Homo sapiens (human): 5376
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Entry
5376 CDS
T01001
Symbol
PMP22, CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110
Name
(RefSeq) peripheral myelin protein 22
KO
K19289
peripheral myelin protein 22
Organism
hsa
Homo sapiens (human)
Pathway
hsa04517
IgSF CAM signaling
Network
nt06546
IgSF CAM signaling
Element
N01938
MPZ interactions
Disease
H00264
Charcot-Marie-Tooth disease
H01155
Roussy-Levy syndrome
H01296
Hereditary neuropathy with liability to pressure palsies
H01436
Guillain-Barre syndrome
H02359
Dejerine-Sottas disease
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09130 Environmental Information Processing
09133 Signaling molecules and interaction
04517 IgSF CAM signaling
5376 (PMP22)
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SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
PMP22_Claudin
Claudin_2
L_HMGIC_fpl
Connexin
TMEM37
DUF3169
Claudin_3
DUF4064
DUF2207_C
Motif
Other DBs
NCBI-GeneID:
5376
NCBI-ProteinID:
NP_000295
OMIM:
601097
HGNC:
9118
Ensembl:
ENSG00000109099
UniProt:
Q01453
Q6FH25
LinkDB
All DBs
Position
17:complement(15229779..15265326)
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AA seq
160 aa
AA seq
DB search
MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNE
WLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVR
HPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE
NT seq
483 nt
NT seq
+upstream
nt +downstream
nt
atgctcctcctgttgctgagtatcatcgtcctccacgtcgcggtgctggtgctgctgttc
gtctccacgatcgtcagccaatggatcgtgggcaatggacacgcaactgatctctggcag
aactgtagcacctcttcctcaggaaatgtccaccactgtttctcatcatcaccaaacgaa
tggctgcagtctgtccaggccaccatgatcctgtcgatcatcttcagcattctgtctctg
ttcctgttcttctgccaactcttcaccctcaccaaggggggcaggttttacatcactgga
atcttccaaattcttgctggtctgtgcgtgatgagtgctgcggccatctacacggtgagg
cacccggagtggcatctcaactcggattactcctacggtttcgcctacatcctggcctgg
gtggccttccccctggcccttctcagcggtgtcatctatgtgatcttgcggaaacgcgaa
tga
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integrated database retrieval system
