SP9

Chr 2q31.1

Sp9 transcription factor

Aliases:: ZNF990
MANE:: ENST00000394967.3

OMIM: 621003 ↗NCBI: 100131390 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SP9 · P0CG40

v62025-08-01

Predicted Aligned Error matrix for SP9 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

48.3/ 100

Very low

484 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)19%
Low(50–70)12%
Very low(< 50)69%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Intellectual disability
0.46
Autistic behavior
0.42
complex neurodevelopmental disorder
0.42
Hypotonia
0.40
EEG abnormality
0.40
neurodevelopmental disorder
0.34
hypertensive disorder
0.34
Epileptic spasm
0.33
Convulsive status epilepticus
0.33
Epileptic encephalopathy
0.33

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

Protein function (UniProt)

Transcription factor Sp9

Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity)