KEGG   Homo sapiens (human): 112476
Entry
112476            CDS       T01001                                 

Gene name
PRRT2, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC
Definition
(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
Vega: OTTHUMG00000177142
Pharos: Q7Z6L0(Tbio)
UniProt: Q7Z6L0
Position
16p11.2
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

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