SP9
Transcription factor Sp9
Also known as: SP9_HUMAN, ZNF990
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P0CG40
- Gene
- SP9
- Ensembl
- ENSG00000217236
- Chromosome
- 2
- Canonical length
- 484 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Mitochondria
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
484 residues, UniProt reviewed canonical sequence.
>P0CG40|SP9
1 MATSILGEEP RFGTTPLAML AATCNKIGNT SPLTTLPESS AFAKGGFHPW KRSSSSCNLG
61 SSLSGFAVAT GGRGSGGLAG GSGAANSAFC LASTSPTSSA FSSDYGGLFS NSAAAAAAAA
121 GVSPQEAGGQ SAFISKVHTT AADGLYPRVG MAHPYESWYK SGFHSTLAAG EVTNGAASSW
181 WDVHSSPGSW LEVQNPAGGL QSSLHSGAPQ ASLHSQLGTY NPDFSSLTHS AFSSTGLGSS
241 AAAASHLLST SQHLLAQDGF KPVLPSYSDS SAAVAAAAAS AMISGAAAAA AGGSSARSAR
301 RYSGRATCDC PNCQEAERLG PAGASLRRKG LHSCHIPGCG KVYGKTSHLK AHLRWHTGER
361 PFVCNWLFCG KRFTRSDELQ RHLRTHTGEK RFACPVCNKR FMRSDHLSKH IKTHNGGGGG
421 KKGSDSDTDA SNLETPRSES PDLILHDSGV SAARAAAAAA AAAAAAAAAA SAGGKEAASG
481 PNDSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SP9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 3.9 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 3.9 nTPM
- cerebral cortex: 3.3 nTPM
- amygdala: 2.4 nTPM
- fallopian tube: 1.7 nTPM
- hypothalamus: 1.3 nTPM
- hippocampal formation: 1.1 nTPM
Single-cell type
- brain inhibitory neurons: 6.4 nCPM
- respiratory ionocytes: 5.1 nCPM
- other brain neurons: 2.5 nCPM
- fibroblasts: 1.4 nCPM
- gastric progenitor cells: 1.3 nCPM
- vascular smooth muscle cells: 0.7 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- basal ganglia: 8.2 nTPM
- cerebral cortex: 7.5 nTPM
- amygdala: 7.2 nTPM
- hypothalamus: 6.1 nTPM
- white matter: 3.2 nTPM
- thalamus: 3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SP9.
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 70 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual disability
- Epileptic encephalopathy
- Abnormal caudate nucleus morphology
- EEG abnormality
- Hypotonia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.34
- gnomAD pLI
- 0.94
- gnomAD missense Z
- 2.26
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SP9 as an antibody target. Whether an autoantibody or antibody against SP9 could matter depends on whether native SP9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SP9 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SP9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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