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	80320
Gene name	Sp6 transcription factor
Gene symbol	SP6
Synonyms (NCBI Gene)	AI1KEPFNEPIPROFINKLF14
Chromosome	17
Chromosome location	17q21.32
Summary	SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequenc

Show/Hide all (90)

miRTarBase ID	miRNA	Experiments
MIRT1381549	hsa-miR-1	CLIP-seq
MIRT1381550	hsa-miR-1207-5p	CLIP-seq
MIRT1381551	hsa-miR-1236	CLIP-seq
MIRT1381552	hsa-miR-1294	CLIP-seq
MIRT1381553	hsa-miR-1827	CLIP-seq
MIRT1381554	hsa-miR-183	CLIP-seq
MIRT1381555	hsa-miR-185	CLIP-seq
MIRT1381556	hsa-miR-186	CLIP-seq
MIRT1381557	hsa-miR-1909	CLIP-seq
MIRT1381558	hsa-miR-206	CLIP-seq
MIRT1381559	hsa-miR-2110	CLIP-seq
MIRT1381560	hsa-miR-27a	CLIP-seq
MIRT1381561	hsa-miR-27b	CLIP-seq
MIRT1381562	hsa-miR-298	CLIP-seq
MIRT1381563	hsa-miR-3133	CLIP-seq
MIRT1381564	hsa-miR-3153	CLIP-seq
MIRT1381565	hsa-miR-3155	CLIP-seq
MIRT1381566	hsa-miR-3155b	CLIP-seq
MIRT1381567	hsa-miR-3174	CLIP-seq
MIRT1381568	hsa-miR-3175	CLIP-seq
MIRT1381569	hsa-miR-3179	CLIP-seq
MIRT1381570	hsa-miR-3202	CLIP-seq
MIRT1381571	hsa-miR-3609	CLIP-seq
MIRT1381572	hsa-miR-361-3p	CLIP-seq
MIRT1381573	hsa-miR-3672	CLIP-seq
MIRT1381574	hsa-miR-3936	CLIP-seq
MIRT1381575	hsa-miR-3973	CLIP-seq
MIRT1381576	hsa-miR-4257	CLIP-seq
MIRT1381577	hsa-miR-4271	CLIP-seq
MIRT1381578	hsa-miR-4306	CLIP-seq
MIRT1381579	hsa-miR-4316	CLIP-seq
MIRT1381580	hsa-miR-4468	CLIP-seq
MIRT1381581	hsa-miR-4644	CLIP-seq
MIRT1381582	hsa-miR-4677-3p	CLIP-seq
MIRT1381583	hsa-miR-4688	CLIP-seq
MIRT1381584	hsa-miR-4725-3p	CLIP-seq
MIRT1381585	hsa-miR-4736	CLIP-seq
MIRT1381586	hsa-miR-4747-5p	CLIP-seq
MIRT1381587	hsa-miR-4763-3p	CLIP-seq
MIRT1381588	hsa-miR-4773	CLIP-seq
MIRT1381589	hsa-miR-484	CLIP-seq
MIRT1381590	hsa-miR-513a-5p	CLIP-seq
MIRT1381591	hsa-miR-520g	CLIP-seq
MIRT1381592	hsa-miR-520h	CLIP-seq
MIRT1381593	hsa-miR-548ah	CLIP-seq
MIRT1381594	hsa-miR-583	CLIP-seq
MIRT1381595	hsa-miR-613	CLIP-seq
MIRT1381596	hsa-miR-939	CLIP-seq
MIRT1381597	hsa-miR-940	CLIP-seq
MIRT2114185	hsa-miR-3064-5p	CLIP-seq
MIRT2114186	hsa-miR-4505	CLIP-seq
MIRT2337112	hsa-miR-1265	CLIP-seq
MIRT2337113	hsa-miR-1273f	CLIP-seq
MIRT2337114	hsa-miR-143	CLIP-seq
MIRT2337115	hsa-miR-1470	CLIP-seq
MIRT2337116	hsa-miR-2392	CLIP-seq
MIRT2337117	hsa-miR-3148	CLIP-seq
MIRT2337118	hsa-miR-3184	CLIP-seq
MIRT2337119	hsa-miR-331-3p	CLIP-seq
MIRT2337120	hsa-miR-3652	CLIP-seq
MIRT2337121	hsa-miR-3689a-3p	CLIP-seq
MIRT2337122	hsa-miR-3689c	CLIP-seq
MIRT2337123	hsa-miR-378g	CLIP-seq
MIRT2337124	hsa-miR-423-5p	CLIP-seq
MIRT2337125	hsa-miR-4252	CLIP-seq
MIRT2337126	hsa-miR-4287	CLIP-seq
MIRT2337127	hsa-miR-4430	CLIP-seq
MIRT2337128	hsa-miR-4435	CLIP-seq
MIRT2337129	hsa-miR-4437	CLIP-seq
MIRT2337130	hsa-miR-4469	CLIP-seq
MIRT2114186	hsa-miR-4505	CLIP-seq
MIRT2337131	hsa-miR-4645-5p	CLIP-seq
MIRT2337132	hsa-miR-4673	CLIP-seq
MIRT2337133	hsa-miR-4674	CLIP-seq
MIRT1381582	hsa-miR-4677-3p	CLIP-seq
MIRT2337134	hsa-miR-4685-3p	CLIP-seq
MIRT2337135	hsa-miR-4701-5p	CLIP-seq
MIRT2337136	hsa-miR-4708-5p	CLIP-seq
MIRT2337137	hsa-miR-4716-3p	CLIP-seq
MIRT2337138	hsa-miR-4722-3p	CLIP-seq
MIRT2337139	hsa-miR-4742-5p	CLIP-seq
MIRT2337140	hsa-miR-4755-3p	CLIP-seq
MIRT2337141	hsa-miR-4770	CLIP-seq
MIRT2337142	hsa-miR-588	CLIP-seq
MIRT2337143	hsa-miR-651	CLIP-seq
MIRT2337144	hsa-miR-766	CLIP-seq
MIRT2337145	hsa-miR-875-3p	CLIP-seq
MIRT2394996	hsa-miR-1226	CLIP-seq
MIRT2394997	hsa-miR-1324	CLIP-seq
MIRT2394998	hsa-miR-4691-3p	CLIP-seq

