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

  All links  
Ontology (1)   
   KEGG BRITE (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (6)   
   RefSeq(nuc) (2)   
   GenBank (2)   
   EMBL (2)   
Protein domain (2)   
   Pfam (2)   
All databases (32)   

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