KEGG   Homo sapiens (human): 51259Help
Entry
51259             CDS       T01001                                 

Gene name
TMEM216, HSPC244, CORS2, MKS2
Definition
(RefSeq) transmembrane protein 216
  KO
K19385  transmembrane protein 216
Organism
hsa  Homo sapiens (human)
Disease
H00261  Meckel syndrome (MKS)
H00530  Joubert syndrome
Brite
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic Type
  Centrosome formation and ciliogenesis proteins
   TCTN-B9D complex
    51259 (TMEM216)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Transmemb_17 YrhC
Motif
Other DBs
NCBI-GeneID: 51259
NCBI-ProteinID: NP_001167461
OMIM: 613277
HGNC: 25018
Ensembl: ENSG00000187049
Vega: OTTHUMG00000168146
Pharos: Q9P0N5(Tbio)
UniProt: Q9P0N5
Position
11q12.2
AA seq 145 aa AA seqDB search
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDV
VMLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIM
NGILLFFCGSELLLEVLTLAAFSRI
NT seq 438 nt NT seq  +upstreamnt  +downstreamnt
atgctgccacggggactgaagatggcgccgcgaggtaaacggttgtcctccaccccgctg
gaaatcctgttctttctgaacgggtggtataatgctacctatttcctgctggaacttttc
atatttctgtataaaggtgtcctgctaccatatccaacagctaacctagtactggatgtg
gtgatgctcctcctttatcttggaattgaagtaattcgcctgttttttggtacaaaggga
aacctctgccagcgaaagatgccgctcagtattagcgtggccttgaccttcccatctgcc
atgatggcctcctattacctgctgctgcagacctacgtactccgcctggaagccatcatg
aatggcatcttgctcttcttctgtggctcagagcttttacttgaggtgctcaccttggct
gctttctccaggatttga

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