KEGG   Homo sapiens (human): 51473
Entry
51473             CDS       T01001                                 
Symbol
DCDC2, DCDC2A, DFNB66, NPHP19, NSC, RU2, RU2S
Name
(RefSeq) doublecortin domain containing 2
  KO
K23405  doublecortin domain-containing protein 2
Organism
hsa  Homo sapiens (human)
Disease
H00537  Nephronophthisis
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    51473 (DCDC2)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Nephronophthisis-related proteins
   51473 (DCDC2)
SSDB
Motif
Pfam: DCX
Other DBs
NCBI-GeneID: 51473
NCBI-ProteinID: NP_001182539
OMIM: 605755
HGNC: 18141
Ensembl: ENSG00000146038
UniProt: Q9UHG0
Structure
Position
6:complement(24171755..24383292)
AA seq 476 aa
MSGSSARSSHLSQPVVKSVLVYRNGDPFYAGRRVVIHEKKVSSFEVFLKEVTGGVQAPFG
AVRNIYTPRTGHRIRKLDQIQSGGNYVAGGQEAFKKLNYLDIGEIKKRPMEVVNTEVKPV
IHSRINVSARFRKPLQEPCTIFLIANGDLINPASRLLIPRKTLNQWDHVLQMVTEKITLR
SGAVHRLYTLEGKLVESGAELENGQFYVAVGRDKFKKLPYSELLFDKSTMRRPFGQKASS
LPPIVGSRKSKGSGNDRHSKSTVGSSDNSSPQPLKRKGKKEDVNSEKLTKLKQNVKLKNS
QETIPNSDEGIFKAGAERSETRGAAEVQEDEDTQVEVPVDQRPAEIVDEEEDGEKANKDA
EQKEDFSGMNGDLEEEGGREATDAPEQVEEILDHSEQQARPARVNGGTDEENGEELQQVN
NELQLVLDKERKSQGAGSGQDEADVDPQRPPRPEVKITSPEENENNQQNKDYAAVA
NT seq 1431 nt   +upstreamnt  +downstreamnt
atgagcggcagcagcgccaggtccagccacctgtctcagcccgtcgtgaagagcgtgctt
gtgtaccgcaacggggaccccttctacgcggggcgccgcgtcgtcatccatgagaagaag
gtgtccagcttcgaagtcttcctgaaggaggtgaccggcggcgttcaggcaccctttggg
gccgtcaggaacatctacaccccgcggactggccaccgaatccggaagctagaccagatc
cagagcgggggcaattacgtggctggaggccaggaagccttcaagaaactcaattacttg
gacataggagaaatcaagaaaagaccaatggaagttgttaatacagaggtaaaaccagta
atccatagcaggatcaacgtgtcagctcgctttagaaaaccgcttcaggagccgtgcact
atcttcttgattgcaaatggagacctcataaacccagcttctcgcctccttatccccaga
aaaaccttgaatcagtgggatcatgtactacaaatggtcacagaaaaaatcactctgagg
agcggggctgttcacaggctttatactttagaaggaaaacttgttgagagtggagcagag
ttggagaatgggcagttttatgtggctgttggcagagataagtttaagaaactgccttac
agtgagttactttttgacaagtcaacgatgagaaggccttttggtcagaaagcttcttca
ctacctcctattgtaggatccagaaagtctaaagggagtggaaatgatcgccactctaag
tcaacagttggatccagtgacaactcatctcctcagcccctgaagaggaaagggaaaaaa
gaagacgtgaattcagaaaaactgacgaaattgaaacaaaatgtaaaattaaagaattca
caagaaaccattccaaatagtgatgaaggcattttcaaagctggagcagagaggtctgaa
acacggggggcagcagaagtccaagaagatgaagatactcaggttgaggttccagtcgat
cagaggccagcagaaatagtagacgaggaagaagatggagagaaggcaaacaaggatgca
gaacagaaagaagacttttcaggaatgaatggtgaccttgaagaggaaggaggtagggag
gctacagatgcccctgagcaagtcgaggagattctggatcacagtgagcagcaggcacgc
cctgctcgtgtaaatggaggcaccgatgaggagaatggtgaggagctgcagcaggttaat
aatgagcttcaactggtcctagacaaggaaagaaagtctcaaggagctggcagtggacaa
gatgaggctgatgtagaccctcaaagaccaccaaggccagaagtaaaaattaccagtcca
gaagaaaatgaaaacaaccaacaaaacaaggactatgctgccgtggcttag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (18)   
   RefSeq(nuc) (2)   
   GenBank (8)   
   EMBL (8)   
3D Structure (1)   
   PDB (1)   
Protein domain (1)   
   Pfam (1)   
All databases (46)   

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