KEGG   Homo sapiens (human): 7399Help
Entry
7399              CDS       T01001                                 

Gene name
USH2A, RP39, US2, USH2, dJ1111A8.1
Definition
Usher syndrome 2A (autosomal recessive, mild)
Organism
hsa  Homo sapiens (human)
Disease
H00527  
Retinitis pigmentosa (RP)
H00779  
Usher syndrome (US)
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
1q41
AA seq 1546 aa AA seqDB search
MNCPVLSLGSGFLFQVIEMLIFAYFASISLTESRGLFPRLENVGAFKKVSIVPTQAVCGL
PDRSTFCHSSAAAESIQFCTQRFCIQDCPYRSSHPTYTALFSAGLSSCITPDKNDLHPNA
HSNSASFIFGNHKSCFSSPPSPKLMASFTLAVWLKPEQQGVMCVIEKTVDGQIVFKLTIS
EKETMFYYRTVNGLQPPIKVMTLGRILVKKWIHLSVQVHQTKISFFINGVEKDHTPFNAR
TLSGSITDFASGTVQIGQSLNGLEQFVGRMQDFRLYQVALTNREILEVFSGDLLRLHAQS
HCRCPGSHPRVHPLAQRYCIPNDAGDTADNRVSRLNPEAHPLSFVNDNDVGTSWVSNVFT
NITQLNQGVTISVDLENGQYQVFYIIIQFFSPQPTEIRIQRKKENSLDWEDWQYFARNCG
AFGMKNNGDLEKPDSVNCLQLSNFTPYSRGNVTFSILTPGPNYRPGYNNFYNTPSLQEFV
KATQIRFHFHGQYYTTETAVNLRHRYYAVDEITISGRCQCHGHADNCDTTSQPYRCLCSQ
ESFTEGLHCDRCLPLYNDKPFRQGDQVYAFNCKPCQCNSHSKSCHYNISVDPFPFEHFRG
GGGVCDDCEHNTTGRNCELCKDYFFRQVGADPSAIDVCKPCDCDTVGTRNGSILCDQIGG
QCNCKRHVSGRQCNQCQNGFYNLQELDPDGCSPCNCNTSGTVDGDITCHQNSGQCKCKAN
VIGLRCDHCNFGFKFLRSFNDVGCEPCQCNLHGSVNKFCNPHSGQCECKKEAKGLQCDTC
RENFYGLDVTNCKACDCDTAGSLPGTVCNAKTGQCICKPNVEGRQCNKCLEGNFYLRQNN
SFLCLPCNCDKTGTINGSLLCNKSTGQCPCKLGVTGLRCNQCEPHRYNLTIDNFQHCQMC
ECDSLGTLPGTICDPISGQCLCVPNRQGRRCNQCQPGFYISPGNATGCLPCSCHTTGAVN
HICNSLTGQCVCQDASIAGQRCDQCKDHYFGFDPQTGRCQPCNCHLSGALNETCHLVTGQ
CFCKQFVTGSKCDACVPSASHLDVNNLLGCSKTPFQQPPPRGQVQSSSAINLSWSPPDSP
NAHWLTYSLLRDGFEIYTTEDQYPYSIQYFLDTDLLPYTKYSYYIETTNVHGSTRSVAVT
YKTKPGVPEGNLTLSYIIPIGSDSVTLTWTTLSNQSGPIEKYILSCAPLAGGQPCVSYEG
HETSATIWNLVPFAKYDFSVQACTSGGCLHSLPITVTTAQAPPQRLSPPKMQKISSTELH
VEWSPPAELNGIIIRYELYMRRLRSTKETTSEESRVFQSSGWLSPHSFVESANENALKPP
QTMTTITGLEPYTKYEFRVLAVNMAGSVSSAWVSERTGESAPVFMIPPSVFPLSSYSLNI
SWEKPADNVTRGKVVGYDINMLSEQSPQQSIPMAFSQLLHTAKSQELSYTVEGLKPYRIY
EFTITLCNSVGCVTSASGAGQTLAAAPAQLRPPLVKGINSTTIHLKWFPPEELNGPSPIY
QLERRESSLPALMTTMMKGIRFIGNGYCKFPSSTHPVNTDFTGKCV
NT seq 4641 nt NT seq  +upstreamnt  +downstreamnt
atgaattgcccagttctttcattgggctctggcttcttgtttcaggtcattgaaatgttg
atctttgcctattttgcttcaatatccttgactgagtcacgaggtcttttcccaaggctg
gagaacgtgggagctttcaagaaagtttccatcgtgccaacccaagcagtatgtggactc
ccagaccgaagcactttttgtcacagctctgctgctgctgaaagtattcagttctgtacc
