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FIG4 phosphoinositide 5-phosphatase
Summary
- Gene Symbol
-
- FIG4
- Aliases
-
- ALS11
- CMT4J
- SAC3
- dJ249I4.1
- hSac3
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Amyotrophic lateral sclerosis
- Charcot-Marie-Tooth disease
- Disease variant
- Endosome
- Hydrolase
- Membrane
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q92562 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| pigmentation | ||
| myelin assembly | ||
| locomotory behavior | ||
| negative regulation of myelination | ||
| phosphatidylinositol-3-phosphate biosynthetic process |
GO Hierarchy
- pigmentation
biological process
metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| intracellular membrane-bounded organelle | ||
| lipid droplet | ||
| late endosome membrane |
|
|
| Golgi membrane |
|
|
| endosome membrane |
GO Hierarchy
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050453 | lissencephaly | |
| DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
| DOID:0050540 | Charcot-Marie-Tooth disease type 3 | |
| DOID:0050541 | Charcot-Marie-Tooth disease type 4 | |
| DOID:0050646 | distal arthrogryposis | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0050777 | Joubert syndrome | |
| DOID:0060193 | amyotrophic lateral sclerosis type 1 | |
| DOID:0060194 | amyotrophic lateral sclerosis type 2 | |
| DOID:0060196 | amyotrophic lateral sclerosis type 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000054 | Micropenis |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000162 | Glossoptosis |
| HP:0000174 | Abnormal palate morphology |
| HP:0000187 | Broad alveolar ridges |
| HP:0000188 | Short upper lip |
| Disease ID | Disease Name |
|---|---|
| ORPHA:208441 |
|
| OMIM:611228 |
|
| ORPHA:3472 |
|
| OMIM:612691 |
|
| ORPHA:803 |
|
| OMIM:216340 |
|
| OMIM:612577 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP012350
- Gene Name
- FIG4 phosphoinositide 5-phosphatase
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 172620 | WB:WBGene00007912 | ||
| 33658 | FB:FBgn0031611 | ||
| 103178248 | CALMI15067 | ||
| 102348173 | LATCH06012 | ||
| 102687200 | LEPOC01065 | ||
| 100329711 | ZFIN:ZDB-GENE-141113-1 | ||
| 100334605 | ZFIN:ZDB-GENE-130213-1 | ||
| 113571778 | ELEEL04202 | ||
| 105017468 | ESOLU53296 | ||
| 115177313 | SALTR25542 |
