Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9663
Gene name Gene Name - the full gene name approved by the HGNC.
Lipin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LPIN2
Synonyms (NCBI Gene) Gene synonyms aliases
CRMO1, MJDS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MJDS
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18p11.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605519 14450 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 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Associations from Text Mining
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