KEGG   Homo sapiens (human): 5961
Entry
5961              CDS       T01001                                 
Symbol
PRPH2, AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2
Name
(RefSeq) peripherin 2
  KO
K17343  peripherin-2
Organism
hsa  Homo sapiens (human)
Network
nt06541  Cytoskeleton in neurons
  Element
N01853  Neurofilament structure
Disease
H00527  Retinitis pigmentosa
H00814  Vitelliform macular dystrophy
H00825  Familial flecked retina syndrome
H00837  Leber congenital amaurosis
H01768  Central areolar choroidal dystrophy
H01890  Pattern dystrophies of the retinal pigment epithelium
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    5961 (PRPH2)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   5961 (PRPH2)
SSDB
Motif
Pfam: Tetraspanin LtrA DUF7357
Other DBs
NCBI-GeneID: 5961
NCBI-ProteinID: NP_000313
OMIM: 179605
HGNC: 9942
Ensembl: ENSG00000112619
UniProt: P23942
Structure
LinkDB
Position
6:complement(42696598..42722597)
AA seq 346 aa
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFV
PNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCF
LLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWI
SNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESE
SESQGWLLERSVPETWKAFLESVKKLGKGNQVEAEGADAGQAPEAG
NT seq 1041 nt   +upstreamnt  +downstreamnt
atggcgctactgaaagtcaagtttgaccagaagaagcgggtcaagttggcccaagggctc
tggctcatgaactggttctccgtgttggctggcatcatcatcttcagcctaggactgttc
ctgaagattgaactccgaaagaggagcgatgtgatgaataattctgagagccattttgtg
cccaactcattgatagggatgggggtgctatcctgtgtcttcaactcgctggctgggaag
atctgctacgacgccctggacccagccaagtatgccagatggaagccctggctgaagccg
tacctggctatctgtgttctcttcaacatcatcctcttccttgtggctctctgctgcttt
ctgcttcggggctcgctggagaacaccctgggccaagggctcaagaacggcatgaagtac
taccgggacacagacacccctggcaggtgtttcatgaagaagaccatcgacatgctgcag
atcgagttcaaatgctgcggcaacaacggttttcgggactggtttgagattcagtggatc
agcaatcgctacctggacttttcctccaaagaagtcaaagatcgaatcaagagcaacgtg
gatgggcggtacctggtggacggcgtccctttcagctgctgcaatcctagctcgccacgg
ccctgcatccagtatcagatcaccaacaactcagcacactacagttacgaccaccagacg
gaggagctcaacctgtgggtgcgtggctgcagggctgccctgctgagctactacagcagc
ctcatgaactccatgggtgtcgtcacgctcctcatttggctcttcgaggtgaccattaca
attgggctgcgctacctacagacgtcgctggatggtgtgtccaaccccgaggaatctgag
agcgagagccagggctggctgctggagaggagcgtgccggagacctggaaggcctttctg
gagagtgtgaagaagctgggcaagggcaaccaggtggaagccgagggcgcagacgcaggc
caggccccagaggctggctga

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