Gene table of GJC2 : gap junction protein gamma 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with GJC2OMIM linkNumber of associated genesgenes
PS153100LYMPHEDEMA, HEREDITARYClinVar, OMIM, HUMSAVAR link to OMIM 3FLT4, VEGFC, GJC2
PS312080LEUKODYSTROPHY, HYPOMYELINATINGClinVar, OMIM, HUMSAVAR link to OMIM 13PYCR2, POLR3B, HIKESHI, AIMP1, GJC2, POLR3A, VPS11, PLP1, HSPD1, POLR1C, FAM126A, RARS, TUBB4A
PS303350SPASTIC PARAPLEGIAClinVar, OMIM, HUMSAVAR link to OMIM 47KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ARL6IP1, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, VPS37A, L1CAM, TFG, RTN2, CYP7B1, ERLIN2, KIF1A, AP4M1, AMPD2, SPAST, SPG20, AP4S1, HSPD1, SPG21, PLP1, REEP1, ALDH18A1, TECPR2, BSCL2, PNPLA6, SPG7, CYP2U1, NT5C2, NIPA1, DDHD1, CPT1C, ZFYVE27, AP4B1, FA2H

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Annotation of the gene GJC2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Membrane TraffickingR-HSA-1999915.26
Gap junction traffickingR-HSA-1908287.59
Vesicle-mediated transportR-HSA-56536564.33
Gap junction trafficking and regulationR-HSA-1578587.52
Gap junction assemblyR-HSA-1908618.03
Associated GO terms for Molecular function
GO termGO IDGO IC
transporter activityGO:00052152.57
transmembrane transporter activityGO:00228572.82
channel activityGO:00152673.6
wide pore channel activityGO:00228296.6
passive transmembrane transporter activityGO:00228033.6
gap junction channel activityGO:00052437.1