KEGG   Homo sapiens (human): 57165
Entry
57165             CDS       T01001                                 

Gene name
GJC2, CX46.6, Cx47, GJA12, HLD2, LMPH1C, LMPHM3, PMLDAR, SPG44
Definition
(RefSeq) gap junction protein gamma 2
  KO
K07619  gap junction gamma-2 protein
Organism
hsa  Homo sapiens (human)
Disease
H00266  Hereditary spastic paraplegia
H00535  Hereditary lymphedema
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)
SSDB
Motif
Pfam: Connexin
Other DBs
NCBI-GeneID: 57165
NCBI-ProteinID: NP_065168
OMIM: 608803
HGNC: 17494
Ensembl: ENSG00000198835
Vega: OTTHUMG00000039771
Pharos: Q5T442(Tbio)
UniProt: Q5T442 A0A654IBV7
Position
1q42.13
AA seq 439 aa
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQ
PGCDNVCYDAFAPLSHVRFWVFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGP
RRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETGAAEGAGEEAEEAGAEEACTK
AVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVR
PFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRG
RRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRD
GAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSAGTVGEQGRPGTHERPGAKPR
AGSEKGSASSRDGKTTVWI
NT seq 1320 nt   +upstreamnt  +downstreamnt
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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