Homo sapiens (human): 127534
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Entry
127534 CDS
T01001
Symbol
GJB4, CX30.3, EKV, EKVP2
Name
(RefSeq) gap junction protein beta 4
KO
K07623
gap junction beta-4 protein
Organism
hsa
Homo sapiens (human)
Disease
H00710
Erythrokeratodermia variabilis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09190 Not Included in Pathway or Brite
09193 Unclassified: signaling and cellular processes
99992 Structural proteins
127534 (GJB4)
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Gene cluster
GFIT
Motif
Pfam:
Connexin
FA_desaturase
Motif
Other DBs
NCBI-GeneID:
127534
NCBI-ProteinID:
NP_694944
OMIM:
605425
HGNC:
4286
Ensembl:
ENSG00000189433
UniProt:
Q9NTQ9
A0A654IBS8
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Position
1:34759740..34762327
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AA seq
266 aa
AA seq
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MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGC
PNVCYDEFFPVSHVRLWALQLILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNL
SKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPRVVACSVEPCPHTVDCYISRP
TEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS
QGGHPEDGNSVLMKAGSAPVDAGGYP
NT seq
801 nt
NT seq
+upstream
nt +downstream
nt
atgaactgggcatttctgcagggcctgctgagtggcgtgaacaagtactccacagtgctg
agccgcatctggctgtctgtggtgttcatctttcgtgtgctggtgtacgtggtggcagcg
gaggaggtgtgggacgatgagcagaaggactttgtctgcaacaccaagcagcccggctgc
cccaacgtctgctatgacgagttcttccccgtgtcccacgtgcgcctctgggccctacag
ctcatcctggtcacgtgcccctcactgctcgtggtcatgcacgtggcctaccgcgaggaa
cgcgagcgcaagcaccacctgaaacacgggcccaatgccccgtccctgtacgacaacctg
agcaagaagcggggcggactgtggtggacgtacttgctgagcctcatcttcaaggccgcc
gtggatgctggcttcctctatatcttccaccgcctctacaaggattatgacatgccccgc
gtggtggcctgctccgtggagccttgcccccacactgtggactgttacatctcccggccc
acggagaagaaggtcttcacctacttcatggtgaccacagctgccatctgcatcctgctc
aacctcagtgaagtcttctacctggtgggcaagaggtgcatggagatcttcggccccagg
caccggcggcctcggtgccgggaatgcctacccgatacgtgcccaccatatgtcctctcc
cagggagggcaccctgaggatgggaactctgtcctaatgaaggctgggtcggccccagtg
gatgcaggtgggtatccataa
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