Home > Gene Browser > LPIN3

LPIN3

Synonyms
LIPN3L, SMP2, dJ620E11.2
External resources
Summary
The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
37
Likely pathogenic
1
VUS
4,928
Likely benign
551
Benign
0

Patient Phenotypes

Proportions of phenotypes among 38 patients carrying pathogenic or likely pathogenic variants on LPIN3 gene are displayed below. The following symptoms were found in patients with a variant in LPIN3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
52.6%
Abnormality of the nervous system
34.2%
Abnormality of the musculoskeletal system
15.8%
Growth abnormality
15.8%
Abnormality of head or neck
7.9%
Abnormality of metabolism homeostasis
7.9%
Abnormality of the cardiovascular system
7.9%
Abnormality of the genitourinary system
5.3%
Abnormality of the immune system
5.3%
Abnormality of blood and blood forming tissues
2.6%
Abnormality of prenatal development or birth
2.6%
Abnormality of the digestive system
2.6%
Abnormality of the endocrine system
2.6%
Abnormality of the integument
2.6%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.