Entity Details
Primary name |
LPIN2_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q92539 |
EntryName | LPIN2_HUMAN |
FullName | Phosphatidate phosphatase LPIN2 |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 896 |
SequenceStatus | complete |
DateCreated | 1997-11-01 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Cytoplasm |
Endoplasmic reticulum membrane |
Nucleus |
Domains
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Domain | Name | Category | Type |
IPR007651 | Lipin, N-terminal | Domain | Domain |
IPR013209 | Lipin/Ned1/Smp2 (LNS2) | Domain | Domain |
IPR026058 | LIPIN family | Family | Family |
IPR031315 | LNS2/PITP | Domain | Domain |
IPR031703 | Lipin, middle domain | Domain | Domain |
IPR036412 | HAD-like superfamily | Family | Homologous superfamily |
Diseases
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Disease ID | Source | Name | Description |
609628 | OMIM | Majeed syndrome (MJDS) | An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration). The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction