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PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]
PITPNM2 (Phosphatidylinositol Transfer Protein Membrane Associated 2) is a Protein Coding gene. Diseases associated with PITPNM2 include Retinal Degeneration. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and lipid binding. An important paralog of this gene is PITPNM1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IDA | 10022914 |
GO:0005548 | phospholipid transporter activity | IEA | -- |
GO:0008289 | lipid binding | IEA | -- |
GO:0008525 | phosphatidylcholine transporter activity | IBA | 21873635 |
GO:0008526 | phosphatidylinositol transporter activity | IDA | 10022914 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0012505 | endomembrane system | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0044297 | cell body | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis |
.01
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2 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
GO:0015914 | phospholipid transport | IEA | -- |
GO:0048015 | phosphatidylinositol-mediated signaling | IDA | 10022914 |
GO:0120009 | intermembrane lipid transfer | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
PC(18:1(9Z)e/2:0) |
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Phosphatidylcholines Group A |
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68737-67-7 |
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Phosphatidylcholines Group B |
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88542-95-4 |
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Phosphatidylinositol-3,4,5-trisphosphate |
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PI(16:0/16:0) |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PITPNM2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PITPNM2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PITPNM2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pitpnm2 30 |
|
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Mouse (Mus musculus) |
Mammalia | Pitpnm2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PITPNM2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PITPNM2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PITPNM2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PITPNM2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pitpnm2 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | LOC100333901 30 |
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PITPNM2 31 |
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OneToOne | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6601 30 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000033 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | rdgB 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | pitp-1 30 |
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SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs17884869 | - | p.Pro9Leu | |||
rs55813219 | - | p.Leu661Met |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv22n68 | CNV | loss | 17160897 |
esv2646329 | CNV | deletion | 19546169 |
nsv455732 | CNV | loss | 19166990 |
nsv476743 | CNV | novel sequence insertion | 20440878 |
nsv517200 | CNV | loss | 19592680 |
nsv560492 | CNV | loss | 21841781 |
nsv560493 | CNV | loss | 21841781 |
nsv560494 | CNV | loss | 21841781 |
nsv914 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinal degeneration |
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