Gene Gene information from NCBI Gene database.
Entrez ID 9663
Gene name Lipin 2
Gene symbol LPIN2
Synonyms (NCBI Gene)
CRMO1MJDS
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, hy
SNPs SNP information provided by dbSNP.
18
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
miRNA miRNA information provided by mirtarbase database.
318
miRTarBase ID miRNA Experiments Reference
MIRT017765 hsa-miR-335-5p Microarray 18185580
MIRT039153 hsa-miR-769-5p CLASH 23622248
MIRT1116381 hsa-miR-1915 CLIP-seq
MIRT1116382 hsa-miR-197 CLIP-seq
MIRT1116383 hsa-miR-2052 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity IBA
GO:0003713 Function Transcription coactivator activity IEA
GO:0003713 Function Transcription coactivator activity ISS
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605519 14450 ENSG00000101577
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 endoplasmic reticulum
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
Tissue specificity TISSUE SPECIFICITY: Expressed in liver, lung, kidney, placenta, spleen, thymus, lymph node, prostate, testes, small intestine, and colon. {ECO:0000269|PubMed:15994876, ECO:0000269|PubMed:17158099}.
Sequence
MNYVGQLAGQVIVTVKELYKGINQATLSGCIDVIVVQQQDGSYQCSPFHVRFGKLGVLRS
KEKVIDIEINGSAVDLHMKLGDNGEAFFVEETEEEYEKLPAYLATSP
IPTEDQFFKDIDT
PLVKSGGDETPSQSSDISHVLETETIFTPSSVKKKKRRRKKYKQDSKKEEQAASAAAEDT
CDVGVSSDDDKGAQAARGSSNASLKEEECKEPLLFHSGDHYPLSDGDWSPLETTYPQTAC
PKSDSELEVKPAESLLRSESHMEWTWGGFPESTKVSKRERSDHHPRTATITPSENTHFRV
IPSEDNLISEVEKDASMEDTVCTIVKPKPRALGTQMSDPTSVAELLEPPLESTQISSMLD
ADHLPNAALAEAPSESKPAAKVDSPSKKKGVHKRSQHQGPDDIYLDDLKGLEPEVAALYF
PKSESEPGSRQWPESDTLSGSQSPQSVGSAAADSGTECLSDSAMDLPDVTLSLCGGLSEN
GEISKEKFMEHIITYHEFAENPGLIDNPNLVIRIYNRYYNWALAAPMILSLQVFQKSLPK
ATVESWVKDKMPKKSGRWWFW
RKRESMTKQLPESKEGKSEAPPASDLPSSSKEPAGARPA
ENDSSSDEGSQELEESITVDPIPTEPLSHGSTTSYKKSLRLSSDQIAKLKLHDGPNDVVF
SITTQYQGTCRCAGTIYLWNWNDKIIISDIDGTITKSDALGQILPQLGKDWTHQGIAKLY
HSINENGYKFLYCSARAIGMADMTRGYLHWVNDKGTILPRGPLMLSPSSLFSAFHREVIE
KKPEKFKIECLNDIKNLFAPSKQPFYAAFGNRPNDVYAYTQVGVPDCRIFTVNPKGELIQ
ERTKGNKSSYHRLSELVEHVFP
LLSKEQNSAFPCPEFSSFCYWRDPIPEVDLDDLS
Sequence length 896
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerolipid metabolism
Glycerophospholipid metabolism
Metabolic pathways
mTOR signaling pathway
Alcoholic liver disease
  Synthesis of PC
Synthesis of PE
Depolymerisation of the Nuclear Lamina
Triglyceride biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
911
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoinflammatory syndrome Likely pathogenic; Pathogenic rs779553737, rs80338807 RCV002262015
RCV002262558
LPIN2-related disorder Pathogenic rs762442011 RCV004731143
Majeed syndrome Pathogenic; Likely pathogenic rs771295943, rs1449758984, rs2143137428, rs762442011, rs2144133234, rs759667494, rs2144209550, rs2144194297, rs2144133348, rs2144204081, rs2144112462, rs2144112758, rs779553737, rs2510249341, rs1317098432
View all (19 more)
RCV001594431
RCV002605572
RCV001378100
RCV001381032
RCV001388894
RCV001380459
RCV001420968
RCV001994590
RCV001923474
RCV002000757
RCV001941140
RCV001973647
RCV005058193
RCV003041328
RCV003084369
RCV000005190
RCV000005191
RCV002811257
RCV003021939
RCV005632336
RCV001854731
RCV003504635
RCV003504975
RCV003505652
RCV003611790
RCV003845887
RCV003988950
RCV000020709
RCV000661951
RCV000687297
RCV000813715
RCV001061770
RCV001050150
RCV001244419
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs199830303 RCV005890915
Familial cancer of breast Likely benign rs199713353 RCV005890966
Gastric cancer Uncertain significance rs564971189 RCV005913782
Malignant lymphoma, large B-cell, diffuse Benign rs9635812 RCV005916790
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Fever Associate 31727123
Hereditary Autoinflammatory Diseases Inhibit 23792589
Hereditary Autoinflammatory Diseases Associate 33042144
Inflammation Associate 33314777
Keratoconus Associate 37965330
Lymphatic Metastasis Associate 34789197
Majeed syndrome Associate 17330256, 23087183, 31727123, 33314777
Neutropenia Associate 31727123
Obesity Associate 37047702
Optic Nerve Hypoplasia Associate 32602905