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	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

Show/Hide all (73)

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

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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

MIM	HGNC	e!Ensembl
608306	19196	ENSG00000164651

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

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
SP8-related disorder	Uncertain significance; Likely benign; Benign	rs750352032, rs770823639, rs9769412, rs147160703, rs779330461, rs1342357082, rs911129324, rs763964198, rs369276986, rs902256887, rs115488866, rs770440092, rs148247510, rs780875050, rs1783636875 View all (9 more)	RCV003963792 RCV003908958 RCV003984369 RCV003906988 RCV003919591 RCV003919615 RCV003907312 RCV003909361 RCV003951905 RCV003961714 RCV003919498 RCV003931770 RCV003924542 RCV003941571 RCV003941702 RCV003934450 RCV003924314 RCV003924386 RCV003937170 RCV003932098 RCV003932100 RCV003932263 RCV003932283 RCV003947011 RCV003979299 RCV003983745 RCV003969475 RCV003930511

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bipolar Disorder	Associate	23967141
Cleft Lip	Associate	19137569
Glycosuria Renal	Associate	34338422
Parkinson Disease	Associate	33319795
Psychotic Disorders	Associate	23967141

SP8 (Sp8 transcription factor)