FIG4 Chromosome 6
FIG4 phosphoinositide 5-phosphatase
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What This Gene Does
The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Phosphoinositide phosphatases
Locus Type
gene with protein product
Location
6q21
Ensembl
ENSG00000112367
Associated Conditions (21)
Amyotrophic lateral sclerosis type 11
Amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease type 4
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Charcot-Marie-Tooth disease type 4J
Inborn genetic diseases
FIG4-related disorder
Hepatocellular carcinoma
Charcot-Marie-Tooth disease
Malignant tumor of esophagus
Sarcoma
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Familial cancer of breast
Cerebral hypomyelination
See cases
Severe global developmental delay
Penile hypospadias
Micropenis
Abnormality of the skeletal system
+1 more conditions
Key Variants
RS121908290
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 11, Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 11
Health Risk
RS138048706
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Yunis-Varon syndrome
Health Risk
RS140055056
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J
Health Risk
RS141116831
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS142482745
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease
Health Risk
RS181012139
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, Inborn genetic diseases
Health Risk
RS190287033
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11
Health Risk
RS199522051
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
Health Risk
RS199891240
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
Health Risk
RS200257799
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4
Health Risk
RS200267243
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J
Health Risk
RS200778905
Conflicting classifications of pathogenicity
Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome
Health Risk
All Variants (142)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1775850515 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4J |
| RS1777239433 | Health Risk | Likely pathogenic | Cerebral hypomyelination, Cerebral hypomyelination |
| RS1777296419 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS1777909965 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1778167658 | Health Risk | Likely pathogenic | Severe global developmental delay, Penile hypospadias, Micropenis |
| RS2128386656 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2486126464 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 11, Amyotrophic lateral sclerosis type 11 |
| RS2486126620 | Health Risk | Likely pathogenic | Bilateral parasagittal parieto-occipital polymicrogyria, Bilateral parasagittal parieto-occipital polymicrogyria |
| RS2486132701 | Health Risk | Likely pathogenic | — |
| RS2486171406 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2486171827 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2486178697 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2486205632 | Health Risk | Likely pathogenic | — |
| RS747899855 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, FIG4-related disorder |
| RS753008987 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS754338522 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS756308787 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 11, Yunis-Varon syndrome, Amyotrophic lateral sclerosis type 11 |
| RS768011609 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS778949599 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4 |
| RS866895236 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS892360041 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS984638888 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1161553940 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1197741113 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J |
| RS1261940378 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1368013631 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 |
| RS1488999396 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS1490935299 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1554303800 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1562648373 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, Charcot-Marie-Tooth disease |
| RS1562685713 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J |
| RS1583695328 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4 |
| RS1774388527 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1776224762 | Health Risk | Pathogenic | — |
| RS1776393502 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 11, Amyotrophic lateral sclerosis type 11 |
| RS1777242231 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1777638564 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1777959239 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1778083045 | Health Risk | Pathogenic | — |
| RS1778129968 | Health Risk | Pathogenic | — |
| RS1778167481 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2128375200 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2128387076 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2128391439 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2128391901 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2128392205 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2128392620 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2128394568 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2128396856 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2128397285 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |