ENSG00000159248


Homo sapiens

Features
Gene ID: ENSG00000159248
  
Biological name :GJD2
  
Synonyms : gap junction protein delta 2 / GJD2 / Q9UKL4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q14
Gene start: 34751032
Gene end: 34754965
  
Corresponding Affymetrix probe sets: 221407_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000290374
NCBI entrez gene - 57369     See in Manteia.
OMIM - 607058
RefSeq - NM_020660
RefSeq - XM_017022438
RefSeq Peptide - NP_065711
swissprot - Q9UKL4
Ensembl - ENSG00000159248
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gjd2bENSDARG00000070781Danio rerio
 GJD2ENSGALG00000009845Gallus gallus
 Gjd2ENSMUSG00000068615Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GJA8 / P48165 / gap junction protein alpha 8ENSG0000012163436
GJA4 / P35212 / gap junction protein alpha 4ENSG0000018751335
GJC2 / Q5T442 / gap junction protein gamma 2ENSG0000019883535
GJA5 / P36382 / gap junction protein alpha 5ENSG0000026510735
GJA3 / Q9Y6H8 / gap junction protein alpha 3ENSG0000012174333
GJC1 / P36383 / gap junction protein gamma 1ENSG0000018296333
GJA9 / P57773 / gap junction protein alpha 9ENSG0000013123332
GJA10 / Q969M2 / gap junction protein alpha 10ENSG0000013535532
GJD3 / Q8N144 / gap junction protein delta 3ENSG0000018315331
GJA1 / P17302 / gap junction protein alpha 1ENSG0000015266130


Protein motifs (from Interpro)
Interpro ID Name
 IPR000500  Connexin
 IPR002260  Gap junction delta-2 protein (Cx36)
 IPR013092  Connexin, N-terminal
 IPR017990  Connexin, conserved site
 IPR019570  Gap junction protein, cysteine-rich domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001508 action potential IEA
 biological_processGO:0007154 cell communication IEA
 biological_processGO:0007267 cell-cell signaling IEA
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005921 gap junction IEA
 cellular_componentGO:0005922 connexin complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 molecular_functionGO:0005243 gap junction channel activity TAS


Pathways (from Reactome)
Pathway description
Electric Transmission Across Gap Junctions
Gap junction assembly


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000159248 GJD2 / Q9UKL4 / gap junction protein delta 2  / complex
 ENSG00000182963 GJC1 / P36383 / gap junction protein gamma 1  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr