SP7 Chromosome 12
Sp7 transcription factor
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What This Gene Does
This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Sp transcription factors"
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000170374
Associated Conditions (2)
Osteogenesis imperfecta type 12
Osteogenesis imperfecta
Key Variants
RS1461984773
Conflicting classifications of pathogenicity
Health Risk
RS182820275
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12
Health Risk
RS369792296
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS542641721
Conflicting classifications of pathogenicity
Health Risk
RS561083858
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS745609349
Likely pathogenic
Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12
Health Risk
RS137853893
Pathogenic
Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1461984773 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182820275 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12 |
| RS369792296 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS542641721 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS561083858 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS745609349 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12 |
| RS137853893 | Health Risk | Pathogenic | Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12 |