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    LPIN2 lipin 2 [ Homo sapiens (human) ]

    Gene ID: 9663, updated on 8-Jul-2021

    Summary

    Official Symbol
    LPIN2provided by HGNC
    Official Full Name
    lipin 2provided by HGNC
    Primary source
    HGNC:HGNC:14450
    See related
    Ensembl:ENSG00000101577 MIM:605519
    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
    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
    NEW
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    Genomic context

    See LPIN2 in Genome Data Viewer
    Location:
    18p11.31
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (2916994..3013201, complement)
    105.20201022 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 Sharpr-MPRA regulatory region 4434 Neighboring gene elastin microfibril interfacer 2 Neighboring gene CHORDC1 pseudogene 4 Neighboring gene uncharacterized LOC105371963 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 10665 Neighboring gene myomesin 1 Neighboring gene RNA, U7 small nuclear 25 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    GeneReviews: Not available
    Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
    GeneReviews: Not available
    Majeed syndrome
    MedGen: C1864997 OMIM: 609628 GeneReviews: Not available
    Compare labs
    Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    enables transcription coactivator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cellular lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to insulin stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fatty acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphatidate phosphatase LPIN2
    NP_001362737.1
    NP_001362738.1
    NP_055461.1
    XP_005258234.1
    XP_016881587.1
    XP_016881588.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001375808.2NP_001362737.1  phosphatidate phosphatase LPIN2

      Status: REVIEWED

      Source sequence(s)
      AP000919, AP005431
      Related
      ENSP00000504857.1, ENST00000677752.1
      Conserved Domains (5) summary
      pfam02063
      Location:572654
      MARCKS; MARCKS family
      pfam04571
      Location:1106
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:637862
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam15017
      Location:875893
      WRNPLPNID; Putative WW-binding domain and destruction box
      pfam16876
      Location:469559
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    2. NM_001375809.1NP_001362738.1  phosphatidate phosphatase LPIN2

      Status: REVIEWED

      Source sequence(s)
      AP000919, AP005431
      Conserved Domains (5) summary
      pfam02063
      Location:572654
      MARCKS; MARCKS family
      pfam04571
      Location:1106
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:637862
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam15017
      Location:875893
      WRNPLPNID; Putative WW-binding domain and destruction box
      pfam16876
      Location:469559
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    3. NM_014646.2NP_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
      Q92539
      Related
      ENSP00000261596.4, ENST00000261596.8
      Conserved Domains (5) summary
      pfam02063
      Location:572654
      MARCKS; MARCKS family
      pfam04571
      Location:1106
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:637862
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam15017
      Location:875893
      WRNPLPNID; Putative WW-binding domain and destruction box
      pfam16876
      Location:469559
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      2916994..3013201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026098.1XP_016881587.1  phosphatidate phosphatase LPIN2 isoform X1

      UniProtKB/Swiss-Prot
      Q92539
      Conserved Domains (5) summary
      pfam02063
      Location:572654
      MARCKS; MARCKS family
      pfam04571
      Location:1106
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:637862
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam15017
      Location:875893
      WRNPLPNID; Putative WW-binding domain and destruction box
      pfam16876
      Location:469559
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    2. XM_005258177.4XP_005258234.1  phosphatidate phosphatase LPIN2 isoform X2

      Conserved Domains (4) summary
      pfam15017
      Location:913932
      AF1Q; Drug resistance and apoptosis regulator
      pfam04571
      Location:38143
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:674899
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam16876
      Location:506596
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain
    3. XM_017026099.1XP_016881588.1  phosphatidate phosphatase LPIN2 isoform X1

      UniProtKB/Swiss-Prot
      Q92539
      Conserved Domains (5) summary
      pfam02063
      Location:572654
      MARCKS; MARCKS family
      pfam04571
      Location:1106
      Lipin_N; lipin, N-terminal conserved region
      pfam08235
      Location:637862
      LNS2; LNS2 (Lipin/Ned1/Smp2)
      pfam15017
      Location:875893
      WRNPLPNID; Putative WW-binding domain and destruction box
      pfam16876
      Location:469559
      Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

    RNA

    1. XR_935074.2 RNA Sequence

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