KEGG   Homo sapiens (human): 5961Help
Entry
5961              CDS       T01001                                 

Gene name
PRPH2, AOFMD, AVMD, CACD2, DS, PRPH, RDS, RP7, TSPAN22, rd2
Definition
peripherin 2 (retinal degeneration, slow)
Orthology
K17343  
peripherin-2
Organism
hsa  Homo sapiens (human)
Disease
H00527  
Retinitis pigmentosa (RP)
H00814  
Vitelliform macular dystrophy
H00821  
Macular degeneration
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
6p21.1
AA seq 346 aa AA seqDB search
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFV
PNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCF
LLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWI
SNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESE
SESQGWLLERSVPETWKAFLESVKKLGKGNQVEAEGADAGQAPEAG
NT seq 1041 nt NT seq  +upstreamnt  +downstreamnt
atggcgctactgaaagtcaagtttgaccagaagaagcgggtcaagttggcccaagggctc
tggctcatgaactggttctccgtgttggctggcatcatcatcttcagcctaggactgttc
ctgaagattgaactccgaaagaggagcgatgtgatgaataattctgagagccattttgtg
cccaactcattgatagggatgggggtgctatcctgtgtcttcaactcgctggctgggaag
atctgctacgacgccctggacccagccaagtatgccagatggaagccctggctgaagccg
tacctggctatctgtgttctcttcaacatcatcctcttccttgtggctctctgctgcttt
ctgcttcggggctcgctggagaacaccctgggccaagggctcaagaacggcatgaagtac
taccgggacacagacacccctggcaggtgtttcatgaagaagaccatcgacatgctgcag
atcgagttcaaatgctgcggcaacaacggttttcgggactggtttgagattcagtggatc
agcaatcgctacctggacttttcctccaaagaagtcaaagatcgaatcaagagcaacgtg
gatgggcggtacctggtggacggcgtccctttcagctgctgcaatcctagctcgccacgg
ccctgcatccagtatcagatcaccaacaactcagcacactacagttacgaccaccagacg
gaggagctcaacctgtgggtgcgtggctgcagggctgccctgctgagctactacagcagc
ctcatgaactccatgggtgtcgtcacgctcctcatttggctcttcgaggtgaccattaca
attgggctgcgctacctacagacgtcgctggatggtgtgtccaaccccgaggaatctgag
agcgagagccagggctggctgctggagaggagcgtgccggagacctggaaggcctttctg
gagagtgtgaagaagctgggcaagggcaaccaggtggaagccgagggcgcagacgcaggc
caggccccagaggctggctga

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