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LPIN2 lipin 2 [ Homo sapiens (human) ]

Gene ID: 9663, updated on 1-Jun-2020

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

Genomic context

See LPIN2 in Genome Data Viewer
Location:
18p11.31
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (2916994..3013201, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (2916992..3013313, 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
Majeed syndrome
MedGen: C1864997 OMIM: 609628 GeneReviews: Majeed Syndrome
Compare labs

NHGRI GWAS Catalog

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

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
phosphatidate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidate phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coactivator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cellular lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to insulin stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylethanolamine biosynthetic process TAS
Traceable Author Statement
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
triglyceride biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
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)

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
  2. NM_001375809.1NP_001362738.1  phosphatidate phosphatase LPIN2

    Status: REVIEWED

    Source sequence(s)
    AP000919, AP005431
  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 (4) summary
    pfam15017
    Location:876895
    AF1Q; Drug resistance and apoptosis regulator
    pfam04571
    Location:1106
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:637862
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:469559
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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 (4) summary
    pfam15017
    Location:876895
    AF1Q; Drug resistance and apoptosis regulator
    pfam04571
    Location:1106
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:637862
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    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 (4) summary
    pfam15017
    Location:876895
    AF1Q; Drug resistance and apoptosis regulator
    pfam04571
    Location:1106
    Lipin_N; lipin, N-terminal conserved region
    pfam08235
    Location:637862
    LNS2; LNS2 (Lipin/Ned1/Smp2)
    pfam16876
    Location:469559
    Lipin_mid; Lipin/Ned1/Smp2 multi-domain protein middle domain

RNA

  1. XR_935074.2 RNA Sequence

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