PITPNM2 Gene - Phosphatidylinositol Transfer Protein Membrane Associated 2
A comprehensive resource on PITPNM2, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | PITPNM2 |
|---|---|
| Full Name | phosphatidylinositol transfer protein membrane associated 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | O00562 |
| OMIM ID | 191170 |
| HGNC ID | 9004 |
| Aliases | PITPNM2, PITPNM, PITPNM1, PITPNM2, PITPNM1, PITPNM2, PITPNM1, PITPNM2, PITPNM1, PITPNM2 |
Description
PITPNM2 (phosphatidylinositol transfer protein membrane associated 2) is a protein-coding gene. It encodes a member of the phosphatidylinositol transfer protein (PITP) family, which is involved in phospholipid metabolism and intracellular signaling. The encoded protein is membrane-associated and may play a role in vesicular trafficking and signal transduction. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia type 14 | Missense mutations in PITPNM2 are associated with autosomal dominant spinocerebellar ataxia type 14 (SCA14). The mechanism involves altered calcium signaling and protein kinase C activity due to impaired phosphatidylinositol transfer. | OMIM 191170; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.2 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| SH-SY5Y | 14.3 | Neuroblastoma cells |
| HeLa | 9.2 | Cervical cancer cells |
| HepG2 | 7.8 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | Rare | Associated with SCA14; alters protein function |
| c.155G>A (p.Arg52His) | Missense | Rare | Associated with SCA14; affects calcium signaling |
| c.227T>C (p.Leu76Pro) | Missense | Rare | Associated with SCA14; disrupts membrane association |
Mutation functional classification
Loss of Function (LOF)
Some missense mutations in PITPNM2 lead to reduced phosphatidylinositol transfer activity, impairing cellular signaling.
Gain of Function (GOF)
No evidence of gain-of-function mutations in PITPNM2.
Dominant Negative (DN)
Mutations associated with SCA14 are thought to act via a dominant-negative mechanism, interfering with normal protein function.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol transfer activity | • phospholipid binding |
| • membrane | • cytoplasm |
| • Golgi apparatus | • endoplasmic reticulum |
| • signal transduction | • vesicle-mediated transport |
Pathways
• Phosphatidylinositol signaling system
• Inositol phosphate metabolism
• Glycerophospholipid metabolism
Protein Summary
The PITPNM2 protein is a membrane-associated phosphatidylinositol transfer protein (PITP) that facilitates the transfer of phosphatidylinositol between membranes. It is involved in phospholipid metabolism, vesicular trafficking, and signal transduction. The protein contains a PITP domain and is localized to the Golgi apparatus and endoplasmic reticulum. Mutations in this gene are associated with spinocerebellar ataxia type 14 (SCA14).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PITPNM2 Knockout HEK293 Cell Line | EDJ-KQ14774 | Human | 57605 | Details Get a Quote |
| PITPNM2 Knockout A-549 Cell Line | EDJ-KQ45171 | Human | 57605 | Details Get a Quote |
| PITPNM2 Knockout HCT 116 Cell Line | EDJ-KQ45172 | Human | 57605 | Details Get a Quote |
| PITPNM2 Knockout HeLa Cell Line | EDJ-KQ45173 | Human | 57605 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
