KEGG   Homo sapiens (human): 5311
Entry
5311              CDS       T01001                                 
Symbol
PKD2, APKD2, PC2, PKD4, Pc-2, TRPP2
Name
(RefSeq) polycystin 2, transient receptor potential cation channel
  KO
K04986  polycystin 2
Organism
hsa  Homo sapiens (human)
Disease
H00542  Polycystic kidney disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    5311 (PKD2)
   04040 Ion channels [BR:hsa04040]
    5311 (PKD2)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   5311 (PKD2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Transient receptor potential channel (TRP)
   5311 (PKD2)
SSDB
Motif
Pfam: PKD_channel Polycystin_dom Ion_trans Fer4_24 EF-hand_1 EF-hand_7
Other DBs
NCBI-GeneID: 5311
NCBI-ProteinID: NP_000288
OMIM: 173910
HGNC: 9009
Ensembl: ENSG00000118762
UniProt: Q13563 Q9UEU6
Structure
Position
4:88007635..88077777
AA seq 968 aa
MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPGGLCEQRGLEIEMQRIR
QAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEEEEVEGEEGGMVVEMDVEWRP
GSRRSAASSAVSSVGARSRGLGGYHGAGHPSGRRRRREDQGPPCPSPVGGGDPLHRHLPL
EGQPPRVAWAERLVRGLRGLWGTRLMEESSTNREKYLKSVLRELVTYLLFLIVLCILTYG
MMSSNVYYYTRMMSQLFLDTPVSKTEKTNFKTLSSMEDFWKFTEGSLLDGLYWKMQPSNQ
TEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIPQDLRDEIKECYDVYSVSSEDRAPFGP
RNGTAWIYTSEKDLNGSSHWGIIATYSGAGYYLDLSRTREETAAQVASLKKNVWLDRGTR
ATFIDFSVYNANINLFCVVRLLVEFPATGGVIPSWQFQPLKLIRYVTTFDFFLAACEIIF
CFFIFYYVVEEILEIRIHKLHYFRSFWNCLDVVIVVLSVVAIGINIYRTSNVEVLLQFLE
DQNTFPNFEHLAYWQIQFNNIAAVTVFFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGF
AIMFFIIFLAYAQLAYLVFGTQVDDFSTFQECIFTQFRIILGDINFAEIEEANRVLGPIY
FTTFVFFMFFILLNMFLAIINDTYSEVKSDLAQQKAEMELSDLIRKGYHKALVKLKLKKN
TVDDISESLRQGGGKLNFDELRQDLKGKGHTDAEIEAIFTKYDQDGDQELTEHEHQQMRD
DLEKEREDLDLDHSSLPRPMSSRSFPRSLDDSEEDDDEDSGHSSRRRGSISSGVSYEEFQ
VLVRRVDRMEHSIGSIVSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEI
HREQMERLVREELERWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQSTEGMEGAGG
NGSSNVHV
NT seq 2907 nt   +upstreamnt  +downstreamnt
atggtgaactccagtcgcgtgcagcctcagcagcccggggacgccaagcggccgcccgcg
ccccgcgcgccggacccgggccggctgatggctggctgcgcggccgtgggcgccagcctc
gccgccccgggcggcctctgcgagcagcggggcctggagatcgagatgcagcgcatccgg
caggcggccgcgcgggaccccccggccggagccgcggcctccccttctcctccgctctcg
tcgtgctcccggcaggcgtggagccgcgataaccccggcttcgaggccgaggaggaggag
gaggaggtggaaggggaagaaggcggaatggtggtggagatggacgtagagtggcgcccg
ggcagccggaggtcggccgcctcctcggccgtgagctccgtgggcgcgcggagccggggg
cttgggggctaccacggcgcgggccacccgagcgggaggcggcgccggcgagaggaccag
