Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9663 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Lipin 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
LPIN2 |
SynonymsGene synonyms aliases
|
CRMO1, MJDS |
ChromosomeChromosome number
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18 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
18p11.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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, hy |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs17555442 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
rs80338806 |
AT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs80338807 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs80338808 |
C>G |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
rs104895500 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
rs116643915 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant, 5 prime UTR variant |
rs140249737 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
rs150022314 |
A>C,G |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
rs200648652 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs201325845 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
rs318240736 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs746626720 |
A>-,AA,AAAAAAAA |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Intron variant |
rs750126005 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs756933588 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs876660982 |
->ACAC |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs916009547 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs1175109245 |
G>A,T |
Pathogenic |
Intron variant, missense variant, stop gained, coding sequence variant |
rs1598522408 |
GCTGTTCCTTGCCACCCACCTGAAGGATTGAGCTTACTTGG>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant, genic downstream transcript variant, intron variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q92539 |
Protein name |
Phosphatidate phosphatase LPIN2 (EC 3.1.3.4) (Lipin-2) |
Protein function |
Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the endoplasmic reticulum |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF04571 |
Lipin_N |
1 → 107 |
lipin, N-terminal conserved region |
Family |
PF16876 |
Lipin_mid |
469 → 561 |
Lipin/Ned1/Smp2 multi-domain protein middle domain |
Family |
PF08235 |
LNS2 |
637 → 862 |
LNS2 (Lipin/Ned1/Smp2) |
Domain |
|
Sequence |
|
Sequence length |
896 |
Interactions |
View interactions |