SAMD7 Chromosome 3
Sterile alpha motif domain containing 7
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What This Gene Does
Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; chromatin binding activity; and histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription; negative regulation of gene expression, epigenetic; and retinal rod cell development. Predicted to be located in cytoplasm. Predicted to be part of PRC1 complex. Predicted to be active in nucleus. Implicated in macular degeneration. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Sterile alpha motif domain containing
Locus Type
gene with protein product
Location
3q26.2
Ensembl
ENSG00000187033
Associated Conditions (2)
MACULAR DYSTROPHY WITH CONE DYSFUNCTION
Macular dystrophy with or without cone dysfunction
Key Variants
RS1713305306
Pathogenic
MACULAR DYSTROPHY WITH CONE DYSFUNCTION, MACULAR DYSTROPHY WITH CONE DYSFUNCTION
Health Risk
RS2473470274
Pathogenic
Macular dystrophy with or without cone dysfunction, Macular dystrophy with or without cone dysfunction
Health Risk
RS2473480338
Pathogenic
MACULAR DYSTROPHY WITH CONE DYSFUNCTION, MACULAR DYSTROPHY WITH CONE DYSFUNCTION
Health Risk
RS372640496
Pathogenic
MACULAR DYSTROPHY WITH CONE DYSFUNCTION, MACULAR DYSTROPHY WITH CONE DYSFUNCTION
Health Risk
RS746879032
Pathogenic
Macular dystrophy with or without cone dysfunction, Macular dystrophy with or without cone dysfunction
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1713305306 | Health Risk | Pathogenic | MACULAR DYSTROPHY WITH CONE DYSFUNCTION, MACULAR DYSTROPHY WITH CONE DYSFUNCTION |
| RS2473470274 | Health Risk | Pathogenic | Macular dystrophy with or without cone dysfunction, Macular dystrophy with or without cone dysfunction |
| RS2473480338 | Health Risk | Pathogenic | MACULAR DYSTROPHY WITH CONE DYSFUNCTION, MACULAR DYSTROPHY WITH CONE DYSFUNCTION |
| RS372640496 | Health Risk | Pathogenic | MACULAR DYSTROPHY WITH CONE DYSFUNCTION, MACULAR DYSTROPHY WITH CONE DYSFUNCTION |
| RS746879032 | Health Risk | Pathogenic | Macular dystrophy with or without cone dysfunction, Macular dystrophy with or without cone dysfunction |