ggcccgccgtgccccagcccagtcggcggcggggacccgctgcatcgccacctccccctg
gaagggcagccgccccgagtggcctgggcggagaggctggttcgcgggctgcgaggtctc
tggggaacaagactcatggaggaaagcagcactaaccgagagaaataccttaaaagtgtt
ttacgggaactggtcacatacctcctttttctcatagtcttgtgcatcttgacctacggc
atgatgagctccaatgtgtactactacacccggatgatgtcacagctcttcctagacacc
cccgtgtccaaaacggagaaaactaactttaaaactctgtcttccatggaagacttctgg
aagttcacagaaggctccttattggatgggctgtactggaagatgcagcccagcaaccag
actgaagctgacaaccgaagtttcatcttctatgagaacctgctgttaggggttccacga
atacggcaactccgagtcagaaatggatcctgctctatcccccaggacttgagagatgaa
attaaagagtgctatgatgtctactctgtcagtagtgaagatagggctccctttgggccc
cgaaatggaaccgcttggatctacacaagtgaaaaagacttgaatggtagtagccactgg
ggaatcattgcaacttatagtggagctggctattatctggatttgtcaagaacaagagag
gaaacagctgcacaagttgctagcctcaagaaaaatgtctggctggaccgaggaaccagg
gcaacttttattgacttctcagtgtacaacgccaacattaacctgttctgtgtggtcagg
ttattggttgaattcccagcaacaggtggtgtgattccatcttggcaatttcagccttta
aagctgatccgatatgtcacaacttttgatttcttcctggcagcctgtgagattatcttt
tgtttctttatcttttactatgtggtggaagagatattggaaattcgcattcacaaacta
cactatttcaggagtttctggaattgtctggatgttgtgatcgttgtgctgtcagtggta
gctataggaattaacatatacagaacatcaaatgtggaggtgctactacagtttctggaa
gatcaaaatactttccccaactttgagcatctggcatattggcagatacagttcaacaat
atagctgctgtcacagtattttttgtctggattaagctcttcaaattcatcaattttaac
aggaccatgagccagctctcgacaaccatgtctcgatgtgccaaagacctgtttggcttt
gctattatgttcttcattattttcctagcgtatgctcagttggcataccttgtctttggc
actcaggtcgatgacttcagtactttccaagagtgtatcttcactcaattccgtatcatt
ttgggcgatatcaactttgcagagattgaggaagctaatcgagttttgggaccaatttat
ttcactacatttgtgttctttatgttcttcattcttttgaatatgtttttggctatcatc
aatgatacttactctgaagtgaaatctgacttggcacagcagaaagctgaaatggaactc
tcagatcttatcagaaagggctaccataaagctttggtcaaactaaaactgaaaaaaaat
accgtggatgacatttcagagagtctgcggcaaggaggaggcaagttaaactttgacgaa
cttcgacaagatctcaaagggaagggccatactgatgcagagattgaggcaatattcaca
aagtacgaccaagatggagaccaagaactgaccgaacatgaacatcagcagatgagagac
gacttggagaaagagagggaggacctggatttggatcacagttctttaccacgtcccatg
agcagccgaagtttccctcgaagcctggatgactctgaggaggatgacgatgaagatagc
ggacatagctccagaaggaggggaagcatttctagtggcgtttcttacgaagagtttcaa
gtcctggtgagacgagtggaccggatggagcattccatcggcagcatagtgtccaagatt
gacgccgtgatcgtgaagctagagattatggagcgagccaaactgaagaggagggaggtg
ctgggaaggctgttggatggggtggccgaggatgaaaggctgggtcgtgacagtgaaatc
catagggaacagatggaacggctagtacgtgaagagttggaacgctgggaatccgatgat
gcagcttcccagatcagtcatggtttaggcacgccagtgggactaaatggtcaacctcgc
cccagaagctcccgcccatcttcctcccaatctacagaaggcatggaaggtgcaggtgga
aatgggagttctaatgtccacgtatga

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