYEVSDLQPYTEYMFRLVASNGFGSAHSSWIPFMTAEDKPGPVVPPILLDVKSRMML
  VTWQHPRKSNGVITHYNIYLHGRLYLRTPGNVTNCTVMHLHPYTAYKFQVEACTSKGCSLSPESQTVWTLPGAPE
  GIPSPELFSDTPTSVIISWQPPTHPNGLVENFTIERRVKGKEEVTTLVTLPRSHSMRFIDKTSALSPWTKYEYRV
  LMSTLHGGTNSSAWVEVTTRPSRPAGVQPPVVTVLEPDAVQVTWKPPLIQNGDILSYEIHMPDPHITLTNVTSAV
  LSQKVTHLIPFTNYSVTIVACSGGNGYLGGCTESLPTYVTTHPTVPQNVGPLSVIPLSESYVVISWQPPSKPNGP
  NLRYELLRRKIQQPLASNPPEDLNRWHNIYSGTQWLYEDKGLSRFTTYEYMLFVHNSVGFTPSREVTVTTLAGLP
  ERGANLTASVLNHTAIDVRWAKPTVQDLQGEVEYYTLFWSSATSNDSLKILPDVNSHVIGHLKPNTEYWIFISVF
  NGVHSINSAGLHATTCDGEPQGMLPPEVVIINSTAVRVIWTSPSNPNGVVTEYSIYVNNKLYKTGMNVPGSFILR
  DLSPFTIYDIQVEVCTIYACVKSNGTQITTVEDTPSDIPTPTIRGITSRSLQIDWVSPRKPNGIILGYDLLWKTW
  YPCAKTQKLVQDQSDELCKAVRCQKPESICGHICYSSEAKVCCNGVLYNPKPGHRCCEEKYIPFVLNSTGVCCGG
  RIQEAQPNHQCCSGYYARILPGEVCCPDEQHNRVSVGIGDSCCGRMPYSTSGNQICCAGRLHDGHGQKCCGRQIV
  SNDLECCGGEEGVVYNRLPGMFCCGQDYVNMSDTICCSASSGESKAHIKKNDPVPVKCCETELIPKSQKCCNGVG
  YNPLKYVCSDKISTGMMMKETKECRILCPASMEATEHCGRCDFNFTSHICTVIRGSHNSTGKASIEEMCSSAEET
  IHTGSVNTYSYTDVNLKPYMTYEYRISAWNSYGRGLSKAVRARTKEDVPQGVSPPTWTKIDNLEDTIVLNWRKPI
  QSNGPIIYYILLRNGIERFRGTSLSFSDKEGIQPFQEYSYQLKACTVAGCATSSKVVAATTQGVPESILPPSITA
  LSAVALHLSWSVPEKSNGVIKEYQIRQVGKGLIHTDTTDRRQHTVTGLQPYTNYSFTLTACTSAGCTSSEPFLGQ
  TLQAAPEGVWVTPRHIIINSTTVELYWSLPEKPNGLVSQYQLSRNGNLLFLGGSEEQNFTDKNLEPNSRYTYKLE
  VKTGGGSSASDDYIVQTPMSTPEEIYPPYNITVIGPYSIFVAWIPPGILIPEIPVEYNVLLNDGSVTPLAFSVGH
  HQSTLLENLTPFTQYEIRIQACQNGSCGVSSRMFVKTPEAAPMDLNSPVLKALGSACIEIKWMPPEKPNGIIINY
  FIYRRPAGIEEESVLFVWSEGALEFMDEGDTLRPFTLYEYRVRACNSKGSVESLWSLTQTLEAPPQDFPAPWAQA
  TSAHSVLLNWTKPESPNGIISHYRVVYQERPDDPTFNSPTVHAFTVKGTSHQAHLYGLEPFTTYRIGVVAANHAG
  EILSPWTLIQTLESSPSGLRNFIVEQKENGRALLLQWSEPMRTNGVIKTYNIFSDGFLEYSGLNRQFLFRRLDPF
  TLYTLTLEACTRAGCAHSAPQPLWTDEAPPDSQLAPTVHSVKSTSVELSWSEPVNPNGKIIRYEVIRRCFEGKAW
  GNQTIQADEKIVFTEYNTERNTFMYNDTGLQPWTQCEYKIYTWNSAGHTCSSWNVVRTLQAPPEGLSPPVISYVS
  MNPQKLLISWIPPEQSNGIIQSYRLQRNEMLYPFSFDPVTFNYTDEELLPFSTYSYALQACTSGGCSTSKPTSIT
  TLEAAPSEVSPPDLWAVSATQMNVCWSPPTVQNGKITKYLVRYDNKESLAGQGLCLLVSHLQPYSQYNFSLVACT
  NGGCTASVSKSAWTMEALPENMDSPTLQVTGSESIEITWKPPRNPNGQIRSYELRRDGTIVYTGLETRYRDFTLT
  PGVEYSYTVTASNSQGGILSPLVKDRTSPSAPSGMEPPKLQARGPQEILVNWDPPVRTNGDIINYTLFIRELFER
  ETKIIHINTTHNSFGMQSYIVNQLKPFHRYEIRIQACTTLGCASSDWTFIQTPEIAPLMQPPPHLEVQMAPGGFQ
  PTVSLLWTGPLQPNGKVLYYELYRRQIATQPRKSNPVLIYNGSSTSFIDSELLPFTEYEYQVWAVNSAGKAPSSW
  TWCRTGPAPPEGLRAPTFHVISSTQAVVNISAPGKPNGIVSLYRLFSSSAHGAETVLSEGMATQQTLHGLQAFTN
  YSIGVEACTCFNCCSKGPTAELRTHPAPPSGLSSPQIGTLASRTASFRWSPPMFPNGVIHSYELQFHVACPPDSA
  LPCTPSQIETKYTGLGQKASLGGLQPYTTYKLRVVAHNEVGSTASEWISFTTQKELPQYRAPFSVDSNLSVVCVN
  WSDTFLLNGQLKEYVLTDGGRRVYSGLDTTLYIPRTADKTFFFQVICTTDEGSVKTPLIQYDTSTGLGLVLTTPG
  KKKGSRSKSTEFYSELWFIVLMAMLGLILLAIFLSLILQRKIHKEPYIRERPPLVPLQKRMSPLNVYPPGENHMG
  LADTKIPRSGTPVSIRSNRSACVLRIPSQNQTSLTYSQGSLHRSVSQLMDIQDKKVLMDNSLWEAIMGHNSGLYV
  DEEDLMNAIKDFSSVTKERTTFTDTHL

• Structural information:
  • Protein Domains: (271..51-)
    (/note="Laminin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00466-)
    (518..57-)
    1 (/note="Laminin-EGF-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00460-)
    (575..64-)
    2 (/note="Laminin-EGF-like)
    (/evidence="ECO-)
