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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
lipin 2
Summary
- Gene Symbol
-
- LPIN2
- Aliases
-
- KIAA0249
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Congenital dyserythropoietic anemia
- Cytoplasm
- Disease variant
- Endoplasmic reticulum
- Fatty acid metabolism
- Hydrolase
- Membrane
- Nucleus
- Phosphoprotein
- Reference proteome
- Transcription regulation
- Proteins
| UniProt | Protein Name |
|---|---|
| Q92539 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| triglyceride biosynthetic process | ||
| positive regulation of transcription by RNA polymerase II | ||
| fatty acid catabolic process | ||
| lipid metabolic process | ||
| cellular response to insulin stimulus |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of macromolecule metabolic process [inference]
positive regulation of biological process [inference]
regulation of cellular process [inference]
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| phosphatidate phosphatase activity | ||
| transcription coactivator activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0014667 | disease of metabolism | |
| DOID:0050452 | mevalonic aciduria | |
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0050590 | severe congenital neutropenia | |
| DOID:0050729 | Chanarin-Dorfman syndrome | |
| DOID:0060192 | Crohn's colitis | |
| DOID:0060444 | granular corneal dystrophy 2 | |
| DOID:0060645 | chronic recurrent multifocal osteomyelitis | |
| DOID:0060656 | autosomal recessive congenital ichthyosis 1 | |
| DOID:0080108 | myoglobinuria |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000093 | Proteinuria |
| HP:0000823 | Delayed puberty |
| HP:0000969 | Edema |
| HP:0000988 | Skin rash |
| HP:0001061 | Acne |
| HP:0001371 | Flexion contracture |
| HP:0001386 | Joint swelling |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001508 | Failure to thrive |
| Disease ID | Disease Name |
|---|---|
| OMIM:609628 |
|
| ORPHA:77297 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 179853 | WB:WBGene00010425 | ||
| 35790 | FB:FBgn0263593 | ||
| 103183457 | CALMI27546 | ||
| 102346820 | LATCH12262 | ||
| 558422 | ZFIN:ZDB-GENE-060503-153 | ||
| 103030941 | ASTMX11729 | ||
| 113580120 | ELEEL04634 | ||
| 115549506 | GADMO56500 | ||
| 101161835 | ORYLA07111 | ||
| 100711622 | ORENI27750 |
