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

Gene name
PRPH2, AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2
Definition
(RefSeq) peripherin 2
  KO
K17343  
peripherin-2
Organism
hsa  Homo sapiens (human)
Disease
H00527  
Retinitis pigmentosa (RP)
H00814  
Vitelliform macular dystrophy
H01768  
Central areolar choroidal dystrophy
H01890  
Pattern dystrophies of the retinal pigment epithelium
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P23942(Tbio)
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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