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
Pfam: Tetraspannin
Motif
Other DBs
NCBI-GeneID: 5961
NCBI-ProteinID: NP_000313
OMIM: 179605
HGNC: 9942
Ensembl: ENSG00000112619
Vega: OTTHUMG00000014701
Pharos: P23942(Tbio)
UniProt: P23942
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

DBGET integrated database retrieval system