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LPIN2 lipin 2 [ Homo sapiens (human) ]

Gene ID: 9663, updated on 3-Apr-2024

Summary

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Official Symbol
LPIN2provided by HGNC
Official Full Name
lipin 2provided by HGNC
Primary source
HGNC:HGNC:14450
See related
Ensembl:ENSG00000101577 MIM:605519; AllianceGenome:HGNC:14450
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MJDS; CRMO1
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]
Expression
Ubiquitous expression in liver (RPKM 28.7), duodenum (RPKM 22.4) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
18p11.31
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (2916994..3013144, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (3072495..3168675, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (2916992..3013142, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene structural maintenance of chromosomes flexible hinge domain containing 1 Neighboring gene uncharacterized LOC124904372 Neighboring gene Sharpr-MPRA regulatory region 3375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9249 Neighboring gene Sharpr-MPRA regulatory region 4434 Neighboring gene elastin microfibril interfacer 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:2919273-2920004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13031 Neighboring gene CHORDC1 pseudogene 4 Neighboring gene uncharacterized LOC105371963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:2974861-2975362 Neighboring gene uncharacterized LOC124904236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:2998944-2999866 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:3003878-3004395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9251 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 4192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:3051522-3052022 Neighboring gene Sharpr-MPRA regulatory region 10665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13036 Neighboring gene myomesin 1 Neighboring gene RNA, U7 small nuclear 25 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. LPIN2-Related Majeed Syndrome. Adam MP, et al. , 1993. PMID 36877799
  2. Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis. Bhuyan F, et al. Arthritis Rheumatol, 2021 Jun. PMID 33314777, Free PMC Article
  3. Efficacy of anti-IL-1 treatment in Majeed syndrome. Herlin T, et al. Ann Rheum Dis, 2013 Mar. PMID 23087183, Free PMC Article
  4. Majeed Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Adam MP, et al. , 1993. PMID 20301735
  5. LPIN2 is associated with type 2 diabetes, glucose metabolism, and body composition. Aulchenko YS, et al. Diabetes, 2007 Dec. PMID 17804763

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature.
    Title: LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature.
  2. Lipin-2 regulates the antiviral and anti-inflammatory responses to interferon.
    Title: Lipin-2 regulates the antiviral and anti-inflammatory responses to interferon.
  3. Identification of lipidomic profiles associated with drug-resistant prostate cancer cells.
    Title: Identification of lipidomic profiles associated with drug-resistant prostate cancer cells.
  4. Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis.
    Title: Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis.
  5. Data reveal that LPIN2 silencing interferes with HCV virion secretion at late stages of the infection, without significantly LPIN2-deficient cells display alterations in mitochondrial and Golgi apparatus morphology, suggesting that LPIN2 contributes to the maintenance of the overall organelle architecture. These data suggest a broader function of LPIN2 for replication of HCV and other RNA viruses.
    Title: Differential Roles of Lipin1 and Lipin2 in the Hepatitis C Virus Replication Cycle.
  6. we proposed that four newly identified peripheral blood mononuclear cells-derived genes( DHRS3, TTC38, SAP30BP and LPIN2 )could be integrated with previously reported rheumatoid arthritis (RA)-associated genes to monitor and/or diagnose RA.
    Title: New genes associated with rheumatoid arthritis identified by gene expression profiling.
  7. Structural variants unique to the malignant cell line inactivated: LPIN2, a phosphatidic acid phosphatase and a co-factor of PGC1a that is important for lipid metabolism and for suppressing autoinflammation.
    Title: Chromosomal structural variations during progression of a prostate epithelial cell line to a malignant metastatic state inactivate the NF2, NIPSNAP1, UGT2B17, and LPIN2 genes.
  8. We describe two brothers with Majeed syndrome, homozygous novel 2-base pair deletion in LPIN2 (c.1312_1313delCT; p.Leu438fs+16X)
    Title: Efficacy of anti-IL-1 treatment in Majeed syndrome.
  9. LPIN1-related myolysis constitutes a major cause of early-onset rhabdomyolysis and occasionally in adults. Heterozygous LPIN1 mutations may cause mild muscular symptoms. No major defects of LPIN2 or LPIN3 genes were associated with muscle manifestations.
    Title: Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
  10. role of lipin-2 in the proinflammatory action of saturated fatty acids in murine and human macrophages
    Title: Lipin-2 reduces proinflammatory signaling induced by saturated fatty acids in macrophages.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Majeed syndrome
MedGen: C1864997 OMIM: 609628 GeneReviews: LPIN2-Related Majeed Syndrome
Compare labs

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog
Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
EBI GWAS Catalog
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0249

