SP6

Chr 17q21.32

Sp6 transcription factor

Aliases:: KLF14, Epfn
MANE:: ENST00000536300.2

OMIM: 608613 ↗NCBI: 80320 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SP6 · Q3SY56

v62025-08-01

Predicted Aligned Error matrix for SP6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

52.0/ 100

Low

376 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)20%
Low(50–70)16%
Very low(< 50)64%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amelogenesis imperfecta
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

amelogenesis imperfecta, IIa 1K
0.61
amelogenesis imperfecta
0.46
Hypoplastic amelogenesis imperfecta
0.39
hair color
0.39
atrial fibrillation
0.20
eye disorder
0.15
pulmonary embolism
0.11
tooth agenesis
0.08
trichothiodystrophy
0.08
neoplasm
0.08

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

Protein function (UniProt)

Transcription factor Sp6

Promotes cell proliferation (By similarity). Plays a role in tooth germ growth (By similarity). Plays a role in the control of enamel mineralization. Binds the AMBN promoter (PubMed:32167558)