PNPLA6 (patatin like phospholipase domain containing 6)

2016-10-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
BNHS,LNMS,NTE,NTEMND,OMCS,SPG39,iPLA2delta,sws
FUSION GENES

Other Information

Locus ID:

NCBI: 10908
MIM: 603197
HGNC: 16268
Ensembl: ENSG00000032444

Variants:

dbSNP: 10908
ClinVar: 10908
TCGA: ENSG00000032444
COSMIC: PNPLA6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000032444ENST00000221249Q8IY17
ENSG00000032444ENST00000414982Q8IY17
ENSG00000032444ENST00000450331Q8IY17
ENSG00000032444ENST00000545201Q8IY17
ENSG00000032444ENST00000593924M0QYF5
ENSG00000032444ENST00000594551M0QYT1
ENSG00000032444ENST00000595264M0R2C2
ENSG00000032444ENST00000596515M0QZD1
ENSG00000032444ENST00000599947M0QXH7
ENSG00000032444ENST00000600737A0A384DVU0
ENSG00000032444ENST00000600942M0R2H4
ENSG00000032444ENST00000601001M0R2K2
ENSG00000032444ENST00000601668M0QZK5
ENSG00000032444ENST00000646984A0A2R8Y7E1

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Glycerophospholipid metabolismKEGGhsa00564
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Glycerophospholipid catabolismREACTOMER-HSA-6814848

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
183130242008Neuropathy target esterase gene mutations cause motor neuron disease.69
150444612004Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells.64
119275842002Human neuropathy target esterase catalyzes hydrolysis of membrane lipids.50
243557082014PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.49
250330692014Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.27
255748982015Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.21
254809862015Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.20
252673402014Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.12
229031852013Neuronal phospholipid deacylation is essential for axonal and synaptic integrity.11
211710932011Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.8

Citation

Dessen P

PNPLA6 (patatin like phospholipase domain containing 6)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56457/pnpla6