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidate phosphatase activity EXP
Inferred from Experiment
more info
 PubMed 
enables phosphatidate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidate phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription coactivator activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in cellular response to insulin stimulus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in triglyceride biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in triglyceride biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
phosphatidate phosphatase LPIN2
NP_001362737.1
NP_001362738.1
NP_055461.1
XP_005258234.1
XP_016881588.1
XP_047293914.1
XP_047293915.1
XP_054175366.1
XP_054175367.1
XP_054175368.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007507.1 RefSeqGene

    Range
    5001..99954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_174

mRNA and Protein(s)

  1. NM_001375808.2 → NP_001362737.1  phosphatidate phosphatase LPIN2

    Status: REVIEWED

    Source sequence(s)
    AP000919, AP005431
    Consensus CDS
    CCDS11829.1
    UniProtKB/Swiss-Prot
    A7MD25, D3DUH3, Q92539
    UniProtKB/TrEMBL
    A0A8V8TLW1
    Related
    ENSP00000504857.1, ENST00000677752.1
    Conserved Domains (5) summary
    pfam02063
    Location:572 → 654
    MARCKS; MARCKS family
    pfam04571
    Location:1 → 106
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:637 → 862
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam15017
    Location:875 → 893
    WRNPLPNID; Putative WW-binding domain and destruction box
    pfam16876
    Location:469 → 559
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  2. NM_001375809.1 → NP_001362738.1  phosphatidate phosphatase LPIN2

    Status: REVIEWED

    Source sequence(s)
    AP000919, AP005431
    Consensus CDS
    CCDS11829.1
    UniProtKB/Swiss-Prot
    A7MD25, D3DUH3, Q92539
    UniProtKB/TrEMBL
    A0A8V8TLW1
    Related
    ENSP00000513062.1, ENST00000697040.1
    Conserved Domains (5) summary
    pfam02063
    Location:572 → 654
    MARCKS; MARCKS family
    pfam04571
    Location:1 → 106
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:637 → 862
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam15017
    Location:875 → 893
    WRNPLPNID; Putative WW-binding domain and destruction box
    pfam16876
    Location:469 → 559
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  3. NM_014646.2 → NP_055461.1  phosphatidate phosphatase LPIN2

    See identical proteins and their annotated locations for NP_055461.1

    Status: REVIEWED

    Source sequence(s)
    AP000919, BC152448, BQ014306
    Consensus CDS
    CCDS11829.1
    UniProtKB/Swiss-Prot
    A7MD25, D3DUH3, Q92539
    UniProtKB/TrEMBL
    A0A8V8TLW1
    Related
    ENSP00000261596.4, ENST00000261596.9
    Conserved Domains (5) summary
    pfam02063
    Location:572 → 654
    MARCKS; MARCKS family
    pfam04571
    Location:1 → 106
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:637 → 862
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam15017
    Location:875 → 893
    WRNPLPNID; Putative WW-binding domain and destruction box
    pfam16876
    Location:469 → 559
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    2916994..3013144 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437958.1 → XP_047293914.1  phosphatidate phosphatase LPIN2 isoform X2

  2. XM_005258177.5 → XP_005258234.1  phosphatidate phosphatase LPIN2 isoform X1

    UniProtKB/TrEMBL
    A0A8V8TLW1
    Conserved Domains (4) summary
    pfam15017
    Location:913 → 932
    AF1Q; Drug resistance and apoptosis regulator
    pfam04571
    Location:38 → 143
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:674 → 899
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:506 → 596
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  3. XM_017026099.2 → XP_016881588.1  phosphatidate phosphatase LPIN2 isoform X3

    UniProtKB/Swiss-Prot
    A7MD25, D3DUH3, Q92539
    UniProtKB/TrEMBL
    A0A8V8TLW1
    Conserved Domains (5) summary
    pfam02063
    Location:572 → 654
    MARCKS; MARCKS family
    pfam04571
    Location:1 → 106
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:637 → 862
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam15017
    Location:875 → 893
    WRNPLPNID; Putative WW-binding domain and destruction box
    pfam16876
    Location:469 → 559
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

  4. XM_047437959.1 → XP_047293915.1  phosphatidate phosphatase LPIN2 isoform X3

    UniProtKB/Swiss-Prot
    A7MD25, D3DUH3, Q92539

RNA

  1. XR_935074.3 RNA Sequence

    Related
    ENST00000697042.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    3072495..3168675 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319392.1 → XP_054175367.1  phosphatidate phosphatase LPIN2 isoform X2

  2. XM_054319391.1 → XP_054175366.1  phosphatidate phosphatase LPIN2 isoform X1

  3. XM_054319393.1 → XP_054175368.1  phosphatidate phosphatase LPIN2 isoform X3

    UniProtKB/Swiss-Prot
    A7MD25, D3DUH3, Q92539

RNA

  1. XR_008485036.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92539.1 GenPept UniProtKB/Swiss-Prot:Q92539

Gene LinkOut

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