Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	100131390
Gene name	Sp9 transcription factor
Gene symbol	SP9
Synonyms (NCBI Gene)	ZNF990
Chromosome	2
Chromosome location	2q31.1

Show/Hide all (34)

miRTarBase ID	miRNA	Experiments	Reference
MIRT653216	hsa-miR-548av-3p	HITS-CLIP	23824327
MIRT653214	hsa-miR-548g-3p	HITS-CLIP	23824327
MIRT653213	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT653212	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT653211	hsa-miR-4469	HITS-CLIP	23824327
MIRT653210	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT653209	hsa-miR-4287	HITS-CLIP	23824327
MIRT653208	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT653207	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT653206	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT653205	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT653204	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT653203	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT653202	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT653201	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT653199	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT653200	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT653216	hsa-miR-548av-3p	HITS-CLIP	23824327
MIRT653214	hsa-miR-548g-3p	HITS-CLIP	23824327
MIRT653213	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT653212	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT653211	hsa-miR-4469	HITS-CLIP	23824327
MIRT653210	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT653209	hsa-miR-4287	HITS-CLIP	23824327
MIRT653208	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT653207	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT653206	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT653205	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT653204	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT653203	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT653202	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT653201	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT653199	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT653200	hsa-miR-629-3p	HITS-CLIP	23824327

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
621003	30690	ENSG00000217236

P0CG40

Protein name

Transcription factor Sp9

Protein function

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).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	332 → 356	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	362 → 386	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	392 → 414	Zinc finger, C2H2 type	Domain

Sequence

MATSILGEEPRFGTTPLAMLAATCNKIGNTSPLTTLPESSAFAKGGFHPWKRSSSSCNLG
SSLSGFAVATGGRGSGGLAGGSGAANSAFCLASTSPTSSAFSSDYGGLFSNSAAAAAAAA
GVSPQEAGGQSAFISKVHTTAADGLYPRVGMAHPYESWYKSGFHSTLAAGEVTNGAASSW
WDVHSSPGSWLEVQNPAGGLQSSLHSGAPQASLHSQLGTYNPDFSSLTHSAFSSTGLGSS
AAAASHLLSTSQHLLAQDGFKPVLPSYSDSSAAVAAAAASAMISGAAAAAAGGSSARSAR
RYSGRATCDCPNCQEAERLGPAGASLRRKGLHSCHIPGCGKVYGKTSHLKAHLRWHTGER
PFVCNWLFCGKRFTRSDELQRHLRTHTGEKRFACPVCNKRFMRSDHLSKHIKTHNGGGGG
KKGSDSDTDASNLETPRSESPDLILHDSGVSAARAAAAAAAAAAAAAAAASAGGKEAASG
PNDS

Sequence length

484

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal caudate nucleus morphology	Likely pathogenic	rs2105510219	RCV002051753	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior	Pathogenic	rs2105510265	RCV002051756	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EEG abnormality	Pathogenic	rs2105510219	RCV002051754	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2105510219	RCV002051753 RCV002051754	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia	Pathogenic	rs2105510219	RCV002051754	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2105510219, rs2105510265	RCV002051753 RCV002051754 RCV002051756	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SP9-associated disorder	Pathogenic	rs2105510219	RCV003493869	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COMPLEX NEURODEVELOPMENTAL DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALAAM SEIZURES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorder	Autism	Pubtator	38288683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	38288683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	38288683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	38288683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	38288683	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	Pubtator	33372728	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SP9 (Sp9 transcription factor)