Gene table of PNPLA6 : patatin like phospholipase domain containing 6

Gene-disease associations table

Disease IDDisease nameSource of annotation with PNPLA6OMIM linkNumber of associated genesgenes
275400OLIVER-MCFARLANE SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1PNPLA6
215470BOUCHER-NEUHAUSER SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1PNPLA6
245800LAURENCE-MOON SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1PNPLA6
PS303350SPASTIC PARAPLEGIAClinVar, OMIM, 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

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Annotation of the gene PNPLA6

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
KEGG pathwayKEGG IDKEGG IC
Glycerophospholipid metabolismhsa005646.15
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
hydrolase activityGO:00167871.9
hydrolase activity, acting on ester bondsGO:00167883.1
catalytic activityGO:00038241.05
carboxylic ester hydrolase activityGO:00526894.81
lysophospholipase activityGO:00046226.69
phospholipase activityGO:00046205.16
lipase activityGO:00162984.96