KEGG   Homo sapiens (human): 112476
Entry
112476            CDS       T01001                                 
Symbol
PRRT2, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC
Name
(RefSeq) proline rich transmembrane protein 2
  KO
K23897  proline-rich transmembrane protein 2
Organism
hsa  Homo sapiens (human)
Disease
H00831  Primary dystonia
H02362  Benign familial infantile seizure
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    112476 (PRRT2)
Transporters [BR:hsa02000]
 Other transporters
  Accessory factors involved in transport [TC:8]
   112476 (PRRT2)
SSDB
Motif
Pfam: CD225 DUF2852
Other DBs
NCBI-GeneID: 112476
NCBI-ProteinID: NP_660282
OMIM: 614386
HGNC: 30500
Ensembl: ENSG00000167371
UniProt: Q7Z6L0
Position
16:29812193..29815881
AA seq 340 aa
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVD
SGPKAGLAPETTETPAGASETAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATA
DQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPELPTQEDPTPEILSESVGEKQE
NGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQ
GDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK
NT seq 1023 nt   +upstreamnt  +downstreamnt
atggcagccagcagctctgagatctctgagatgaagggggttgaggagagtcccaaggtt
ccaggcgaagggcctggccattctgaagctgaaactggccctccccaggtcctagcaggg
gtaccagaccagccagaggccccgcagccaggtccaaacaccactgcggcccctgtggac
tcagggcccaaggctgggctggctccagaaaccacagagaccccggctggggcctcagaa
acagcccaggccacagacctcagcttaagcccaggaggggaatcaaaggccaactgcagc
cccgaagacccatgccaagaaacagtgtccaaaccagaagtgagcaaagaggccactgca
gaccaggggtccaggctggagtctgcagccccacctgaaccagccccagagcctgctccc
caaccagacccccggccagattcccagcctacccccaagccagcccttcaaccagagctc
cctacccaggaggaccccacccctgagattctgtctgagagtgtaggggaaaagcaagag
aatggggcagtggtgcccctgcaggctggtgatggggaagagggcccagcccctgagcct
cactcaccaccctcaaaaaaatcccccccagccaatggggcccccccccgagtgctgcag
cagctggttgaggaggatcgaatgagaagggcacacagtgggcatccaggatctccccga
ggtagcctgagccgccaccccagctcccagttggcaggtcctggggtggaggggggtgaa
ggcacccagaaacctcgggactacatcatccttgccatcctgtcctgcttctgccccatg
tggcctgtcaacatcgtggccttcgcttatgctgtcatgtcccggaacagcctgcagcag
ggggacgtggacggggcccagcgtctgggccgggtagccaagctcttaagcatcgtggcg
ctggtggggggagtcctcatcatcatcgcctcctgcgtcatcaacttaggcgtgtataag
tga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (13)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (35)   
   RefSeq(nuc) (11)   
   GenBank (12)   
   EMBL (12)   
Protein domain (2)   
   Pfam (2)   
All databases (74)   

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