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    LPIN2 lipin 2 [ Homo sapiens (human) ]

    Gene ID: 9663, updated on 28-Oct-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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    See LPIN2 in Genome Data Viewer
    Location:
    18p11.31
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (2916994..3013144, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (3072495..3168675, complement)
    RS_2024_09 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 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: report of two Indian patients with novel variants in LPIN2 and review of literature. Badiger VA, et al. Clin Dysmorphol, 2024 Jan 1. PMID 37865862
    2. Lipin-2 regulates the antiviral and anti-inflammatory responses to interferon. de Pablo N, et al. EMBO Rep, 2023 Dec 6. PMID 37929625, Free PMC Article
    3. LPIN2-Related Majeed Syndrome. Adam MP, et al. , 1993. PMID 36877799
    4. Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. Zhou J, et al. Gene, 2005 Jun 6. PMID 15862761
    5. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). Ferguson PJ, et al. J Med Genet, 2005 Jul. PMID 15994876, Free PMC Article

    See all (43) 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
    		not available

    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_2024_08

    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

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