Seroatlas · Human Serome Atlas

LPIN2

Phosphatidate phosphatase LPIN2

Also known as: KIAA0249, LPIN2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q92539
Gene: LPIN2
Ensembl: ENSG00000101577
Chromosome: 18
Canonical length: 896 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Plasma membrane,Actin filaments,Cytosol

OverviewNCBI 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, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

896 residues, UniProt reviewed canonical sequence.

>Q92539|LPIN2
     1  MNYVGQLAGQ VIVTVKELYK GINQATLSGC IDVIVVQQQD GSYQCSPFHV RFGKLGVLRS
    61  KEKVIDIEIN GSAVDLHMKL GDNGEAFFVE ETEEEYEKLP AYLATSPIPT EDQFFKDIDT
   121  PLVKSGGDET PSQSSDISHV LETETIFTPS SVKKKKRRRK KYKQDSKKEE QAASAAAEDT
   181  CDVGVSSDDD KGAQAARGSS NASLKEEECK EPLLFHSGDH YPLSDGDWSP LETTYPQTAC
   241  PKSDSELEVK PAESLLRSES HMEWTWGGFP ESTKVSKRER SDHHPRTATI TPSENTHFRV
   301  IPSEDNLISE VEKDASMEDT VCTIVKPKPR ALGTQMSDPT SVAELLEPPL ESTQISSMLD
   361  ADHLPNAALA EAPSESKPAA KVDSPSKKKG VHKRSQHQGP DDIYLDDLKG LEPEVAALYF
   421  PKSESEPGSR QWPESDTLSG SQSPQSVGSA AADSGTECLS DSAMDLPDVT LSLCGGLSEN
   481  GEISKEKFME HIITYHEFAE NPGLIDNPNL VIRIYNRYYN WALAAPMILS LQVFQKSLPK
   541  ATVESWVKDK MPKKSGRWWF WRKRESMTKQ LPESKEGKSE APPASDLPSS SKEPAGARPA
   601  ENDSSSDEGS QELEESITVD PIPTEPLSHG STTSYKKSLR LSSDQIAKLK LHDGPNDVVF
   661  SITTQYQGTC RCAGTIYLWN WNDKIIISDI DGTITKSDAL GQILPQLGKD WTHQGIAKLY
   721  HSINENGYKF LYCSARAIGM ADMTRGYLHW VNDKGTILPR GPLMLSPSSL FSAFHREVIE
   781  KKPEKFKIEC LNDIKNLFAP SKQPFYAAFG NRPNDVYAYT QVGVPDCRIF TVNPKGELIQ
   841  ERTKGNKSSY HRLSELVEHV FPLLSKEQNS AFPCPEFSSF CYWRDPIPEV DLDDLS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LPIN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.48
Highest tissue expression: 141 nTPM

Expression across tissuesHPA

Tissue

liver: 141 nTPM
duodenum: 58 nTPM
small intestine: 38 nTPM
stomach: 27 nTPM
kidney: 25 nTPM
gallbladder: 23 nTPM

Single-cell type

foveolar cells: 385 nCPM
microglia: 334 nCPM
neutrophils: 329 nCPM
endometrial luminal cells: 304 nCPM
epicardial cells: 298 nCPM
transitional alveolar cells: 274 nCPM

Immune cell

neutrophil: 32 nTPM
basophil: 13 nTPM
NK-cell: 13 nTPM
MAIT T-cell: 12 nTPM
gdT-cell: 12 nTPM
eosinophil: 10 nTPM

Brain region

hypothalamus: 74 nTPM
pons: 60 nTPM
midbrain: 60 nTPM
medulla oblongata: 53 nTPM
basal ganglia: 53 nTPM
thalamus: 51 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LPIN2.

Disease | AllUniProt

Conditions LPIN2 is implicated in, by any mechanism.

Majeed syndrome (MJDS) MIM:609628

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 1,026 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Majeed syndrome
Autoinflammatory syndrome
LPIN2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.51
gnomAD pLI: 0
gnomAD missense Z: 0.98
DepMap mean gene effect: 0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LPIN2 as an antibody target. Whether an autoantibody or antibody against LPIN2 could matter depends on whether native LPIN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LPIN2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label LPIN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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