FOSL2 Chromosome 2
FOS like 2, AP-1 transcription factor subunit
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What This Gene Does
The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"Basic leucine zipper proteins|Fos transcription factor family"
Locus Type
gene with protein product
Location
2p23.2
Ensembl
ENSG00000075426
Associated Conditions (2)
Neurodevelopmental disorder
Aplasia cutis-enamel dysplasia syndrome
Key Variants
RS2148100720
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2465329674
Likely pathogenic
Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome
Health Risk
RS2465329536
Pathogenic
Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome
Health Risk
RS2465329579
Pathogenic
Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome
Health Risk
RS2465329612
Pathogenic
Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome
Health Risk
RS2465329828
Pathogenic
Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2148100720 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2465329674 | Health Risk | Likely pathogenic | Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome |
| RS2465329536 | Health Risk | Pathogenic | Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome |
| RS2465329579 | Health Risk | Pathogenic | Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome |
| RS2465329612 | Health Risk | Pathogenic | Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome |
| RS2465329828 | Health Risk | Pathogenic | Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome |