FMN2 Chromosome 1
Formin 2
Upload your DNA to see your personal genotypes for variants in FMN2.
What This Gene Does
This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Formins|DEP domain containing"
Locus Type
gene with protein product
Location
1q43
Ensembl
ENSG00000155816
Associated Conditions (6)
FMN2-related disorder
Intellectual disability
autosomal recessive 47
Inborn genetic diseases
Neurodevelopmental abnormality
Aganglionic megacolon
Key Variants
RS140315493
Conflicting classifications of pathogenicity
Health Risk
RS141335669
Conflicting classifications of pathogenicity
FMN2-related disorder, FMN2-related disorder
Health Risk
RS146681532
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 47, FMN2-related disorder
Health Risk
RS147961923
Conflicting classifications of pathogenicity
Inborn genetic diseases, FMN2-related disorder, Inborn genetic diseases
Health Risk
RS150801382
Conflicting classifications of pathogenicity
Neurodevelopmental abnormality, Intellectual disability, autosomal recessive 47
Health Risk
RS1558365026
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 47, Intellectual disability
Health Risk
RS1572736047
Conflicting classifications of pathogenicity
Aganglionic megacolon, Intellectual disability, autosomal recessive 47
Health Risk
RS193049501
Conflicting classifications of pathogenicity
Health Risk
RS199570117
Conflicting classifications of pathogenicity
Health Risk
RS199730080
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200975594
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 47, FMN2-related disorder
Health Risk
RS201538863
Conflicting classifications of pathogenicity
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140315493 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141335669 | Health Risk | Conflicting classifications of pathogenicity | FMN2-related disorder, FMN2-related disorder |
| RS146681532 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 47, FMN2-related disorder |
| RS147961923 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, FMN2-related disorder, Inborn genetic diseases |
| RS150801382 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental abnormality, Intellectual disability, autosomal recessive 47 |
| RS1558365026 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 47, Intellectual disability |
| RS1572736047 | Health Risk | Conflicting classifications of pathogenicity | Aganglionic megacolon, Intellectual disability, autosomal recessive 47 |
| RS193049501 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199570117 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199730080 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200975594 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 47, FMN2-related disorder |
| RS201538863 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS554313620 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 47, Inborn genetic diseases |
| RS563570840 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749567608 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755551398 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 47, Intellectual disability |
| RS1340240686 | Health Risk | Likely pathogenic | — |
| RS1393310059 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 47, Intellectual disability |
| RS1426355851 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 47, Intellectual disability |
| RS1445709911 | Health Risk | Likely pathogenic | — |
| RS375865107 | Health Risk | Likely pathogenic | — |
| RS757511770 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 47, Intellectual disability |
| RS762281932 | Health Risk | Likely pathogenic | — |
| RS1247510585 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 47, Intellectual disability |
| RS2103013785 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2527036464 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 47, Intellectual disability |
| RS727502860 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 47, Intellectual disability |
| RS727502861 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 47, Intellectual disability |
| RS886041659 | Health Risk | Pathogenic | — |
| RS1390970926 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 47, Intellectual disability |