Homo sapiens (human): 57165
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Entry
57165 CDS
T01001
Symbol
GJC2, CX46.6, Cx47, GJA12, HLD2, LMPH1C, LMPHM3, PMLDAR, SPG44
Name
(RefSeq) gap junction protein gamma 2
KO
K07619
gap junction gamma-2 protein
Organism
hsa
Homo sapiens (human)
Disease
H00266
Hereditary spastic paraplegia
H00535
Lymphatic malformation
H00679
Hypomyelinating leukodystrophy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
02000 Transporters [BR:
hsa02000
]
57165 (GJC2)
Transporters [BR:
hsa02000
]
Other transporters
Pores ion channels [TC:
1
]
57165 (GJC2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Connexin
Motif
Other DBs
NCBI-GeneID:
57165
NCBI-ProteinID:
NP_065168
OMIM:
608803
HGNC:
17494
Ensembl:
ENSG00000198835
UniProt:
Q5T442
A0A654IBV7
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All DBs
Position
1:228149930..228159826
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AA seq
439 aa
AA seq
DB search
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQ
PGCDNVCYDAFAPLSHVRFWVFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGP
RRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETGAAEGAGEEAEEAGAEEACTK
AVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVR
PFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRG
RRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRD
GAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSAGTVGEQGRPGTHERPGAKPR
AGSEKGSASSRDGKTTVWI
NT seq
1320 nt
NT seq
+upstream
nt +downstream
nt
atgaccaacatgagctggagcttcctgacgcggctgctggaggagatccacaaccactcc
accttcgtgggcaaggtgtggctcacggtgctggtggtcttccgcatcgtgctgacggct
gtgggcggcgaggccatctactcggacgagcaggccaagttcacttgcaacacgcggcag
ccaggctgcgacaacgtctgctatgacgccttcgcgcccctgtcgcacgtgcgcttctgg
gtcttccagattgtggtcatctccacgccctcggtcatgtacctgggctacgccgtgcac
cgcctggcccgtgcgtctgagcaggagcggcgccgcgccctccgccgccgcccggggcca
cgccgcgcgccccgagcgcacctgccgcccccgcacgccggctggcctgagcccgccgac
ctgggcgaggaggagcccatgctgggcctgggcgaggaggaggaggaggaggagacgggg
gcagccgagggcgccggcgaggaagcggaggaggcaggcgcggaggaggcgtgcactaag
gcggtcggcgctgacggcaaggcggcagggaccccgggcccgaccgggcaacacgatggg
cggaggcgcatccagcgggagggcctgatgcgcgtgtacgtggcccagctggtggccagg
gcagctttcgaggtggccttcctggtgggccagtacctgctgtacggcttcgaggtgcga
ccgttctttccctgcagccgccagccctgcccgcacgtggtggactgcttcgtgtcgcgc
cctactgaaaagacggtcttcctgctggttatgtacgtggtcagctgcctgtgcctgctg
ctcaacctctgtgagatggcccacctgggcttgggcagcgcgcaggacgcggtgcgcggc
cgccgcggccccccggcctccgcccccgcccccgcgccgcggcccccgccctgcgccttc
cctgcggcggccgctggcttggcctgcccgcccgactacagcctggtggtgcgggcggcc
gagcgcgctcgggcgcatgaccagaacctggcaaacctggccctgcaggcgctgcgcgac
ggggcagcggctggggaccgcgaccgggacagttcgccgtgcgtcggcctccctgcggcc
tcccgggggccccccagagcaggcgcccccgcgtcccggacgggcagtgctacctctgcg
ggcactgtcggggagcagggccggcccggcacccacgagcggccaggagccaagcccagg
gctggctccgagaagggcagtgccagcagcagggacgggaagaccaccgtgtggatctga
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