cagcggttttgtattcaggattgcccatacagatcttcacaccctacctacactgccctt
ttctcagcaggcctcagtagctgcatcacaccagacaagaatgatctgcatcctaacgcc
catagcaattctgcaagttttatttttggaaatcacaagagctgcttttcttctcctcct
tctccaaagctgatggcatcatttaccttagctgtatggctgaaacctgagcaacaaggt
gtaatgtgtgttatagaaaagacagtagatgggcagattgtgttcaaacttacaatatct
gagaaagagaccatgttttattatcgcacagtaaatggtttgcaacctccaataaaagta
atgacactggggagaattcttgtgaagaaatggattcatcttagtgtgcaggtgcatcag
acaaaaatcagcttctttatcaatggcgtggagaaggatcatacacctttcaatgcaaga
actctaagtggttcaattacagattttgcatctggtactgtgcaaataggacagagttta
aatggtttagagcagtttgtcggaagaatgcaagattttcgattataccaagtggcactt
acaaacagagagattctggaagtcttctctggagatcttctcagattgcatgcccaatca
cattgccgttgccctggcagccacccgcgggtccaccctttggcacagcggtactgcatt
cctaatgatgcaggagacacagctgataatagagtgtcacggttgaatcctgaagcccat
cctctctcttttgtcaatgataatgatgttggtacttcatgggtttcaaatgtgtttaca
aacattacacagcttaatcaaggagtgactatttcagttgatttggaaaatggacagtat
caggtgttttatattatcattcagttctttagtccacaaccaacggaaataaggattcaa
aggaagaaggaaaatagtttagattgggaggactggcaatattttgccaggaattgtggt
gcttttggaatgaaaaacaatggagatttggaaaaacctgattctgtcaactgtcttcag
ctttccaattttactccatattcccgtggcaatgtcacatttagcatcctgacacctgga
ccaaattatcgtcctggatacaataacttctataataccccatctcttcaagagttcgta
aaagccacgcaaataaggtttcattttcatgggcagtactatacaactgagactgctgtt
aacctcagacacagatattatgcagtggacgaaatcaccattagtgggagatgtcagtgc
catggtcatgccgataactgcgacacaacaagccagccatatagatgcctctgctcccag
gagagcttcactgaaggacttcattgtgatcgctgcttgcctctttataatgacaagcct
ttccgccaaggtgatcaagtttacgctttcaattgtaaaccttgtcaatgcaacagccat
tccaaaagctgccattacaacatctctgtagacccatttccttttgagcacttcagaggg
ggaggaggagtttgtgatgattgtgagcataacactacaggaaggaactgtgagctgtgc
aaggattactttttccgacaagttggtgcagatccttcggccatagatgtttgcaaaccc
tgtgactgtgatacagttggcactagaaatggtagcattctttgtgatcagattggagga
cagtgtaattgtaagagacacgtgtctggcaggcagtgcaatcagtgccagaatggattc
tacaatctacaagagttggatcctgatggctgcagtccctgtaactgcaatacctctggg
acagtggatggagatattacctgtcaccaaaattcaggccagtgcaagtgcaaagcaaac
gttattgggcttaggtgtgatcattgcaattttggatttaaatttctccgaagctttaat
gatgttggatgtgagccctgccagtgtaacctccatggctcagtgaacaaattctgcaat
cctcactctgggcagtgtgagtgcaaaaaagaagccaaaggacttcagtgtgacacctgc
agagaaaacttttatgggttagatgtcaccaattgtaaggcctgtgactgtgacacagct
ggatccctccctgggactgtctgtaatgctaagacagggcagtgcatctgcaagcccaat
