SP8 (Sp8 transcription factor)

Gene

• Entrez ID: 221833
• Gene name: Sp8 transcription factor
• Gene symbol: SP8
• Synonyms (NCBI Gene): BTD
• Chromosome: 7
• Chromosome location: 7p21.1
• Summary: The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 201

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT444751	hsa-miR-4453	PAR-CLIP	22100165
MIRT444750	hsa-miR-4538	PAR-CLIP	22100165
MIRT444749	hsa-miR-208a-5p	PAR-CLIP	22100165
MIRT444748	hsa-miR-208b-5p	PAR-CLIP	22100165
MIRT444747	hsa-miR-6790-3p	PAR-CLIP	22100165
MIRT444746	hsa-miR-6821-3p	PAR-CLIP	22100165
MIRT444745	hsa-miR-3140-3p	PAR-CLIP	22100165
MIRT444743	hsa-miR-5579-3p	PAR-CLIP	22100165
MIRT444744	hsa-miR-192-5p	PAR-CLIP	22100165
MIRT444742	hsa-miR-215-5p	PAR-CLIP	22100165
MIRT444751	hsa-miR-4453	PAR-CLIP	22100165
MIRT444750	hsa-miR-4538	PAR-CLIP	22100165
MIRT444749	hsa-miR-208a-5p	PAR-CLIP	22100165
MIRT444748	hsa-miR-208b-5p	PAR-CLIP	22100165
MIRT444747	hsa-miR-6790-3p	PAR-CLIP	22100165
MIRT444746	hsa-miR-6821-3p	PAR-CLIP	22100165
MIRT444745	hsa-miR-3140-3p	PAR-CLIP	22100165
MIRT444743	hsa-miR-5579-3p	PAR-CLIP	22100165
MIRT444744	hsa-miR-192-5p	PAR-CLIP	22100165
MIRT444742	hsa-miR-215-5p	PAR-CLIP	22100165
MIRT444751	hsa-miR-4453	PAR-CLIP	22100165
MIRT444750	hsa-miR-4538	PAR-CLIP	22100165
MIRT444749	hsa-miR-208a-5p	PAR-CLIP	22100165
MIRT444748	hsa-miR-208b-5p	PAR-CLIP	22100165
MIRT444747	hsa-miR-6790-3p	PAR-CLIP	22100165
MIRT444746	hsa-miR-6821-3p	PAR-CLIP	22100165
MIRT444745	hsa-miR-3140-3p	PAR-CLIP	22100165
MIRT444743	hsa-miR-5579-3p	PAR-CLIP	22100165
MIRT444744	hsa-miR-192-5p	PAR-CLIP	22100165
MIRT444742	hsa-miR-215-5p	PAR-CLIP	22100165
MIRT444751	hsa-miR-4453	PAR-CLIP	22100165
MIRT444750	hsa-miR-4538	PAR-CLIP	22100165
MIRT444749	hsa-miR-208a-5p	PAR-CLIP	22100165
MIRT444748	hsa-miR-208b-5p	PAR-CLIP	22100165
MIRT444747	hsa-miR-6790-3p	PAR-CLIP	22100165
MIRT444746	hsa-miR-6821-3p	PAR-CLIP	22100165
MIRT444745	hsa-miR-3140-3p	PAR-CLIP	22100165
MIRT444743	hsa-miR-5579-3p	PAR-CLIP	22100165
MIRT444744	hsa-miR-192-5p	PAR-CLIP	22100165
MIRT444742	hsa-miR-215-5p	PAR-CLIP	22100165
MIRT1381619	hsa-miR-1243	CLIP-seq
MIRT1381620	hsa-miR-1299	CLIP-seq
MIRT1381621	hsa-miR-136	CLIP-seq
MIRT1381622	hsa-miR-1976	CLIP-seq
MIRT1381623	hsa-miR-2277-3p	CLIP-seq
MIRT1381624	hsa-miR-3202	CLIP-seq
MIRT1381625	hsa-miR-3654	CLIP-seq
MIRT1381626	hsa-miR-3679-3p	CLIP-seq
MIRT1381627	hsa-miR-377	CLIP-seq
MIRT1381628	hsa-miR-4446-5p	CLIP-seq
MIRT1381629	hsa-miR-4533	CLIP-seq
MIRT1381630	hsa-miR-4694-3p	CLIP-seq
MIRT1381631	hsa-miR-4699-3p	CLIP-seq
MIRT1381632	hsa-miR-4707-3p	CLIP-seq
MIRT1381633	hsa-miR-4722-3p	CLIP-seq
MIRT1381634	hsa-miR-4747-3p	CLIP-seq
MIRT1381635	hsa-miR-4797-3p	CLIP-seq
MIRT1381636	hsa-miR-760	CLIP-seq
MIRT1381637	hsa-miR-875-3p	CLIP-seq
MIRT1381638	hsa-miR-885-5p	CLIP-seq
MIRT2337162	hsa-miR-520d-5p	CLIP-seq
MIRT2337163	hsa-miR-524-5p	CLIP-seq
MIRT2433372	hsa-miR-3127-3p	CLIP-seq
MIRT2337162	hsa-miR-520d-5p	CLIP-seq
MIRT2337163	hsa-miR-524-5p	CLIP-seq
MIRT2433372	hsa-miR-3127-3p	CLIP-seq
MIRT2337162	hsa-miR-520d-5p	CLIP-seq
MIRT2337163	hsa-miR-524-5p	CLIP-seq
MIRT2433372	hsa-miR-3127-3p	CLIP-seq
MIRT2337162	hsa-miR-520d-5p	CLIP-seq
MIRT2337163	hsa-miR-524-5p	CLIP-seq
MIRT2460332	hsa-miR-4275	CLIP-seq
MIRT2460333	hsa-miR-586	CLIP-seq

