SP9 Chromosome 2

Sp9 transcription factor

3 variants 3 Health Risk

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What This Gene Does

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

"Zinc fingers C2H2-type|Sp transcription factors"

Locus Type

gene with protein product

Location

2q31.1

Ensembl

ENSG00000217236

Associated Conditions (8)

Abnormal caudate nucleus morphology

Epileptic encephalopathy

Intellectual disability

EEG abnormality

Hypotonia

SP9-associated disorder

Autistic behavior

6 conditions

Key Variants

RS2105510219

Pathogenic

Abnormal caudate nucleus morphology, Epileptic encephalopathy, Intellectual disability

Health Risk

RS2105510265

Pathogenic

Autistic behavior, Intellectual disability, Autistic behavior

Health Risk

RS2105510286

Pathogenic

6 conditions, 6 conditions

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS2105510219	Health Risk	Pathogenic	Abnormal caudate nucleus morphology, Epileptic encephalopathy, Intellectual disability
RS2105510265	Health Risk	Pathogenic	Autistic behavior, Intellectual disability, Autistic behavior
RS2105510286	Health Risk	Pathogenic	6 conditions, 6 conditions