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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autoinflammatory syndrome Likely pathogenic; Pathogenic rs779553737, rs80338807 RCV002262015
RCV002262558
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LPIN2-related disorder Pathogenic rs762442011 RCV004731143
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (29 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC MULTIFOCAL OSTEOMYELITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne HPO_DG
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 19717560
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 23517042
★☆☆☆☆
Found in Text Mining only
Autoinflammatory disorder Autoinflammatory Disease GENOMICS_ENGLAND_DG 27860302
★☆☆☆☆
Found in Text Mining only
Avellino corneal dystrophy Avellino Corneal Dystrophy GENOMICS_ENGLAND_DG 15994876, 23087183
★☆☆☆☆
Found in Text Mining only
Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia BEFREE 15994876
★☆☆☆☆
Found in Text Mining only
Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia GENOMICS_ENGLAND_DG 15994876, 23087183
★☆☆☆☆
Found in Text Mining only
Congenital hypoplastic anemia Congenital Hypoplastic Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital ichthyosis Congenital Ichthyosis BEFREE 25300978
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 20032092
★☆☆☆☆
Found in Text Mining only