LPIN2 (lipin 2)

Gene

• Entrez ID: 9663
• Gene name: Lipin 2
• Gene symbol: LPIN2
• Synonyms: -
• Chromosome: 18
• Chromosome location: 18p11.31
• Summary: Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17555442	G>A	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs80338806	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80338807	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs80338808	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs104895500	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs116643915	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, 5 prime UTR variant
rs140249737	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs150022314	A>C,G	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200648652	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs201325845	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs318240736	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs746626720	A>-,AA,AAAAAAAA	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant
rs750126005	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs756933588	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs876660982	->ACAC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs916009547	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1175109245	G>A,T	Pathogenic	Intron variant, missense variant, stop gained, coding sequence variant
rs1598522408	GCTGTTCCTTGCCACCCACCTGAAGGATTGAGCTTACTTGG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, genic downstream transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017765	hsa-miR-335-5p	Microarray	18185580
MIRT039153	hsa-miR-769-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IBA	21873635
GO:0003713	Function	Transcription coactivator activity	ISS
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006629	Process	Lipid metabolic process	ISS
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	TAS
GO:0006656	Process	Phosphatidylcholine biosynthetic process	TAS
GO:0008195	Function	Phosphatidate phosphatase activity	IBA	21873635
GO:0008195	Function	Phosphatidate phosphatase activity	ISS
GO:0009062	Process	Fatty acid catabolic process	IBA	21873635
GO:0016311	Process	Dephosphorylation	IEA
GO:0019432	Process	Triglyceride biosynthetic process	IBA	21873635
GO:0019432	Process	Triglyceride biosynthetic process	TAS
GO:0032869	Process	Cellular response to insulin stimulus	IBA	21873635
GO:0044255	Process	Cellular lipid metabolic process	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS

Other IDs

• MIM: 605519
• HGNC: 14450
• e!Ensembl: ENSG00000101577

Protein

• UniProt ID: Q92539
• Protein name: Phosphatidate phosphatase LPIN2 (EC 3.1.3.4) (Lipin-2)
• Protein function: Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Plays important roles in controlling the metabolism of fatty acids at different levels. Acts also as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04571	Lipin_N	1 → 107	lipin, N-terminal conserved region	Family
  PF16876	Lipin_mid	469 → 561	Lipin/Ned1/Smp2 multi-domain protein middle domain	Family
  PF08235	LNS2	637 → 862	LNS2 (Lipin/Ned1/Smp2)	Domain

• Sequence:

  MNYVGQLAGQVIVTVKELYKGINQATLSGCIDVIVVQQQDGSYQCSPFHVRFGKLGVLRS
  KEKVIDIEINGSAVDLHMKLGDNGEAFFVEETEEEYEKLPAYLATSPIPTEDQFFKDIDT
  PLVKSGGDETPSQSSDISHVLETETIFTPSSVKKKKRRRKKYKQDSKKEEQAASAAAEDT
  CDVGVSSDDDKGAQAARGSSNASLKEEECKEPLLFHSGDHYPLSDGDWSPLETTYPQTAC
  PKSDSELEVKPAESLLRSESHMEWTWGGFPESTKVSKRERSDHHPRTATITPSENTHFRV
  IPSEDNLISEVEKDASMEDTVCTIVKPKPRALGTQMSDPTSVAELLEPPLESTQISSMLD
  ADHLPNAALAEAPSESKPAAKVDSPSKKKGVHKRSQHQGPDDIYLDDLKGLEPEVAALYF
  PKSESEPGSRQWPESDTLSGSQSPQSVGSAAADSGTECLSDSAMDLPDVTLSLCGGLSEN
  GEISKEKFMEHIITYHEFAENPGLIDNPNLVIRIYNRYYNWALAAPMILSLQVFQKSLPK
  ATVESWVKDKMPKKSGRWWFWRKRESMTKQLPESKEGKSEAPPASDLPSSSKEPAGARPA
  ENDSSSDEGSQELEESITVDPIPTEPLSHGSTTSYKKSLRLSSDQIAKLKLHDGPNDVVF
  SITTQYQGTCRCAGTIYLWNWNDKIIISDIDGTITKSDALGQILPQLGKDWTHQGIAKLY
  HSINENGYKFLYCSARAIGMADMTRGYLHWVNDKGTILPRGPLMLSPSSLFSAFHREVIE
  KKPEKFKIECLNDIKNLFAPSKQPFYAAFGNRPNDVYAYTQVGVPDCRIFTVNPKGELIQ
  ERTKGNKSSYHRLSELVEHVFPLLSKEQNSAFPCPEFSSFCYWRDPIPEVDLDDLS

• Sequence length: 896