Homo sapiens (human): 112476
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
CD225
Motif
Other DBs
NCBI-GeneID:
112476
NCBI-ProteinID:
NP_660282
OMIM:
614386
HGNC:
30500
Ensembl:
ENSG00000167371
UniProt:
Q7Z6L0
LinkDB
All DBs
Position
16:29812193..29815881
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AA seq
340 aa
AA seq
DB search
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVD
SGPKAGLAPETTETPAGASETAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATA
DQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPELPTQEDPTPEILSESVGEKQE
NGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQ
GDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK
NT seq
1023 nt
NT seq
+upstream
nt +downstream
nt
atggcagccagcagctctgagatctctgagatgaagggggttgaggagagtcccaaggtt
ccaggcgaagggcctggccattctgaagctgaaactggccctccccaggtcctagcaggg
gtaccagaccagccagaggccccgcagccaggtccaaacaccactgcggcccctgtggac
tcagggcccaaggctgggctggctccagaaaccacagagaccccggctggggcctcagaa
acagcccaggccacagacctcagcttaagcccaggaggggaatcaaaggccaactgcagc
cccgaagacccatgccaagaaacagtgtccaaaccagaagtgagcaaagaggccactgca
gaccaggggtccaggctggagtctgcagccccacctgaaccagccccagagcctgctccc
caaccagacccccggccagattcccagcctacccccaagccagcccttcaaccagagctc
cctacccaggaggaccccacccctgagattctgtctgagagtgtaggggaaaagcaagag
aatggggcagtggtgcccctgcaggctggtgatggggaagagggcccagcccctgagcct
cactcaccaccctcaaaaaaatcccccccagccaatggggcccccccccgagtgctgcag
cagctggttgaggaggatcgaatgagaagggcacacagtgggcatccaggatctccccga
ggtagcctgagccgccaccccagctcccagttggcaggtcctggggtggaggggggtgaa
ggcacccagaaacctcgggactacatcatccttgccatcctgtcctgcttctgccccatg
tggcctgtcaacatcgtggccttcgcttatgctgtcatgtcccggaacagcctgcagcag
ggggacgtggacggggcccagcgtctgggccgggtagccaagctcttaagcatcgtggcg
ctggtggggggagtcctcatcatcatcgcctcctgcgtcatcaacttaggcgtgtataag
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