gttgaagggagacagtgcaataaatgtttggagggaaacttctacctacggcaaaataat
tctttcctctgtctgccttgcaactgtgataagactgggacaataaatggctctctgctg
tgtaacaaatcaacaggacaatgtccttgcaaattaggggtaacaggtcttcgctgtaat
cagtgtgagcctcacaggtacaatttgaccattgacaattttcaacactgccagatgtgt
gagtgtgattccttggggacattacctgggaccatttgtgacccaatcagtggccagtgc
ctgtgtgtgcctaatcgtcaaggaagaaggtgtaatcagtgtcaaccaggtttttatatt
tctccaggcaatgccactggctgcctgccatgctcatgccatacaactggtgcagttaat
cacatctgtaatagcctgactggtcagtgtgtttgccaagatgcttccattgctgggcaa
cgttgtgaccaatgcaaagaccattactttggatttgatcctcagactggaagatgtcag
ccttgtaattgtcatctctcaggagccttgaatgaaacctgtcacttggtcacaggccag
tgtttctgtaaacaatttgtcactggctcaaagtgtgatgcttgtgttcccagtgcaagc
cacttggatgtcaacaatctattgggttgcagcaaaactccattccagcaacctccgccc
agaggacaagttcaaagttcttctgctatcaatctctcctggagtccacctgattctcca
aatgcccactggcttacttacagtttactcagggatggttttgaaatctacacaacagag
gatcaatacccatacagtattcaatacttcttagacacagacctgttaccatataccaaa
tattcctattacattgagaccaccaatgtgcatggttcaacaaggagtgtagctgtcact
tacaagacaaaaccaggggtcccagagggaaacttgactttaagttatatcattcctatt
ggctcagactctgtgacacttacctggacaacactctcaaatcaatctggtcccatagag
aaatatattttgtcctgtgcccctttggctggtggtcagccatgtgtttcctacgaaggt
catgaaacctcagctaccatctggaatctggttccatttgccaagtacgatttttctgta
caggcgtgtactagcgggggctgtttacacagcttgcccattacagtgaccacagcccag
gcccctccccaaagactaagtccacctaagatgcagaaaatcagttctacagaacttcat
gtagaatggtctccaccagcggaactaaatggaataattataagatatgaactatacatg
agaagactgagatctactaaagaaaccacatctgaggaaagtcgagtttttcagagcagt
ggttggctcagtcctcattcatttgtagaatcggccaatgaaaatgcattaaaacctcct
caaacaatgacaaccatcactggcttggagccatacaccaagtatgagttcagagtctta
gctgtgaatatggctggaagtgtgtcttctgcctgggtctcagaaagaacgggagaatca
gcacctgtattcatgatccctccttcagtctttcccctctcttcgtactctctcaatatc
tcctgggagaagccagcagataatgttacaagaggaaaagttgtggggtatgacatcaat
atgctttctgaacaatcacctcaacagtctattcccatggcgttttcacagctgttgcac
actgctaaatcccaagaactatcttacactgtagaaggactgaaaccttataggatatat
gagtttactattactctctgcaattcagttggttgtgtgaccagtgcttcgggagcagga
caaactttagcagcagcaccagcacaactgaggccacctctggttaaaggaatcaacagc
acaacaatccatcttaagtggtttccacctgaagaactgaatggaccctctcctatatat
cagctggaaaggagagagtcatctctaccagctctgatgaccacgatgatgaaaggaatc
cgtttcataggaaatgggtattgtaaatttcccagctccactcacccagtcaatacagac
ttcactggtaagtgtgtttga

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