  • Interpro: IPR013320  IPR003961  IPR036116  IPR013783  IPR006558   IPR002049  IPR001791  IPR008211  IPR038684  IPR026915  
  • Prosite: PS00022 PS01248 PS50027 PS50853 PS50025 PS51117
  • CDD: cd00063
  • STRING: ENSP00000305941
• Other Databases: GeneCards:  USH2A  Malacards:  USH2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005604	basement membrane	IDA	cellular component
GO:0005518	collagen binding	IDA	molecular function
GO:0045494	photoreceptor cell maintenance	IMP	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0048496	maintenance of animal organ identity	IMP	biological process
GO:0050953	sensory perception of light stimulus	IMP	biological process
GO:0009887	animal organ morphogenesis	IBA	biological process
GO:0009888	tissue development	IBA	biological process
GO:1990696	USH2 complex	ISS	cellular component
GO:0043195	terminal bouton	ISS	colocalizes with
GO:1990075	periciliary membrane compartment	ISS	cellular component
GO:0002141	stereocilia ankle link	ISS	cellular component
GO:0045184	establishment of protein localization	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1990075	periciliary membrane compartment	ISS	cellular component
GO:0002141	stereocilia ankle link	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043025	neuronal cell body	ISS	colocalizes with
GO:0032391	photoreceptor connecting cilium	ISS	colocalizes with
GO:0001917	photoreceptor inner segment	ISS	colocalizes with
GO:0002142	stereocilia ankle link complex	ISS	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1990696	USH2 complex	IEA	cellular component
GO:0060113	inner ear receptor cell differentiation	IEA	biological process
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0035315	hair cell differentiation	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:1990075	periciliary membrane compartment	IEA	cellular component
GO:0060171	stereocilium membrane	IEA	cellular component
GO:0045184	establishment of protein localization	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0032421	stereocilium bundle	IEA	cellular component
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0017022	myosin binding	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005518	collagen binding	IEA	molecular function
GO:0002142	stereocilia ankle link complex	IEA	cellular component
GO:0002141	stereocilia ankle link	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0017022	myosin binding	ISS	molecular function
GO:0035315	hair cell differentiation	ISS	biological process
GO:0060113	inner ear receptor cell differentiation	ISS	biological process
GO:0002142	stereocilia ankle link complex	ISS	cellular component
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0032421	stereocilium bundle	ISS	cellular component
GO:0060171	stereocilium membrane	ISS	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0060171	stereocilium membrane	IEA	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Usher syndrome	KEGG:H00779
Retinitis pigmentosa	KEGG:H00527
Usher syndrome	KEGG:H00779
Usher syndrome	PMID:18452394
Nonsyndromic deafness	PMID:23767834
Usher syndrome	PMID:12112664
Retinitis pigmentosa	PMID:20507924
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray