Gene table of BSCL2 : BSCL2, seipin lipid droplet biogenesis associated

Gene-disease associations table

Disease IDDisease nameSource of annotation with BSCL2OMIM linkNumber of associated genesgenes
600794NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VAClinVar, OMIM, HUMSAVAR link to OMIM 2BSCL2, GARS
PS303350SPASTIC PARAPLEGIAOMIM, HUMSAVAR link to OMIM 47KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H
615924ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHYClinVar, OMIM link to OMIM 1BSCL2
PS608594LIPODYSTROPHY, CONGENITAL GENERALIZEDClinVar, OMIM, HUMSAVAR link to OMIM 4BSCL2, PTRF, AGPAT2, CAV1

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Annotation of the gene BSCL2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
protein bindingGO:00055150.46