KEGG   Homo sapiens (human): 645104
Entry
645104            CDS       T01001                                 
Symbol
CLRN2, DFNB117
Name
(RefSeq) clarin 2
  KO
K23841  clarin
Organism
hsa  Homo sapiens (human)
Disease
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]
    645104 (CLRN2)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  USH complex and associated proteins
   645104 (CLRN2)
SSDB
Motif
Pfam: PMP22_Claudin
Other DBs
NCBI-GeneID: 645104
NCBI-ProteinID: NP_001073296
OMIM: 618988
HGNC: 33939
Ensembl: ENSG00000249581
UniProt: A0PK11
Position
4:17515165..17527104
AA seq 232 aa
MPGWFKKAWYGLASLLSFSSFILIIVALVVPHWLSGKILCQTGVDLVNATDRELVKFIGD
IYYGLFRGCKVRQCGLGGRQSQFTIFPHLVKELNAGLHVMILLLLFLALALALVSMGFAI
LNMIQVPYRAVSGPGGICLWNVLAGGVVALAIASFVAAVKFHDLTERIANFQEKLFQFVV
VEEQYEESFWICVASASAHAANLVVVAISQIPLPEIKTKIEEATVTAEDILY
NT seq 699 nt   +upstreamnt  +downstreamnt
atgcctggatggttcaaaaaggcgtggtatgggctggcgtctttactcagcttctcctcc
ttcatcctgatcatcgttgccctggtagtgccccactggctgagtgggaaaatcctttgt
cagactggagtggatctggtcaacgccacagacagagagctggtcaagttcattggggac
atttactacgggctcttccgagggtgtaaagtgcggcagtgtgggcttgggggccgccaa
tcccaattcacgatcttcccacacctggtgaaggagctcaacgcaggccttcatgtgatg
attctgctgctcctcttcctggccttggccctggctctggtcagcatgggctttgccatt
cttaacatgatccaggtcccgtaccgggcagtcagcggtcctgggggcatctgcctatgg
aatgtcctggcaggcggcgtcgtggcgttagccatcgccagcttcgtggctgcggtgaaa
tttcacgacctgacggaacgaatcgccaactttcaggagaagctcttccagtttgtggtg
gtggaagaacagtatgaagagtcgttttggatctgcgtggccagcgcttcggcccatgct
gcaaacttggtcgtggtggcgatcagtcaaattcccctccctgagattaagaccaaaatc
gaagaggccacggtcacagctgaggatatcttgtattaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (6)   
   KEGG ORTHOLOGY (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (3)   
   RefSeq(nuc) (1)   
   GenBank (1)   
   EMBL (1)   
Protein domain (1)   
   Pfam (1)   
All databases (19)   

Download RDF
DBGET integrated database retrieval system