SP7

Chr 12q13.13

Sp7 transcription factor

Aliases:: osterix, OSX
MANE:: ENST00000536324.4

OMIM: 606633 ↗NCBI: 121340 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SP7 · Q8TDD2

v62025-08-01

Predicted Aligned Error matrix for SP7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

51.8/ 100

Low

431 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)19%
Low(50–70)17%
Very low(< 50)65%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

osteogenesis imperfecta
0.56
skeletal dysplasia
0.37
craniodiaphyseal dysplasia
0.37
osteogenesis imperfecta type 4
0.37
osteogenesis imperfecta, recessive
0.37
osteoporosis
0.25
hypospadias
0.19
bone disorder
0.18
atrial fibrillation
0.12
obesity disorder
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor Sp7

Transcriptional activator essential for osteoblast differentiation (PubMed:23457570). Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity)