KEGG   Homo sapiens (human): 80776
Entry
80776             CDS       T01001                                 
Symbol
B9D2, ICIS-1, JBTS34, MKS10, MKSR-2, MKSR2
Name
(RefSeq) B9 domain containing 2
  KO
K16745  B9 domain-containing protein 2
Organism
hsa  Homo sapiens (human)
Disease
H00261  Meckel syndrome
H00530  Joubert syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    80776 (B9D2)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  MKS complex
   80776 (B9D2)
SSDB
Motif
Pfam: B9-C2
Other DBs
NCBI-GeneID: 80776
NCBI-ProteinID: NP_085055
OMIM: 611951
HGNC: 28636
Ensembl: ENSG00000123810
Pharos: Q9BPU9(Tdark)
UniProt: Q9BPU9
Position
19:complement(41354417..41364149)
AA seq 175 aa
MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHP
IDLHFATKGLQGWPRLHFQVWSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWR
EQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLEIGLLLRNFDRYGVEC
NT seq 528 nt   +upstreamnt  +downstreamnt
atggctgaggtgcacgtgatcgggcagatcataggggccagcggtttctcggaaagtagc
ctcttctgcaagtggggcattcacacaggggcggcatggaagctcctgtcaggcgtgcgg
gagggccaaacgcaagtggacaccccgcagataggggacatggcttactggtcccacccc
atcgacctgcacttcgccaccaaaggtcttcaaggctggccccggctccatttccaggtg
tggtcccaggacagctttggccgctgccagcttgcaggctatggattttgccatgtgccc
agtagcccgggcacccaccagctggcctgccccacgtggcggcccctgggcagttggcga
gaacagttggcacgggctttcgtgggtggtgggccgcagctgctgcatggggacaccatc
tacagtggggccgaccgctatcgcctgcacacagctgctggtggcaccgtgcacctggag
atcggcctgctgctccgcaacttcgaccgctacggcgtggagtgctga

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