Show/Hide all (14)

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:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0042476	Process	Odontogenesis	IEA
GO:0042481	Process	Regulation of odontogenesis	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
608613	14530	ENSG00000189120

Q3SY56

Protein name

Transcription factor Sp6 (Krueppel-like factor 14)

Protein function

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). {ECO:0000250|UniProtKB:Q9ESX2, ECO:0000269|PubMed:32

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	254 → 278	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	284 → 308	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	314 → 336	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MLTAVCGSLGSQHTEAPHASPPRLDLQPLQTYQGHTSPEAGDYPSPLQPGELQSLPLGPE
VDFSQGYELPGASSRVTCEDLESDSPLAPGPFSKLLQPDMSHHYESWFRPTHPGAEDGSW
WDLHPGTSWMDLPHTQGALTSPGHPGALQAGLGGYVGDHQLCAPPPHPHAHHLLPAAGGQ
HLLGPPDGAKALEVAAPESQGLDSSLDGAARPKGSRRSVPRSSGQTVCRCPNCLEAERLG
APCGPDGGKKKHLHNCHIPGCGKAYAKTSHLKAHLRWHSGDRPFVCNWLFCGKRFTRSDE
LQRHLQTHTGTKKFPCAVCSRVFMRSDHLAKHMKTHEGAKEEAAGAASGEGKAGGAVEPP
GGKGKREAEGSVAPSN

Sequence length

376

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amelogenesis imperfecta	Pathogenic	rs2143647637	RCV001579315	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta, IIa 1K	Pathogenic	rs2143647637	RCV003329443 RCV003329399	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA LOCAL HYPOPLASTIC FORM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IK	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	28480579	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta	Associate	32167558, 33652941	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta local hypoplastic form	Associate	32167558, 33652941	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis Cutis	Associate	23199169	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Associate	28480579	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disease	Associate	32167558	★★★★★ ★☆☆☆☆ Found in Text Mining only
Personality Disorders	Associate	34012061	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	34012061	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Associate	28480579	★★★★★ ★☆☆☆☆ Found in Text Mining only

SP6 (Sp6 transcription factor)