Gene ontology (GO)

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:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009954	Process	Proximal/distal pattern formation	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

Other IDs

• MIM: 608306
• HGNC: 19196
• e!Ensembl: ENSG00000164651

Protein

• UniProt ID: Q8IXZ3
• Protein name: Transcription factor Sp8 (Specificity protein 8)
• 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	356 → 380	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	386 → 410	Zinc finger, C2H2 type	Domain
  PF13894	zf-C2H2_4	416 → 439		Domain

• Sequence:

  MLAATCNKIGSPSPSPSSLSDSSSSFGKGFHPWKRSSSSSSASCNVVGSSLSSFGVSGAS
  RNGGSSSAAAAAAAAAAAAAALVSDSFSCGGSPGSSAFSLTSSSAAAAAAAAAAAASSSP
  FANDYSVFQAPGVSGGSGGGGGGGGGGSSAHSQDGSHQPVFISKVHTSVDGLQGIYPRVG
  MAHPYESWFKPSHPGLGAAGEVGSAGASSWWDVGAGWIDVQNPNSAAALPGSLHPAAGGL
  QTSLHSPLGGYNSDYSGLSHSAFSSGASSHLLSPAGQHLMDGFKPVLPGSYPDSAPSPLA
  GAGGSMLSAGPSAPLGGSPRSSARRYSGRATCDCPNCQEAERLGPAGASLRRKGLHSCHI
  PGCGKVYGKTSHLKAHLRWHTGERPFVCNWLFCGKRFTRSDELQRHLRTHTGEKRFACPV
  CNKRFMRSDHLSKHVKTHSGGGGGGGSAGSGSGGKKGSDTDSEHSAAGSPPCHSPELLQP
  PEPGHRNGLE

• Sequence length: 490

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ 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
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SP8-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	35032020	Associate	★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	GWASCAT_DG	28753643		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35887259	Inhibit	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	13680408		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	28498829	Associate	★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase Deficiency	CLINVAR_DG	10206677, 10394193, 10400129, 10801053, 10801060, 11313766, 11380987, 11668630, 11865279, 12227467, 12359137, 12618081, 14628140, 14707518, 15059618, 15060693, 15776412, 16435182, 17185019, 17382128, 18645204, 19728141, 19757147, 20083419, 20224900, 20539236, 20549359, 20556795, 20981092, 21228398, 21752405, 21907891, 22011816, 22106832, 22698809, 22975760, 22995991, 23481307, 23644139, 24516753, 24525934, 24797656, 24932929, 25087612, 25144890, 25174816, 25333069, 25423671, 25754625, 25967232, 26334177, 26361991, 26589311, 26810761, 27207447, 27329734, 27625817, 27629047, 27657684, 28498829, 28971021, 29353266, 29359854, 7550325, 8894703, 9099842, 9158148, 9232193, 9375914, 9396567, 9506660, 9654207		★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase Deficiency	UNIPROT_DG	10206677, 9099842, 9654207		★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase Deficiency	GENOMICS_ENGLAND_DG	10801053, 27604308, 9158148		★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase Deficiency	LHGDN	11668630, 12359137, 15776412		★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase Deficiency	BEFREE	12372635, 12618081, 14628140, 15060693, 15992688, 17092467, 18845537, 19728141, 19757147, 20556795, 22011816, 24797656, 25423671, 25754625, 25795614, 27845546, 28498829, 29353266, 29359854, 29995633, 8213911, 9158148		★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase deficiency	Pubtator	15060693, 33452876, 7509806	Inhibit	★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase Deficiency	CLINGEN_DG	15776412, 22698809, 23481307, 24630269, 29359854, 29995633, 30616616		★☆☆☆☆ Found in Text Mining only
Biotinidase deficiency	Biotinidase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase deficiency	Pubtator	25174816, 26400555, 27329734, 28498829, 29728376, 29995633, 30968642, 33452876, 35032020, 35099446, 35627187, 35805799, 36759144, 37895316, 39582447, 39688110	Associate	★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase deficiency	Pubtator	30968642	Stimulate	★☆☆☆☆ Found in Text Mining only
Biotinidase Deficiency	Biotinidase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	23967141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	23967141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	23967141	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	11924114	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20346108		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27378695	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	19137569	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29948739		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	28753643		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	11924114	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	11924114	Associate	★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11668630, 13680408, 17382128, 22241090, 22698809, 26577040, 26810761, 27014582, 27657684, 9654207		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	11924114	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	BEFREE	17994282		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	17994282, 20532819		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	17092467		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	37511514	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	17994282, 20532819		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	17994282		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease, type IX	Glycogen Storage Disease	BEFREE	17994282		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	34338422	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	32727382	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29948739		★☆☆☆☆ Found in Text Mining only
Holocarboxylase Synthetase Deficiency	Holocarboxylase Synthetase Deficiency	BEFREE	12633764, 18429047, 18845537, 20095979, 29307858		★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	21692842		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	30968642	Associate	★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	17092467		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	31638351		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	40294794	Inhibit	★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis	Keratoconjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21319141	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20346108		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20346108		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29359854		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	23967141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	23967141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic atrophy	Pubtator	11924114	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33319795	Associate	★☆☆☆☆ Found in Text Mining only
Perioral eczema	Perioral eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	25574825		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	29635173		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	23967141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	23967141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	23967141	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	28516283		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	LHGDN	18645204		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	22911723	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22911723	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40545963	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	17092467		★☆☆☆☆ Found in Text Mining only