KEGG   Homo sapiens (human): 127534
Entry
127534            CDS       T01001                                 

Gene name
GJB4, CX30.3, EKV, EKVP2
Definition
(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)
SSDB
Motif
Pfam: Connexin FA_desaturase
Other DBs
NCBI-GeneID: 127534
NCBI-ProteinID: NP_694944
OMIM: 605425
HGNC: 4286
Ensembl: ENSG00000189433
Vega: OTTHUMG00000004052
Pharos: Q9NTQ9(Tbio)
UniProt: Q9NTQ9 A0A654IBS8
Position
1p34.3
AA seq 266 aa
MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGC
PNVCYDEFFPVSHVRLWALQLILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNL
SKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPRVVACSVEPCPHTVDCYISRP
TEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS
QGGHPEDGNSVLMKAGSAPVDAGGYP
NT seq 801 nt   +upstreamnt  +downstreamnt
atgaactgggcatttctgcagggcctgctgagtggcgtgaacaagtactccacagtgctg
agccgcatctggctgtctgtggtgttcatctttcgtgtgctggtgtacgtggtggcagcg
gaggaggtgtgggacgatgagcagaaggactttgtctgcaacaccaagcagcccggctgc
cccaacgtctgctatgacgagttcttccccgtgtcccacgtgcgcctctgggccctacag
ctcatcctggtcacgtgcccctcactgctcgtggtcatgcacgtggcctaccgcgaggaa
cgcgagcgcaagcaccacctgaaacacgggcccaatgccccgtccctgtacgacaacctg
agcaagaagcggggcggactgtggtggacgtacttgctgagcctcatcttcaaggccgcc
gtggatgctggcttcctctatatcttccaccgcctctacaaggattatgacatgccccgc
gtggtggcctgctccgtggagccttgcccccacactgtggactgttacatctcccggccc
acggagaagaaggtcttcacctacttcatggtgaccacagctgccatctgcatcctgctc
aacctcagtgaagtcttctacctggtgggcaagaggtgcatggagatcttcggccccagg
caccggcggcctcggtgccgggaatgcctacccgatacgtgcccaccatatgtcctctcc
cagggagggcaccctgaggatgggaactctgtcctaatgaaggctgggtcggccccagtg
gatgcaggtgggtatccataa

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