KEGG   Homo sapiens (human): 5311
Entry
5311              CDS       T01001                                 

Gene name
PKD2, APKD2, PC2, PKD4, Pc-2, TRPP2
Definition
(RefSeq) polycystin 2, transient receptor potential cation channel
  KO
K04986  polycystin 2
Organism
hsa  Homo sapiens (human)
Disease
H00542  Polycystic kidney disease
H01728  Potter syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    5311 (PKD2)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    5311 (PKD2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Centrosome duplication proteins
    Other centrosome duplication proteins
     5311 (PKD2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Transient receptor potential channel (TRP)
   5311 (PKD2)
SSDB
Motif
Pfam: PKD_channel Ion_trans Fer4_24 EF-hand_1 EF-hand_6 EF-hand_8 DUF4201
Other DBs
NCBI-GeneID: 5311
NCBI-ProteinID: NP_000288
OMIM: 173910
HGNC: 9009
Ensembl: ENSG00000118762
Vega: OTTHUMG00000160982
Pharos: Q13563(Tchem)
UniProt: Q13563 Q9UEU6
Structure
PDB: 

Position
4q22.1
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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (32)   
   KEGG ORTHOLOGY (1)   
   RefGene (23)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   NAGAHAMA-S (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (7)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (27)   
   RefSeq(nuc) (5)   
   GenBank (11)   
   EMBL (11)   
Protein domain (7)   
   Pfam (7)   
All databases (81)   

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