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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	121340
Gene name	Sp7 transcription factor
Gene symbol	SP7
Synonyms (NCBI Gene)	OI11OI12OSXosterix
Chromosome	12
Chromosome location	12q13.13
Summary	This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This p

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SNP ID	Visualize variation	Clinical significance	Consequence
rs182820275	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1565789682	G>A	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (78)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004567	hsa-miR-135b-5p	qRT-PCR	19795981
MIRT006147	hsa-miR-637	Luciferase reporter assayqRT-PCRWestern blot	21880893
MIRT006147	hsa-miR-637	Luciferase reporter assayqRT-PCRWestern blot	21880893
MIRT006147	hsa-miR-637	Luciferase reporter assayqRT-PCRWestern blot	21880893
MIRT006147	hsa-miR-637	Luciferase reporter assayqRT-PCRWestern blot	21880893
MIRT006147	hsa-miR-637	Luciferase reporter assayqRT-PCRWestern blot	21880893
MIRT006147	hsa-miR-637	Luciferase reporter assayqRT-PCRWestern blot	21880893
MIRT025634	hsa-miR-7-5p	Microarray	17612493
MIRT437549	hsa-miR-31-5p	Luciferase reporter assayMicroarrayqRT-PCR	23827457
MIRT438643	hsa-miR-145-5p	Luciferase reporter assayqRT-PCRWestern blot	23886710
MIRT438643	hsa-miR-145-5p	Luciferase reporter assayqRT-PCRWestern blot	23886710
MIRT438643	hsa-miR-145-5p	Luciferase reporter assayqRT-PCRWestern blot	23886710
MIRT438643	hsa-miR-145-5p	Luciferase reporter assayqRT-PCRWestern blot	23886710
MIRT1381598	hsa-miR-2392	CLIP-seq
MIRT1381599	hsa-miR-3622b-5p	CLIP-seq
MIRT1381600	hsa-miR-3674	CLIP-seq
MIRT1381601	hsa-miR-4732-5p	CLIP-seq
MIRT1381602	hsa-miR-1270	CLIP-seq
MIRT1381603	hsa-miR-1273f	CLIP-seq
MIRT1381604	hsa-miR-143	CLIP-seq
MIRT1381605	hsa-miR-2861	CLIP-seq
MIRT1381606	hsa-miR-3689d	CLIP-seq
MIRT1381607	hsa-miR-4300	CLIP-seq
MIRT1381608	hsa-miR-4324	CLIP-seq
MIRT1381609	hsa-miR-4457	CLIP-seq
MIRT1381610	hsa-miR-4512	CLIP-seq
MIRT1381611	hsa-miR-4683	CLIP-seq
MIRT1381612	hsa-miR-4693-3p	CLIP-seq
MIRT1381613	hsa-miR-4708-5p	CLIP-seq
MIRT1381614	hsa-miR-4712-3p	CLIP-seq
MIRT1381615	hsa-miR-4728-5p	CLIP-seq
MIRT1381616	hsa-miR-4770	CLIP-seq
MIRT1381617	hsa-miR-620	CLIP-seq
MIRT1381618	hsa-miR-920	CLIP-seq
MIRT2114187	hsa-miR-3622a-5p	CLIP-seq
MIRT2114188	hsa-miR-4423-3p	CLIP-seq
MIRT2114189	hsa-miR-4797-5p	CLIP-seq
MIRT2114190	hsa-miR-136	CLIP-seq
MIRT2114187	hsa-miR-3622a-5p	CLIP-seq
MIRT2337146	hsa-miR-1184	CLIP-seq
MIRT2337147	hsa-miR-1205	CLIP-seq
MIRT2337148	hsa-miR-214	CLIP-seq
MIRT2337149	hsa-miR-3158-5p	CLIP-seq
MIRT2337150	hsa-miR-3194-3p	CLIP-seq
MIRT2337151	hsa-miR-34a	CLIP-seq
MIRT2337152	hsa-miR-34c-5p	CLIP-seq
MIRT2337153	hsa-miR-3619-5p	CLIP-seq
MIRT2114187	hsa-miR-3622a-5p	CLIP-seq
MIRT2337154	hsa-miR-3914	CLIP-seq
MIRT2337155	hsa-miR-3928	CLIP-seq
MIRT2114188	hsa-miR-4423-3p	CLIP-seq
MIRT2337156	hsa-miR-449a	CLIP-seq
MIRT2337157	hsa-miR-449b	CLIP-seq
MIRT2337158	hsa-miR-4717-5p	CLIP-seq
MIRT2337159	hsa-miR-4733-3p	CLIP-seq
MIRT2114189	hsa-miR-4797-5p	CLIP-seq
MIRT2337160	hsa-miR-761	CLIP-seq
MIRT2337161	hsa-miR-765	CLIP-seq
MIRT2394999	hsa-miR-4756-3p	CLIP-seq
MIRT2114189	hsa-miR-4797-5p	CLIP-seq
MIRT2630618	hsa-miR-125a-5p	CLIP-seq
MIRT2630619	hsa-miR-125b	CLIP-seq
MIRT2630620	hsa-miR-4292	CLIP-seq
MIRT2630621	hsa-miR-4319	CLIP-seq
MIRT2630622	hsa-miR-4725-5p	CLIP-seq
MIRT2630623	hsa-miR-4732-3p	CLIP-seq
MIRT2630624	hsa-miR-504	CLIP-seq
MIRT2630625	hsa-miR-615-5p	CLIP-seq
MIRT2630626	hsa-miR-670	CLIP-seq
MIRT2630618	hsa-miR-125a-5p	CLIP-seq
MIRT2630619	hsa-miR-125b	CLIP-seq
MIRT2630620	hsa-miR-4292	CLIP-seq
MIRT2630621	hsa-miR-4319	CLIP-seq
MIRT2630622	hsa-miR-4725-5p	CLIP-seq
MIRT2630623	hsa-miR-4732-3p	CLIP-seq
MIRT2630624	hsa-miR-504	CLIP-seq
MIRT2630625	hsa-miR-615-5p	CLIP-seq
MIRT2630626	hsa-miR-670	CLIP-seq

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Transcription factor	Regulation	Reference
RUNX2	Unknown	18331818

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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:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001649	Process	Osteoblast differentiation	IDA	18932205
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	ISS	11792318
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS	11792318
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	18471237
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	18471237
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS	11792318
GO:0008270	Function	Zinc ion binding	IEA
GO:0010467	Process	Gene expression	IEA
GO:0017151	Function	DEAD/H-box RNA helicase binding	IEA
GO:0017151	Function	DEAD/H-box RNA helicase binding	ISS	17303075
GO:0032868	Process	Response to insulin	IEA
GO:0034224	Process	Cellular response to zinc ion starvation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18932205
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060218	Process	Hematopoietic stem cell differentiation	IDA	18932205
GO:0071344	Process	Diphosphate metabolic process	IEA
GO:0071529	Process	Cementum mineralization	IEA
GO:2000738	Process	Positive regulation of stem cell differentiation	IDA	18932205

MIM	HGNC	e!Ensembl
606633	17321	ENSG00000170374

Q8TDD2

Protein name

Transcription factor Sp7 (Zinc finger protein osterix)

Protein function

Transcriptional activator essential for osteoblast differentiation (PubMed:23457570). Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	294 → 318	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	324 → 348	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	354 → 376	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Restricted to bone-derived cell. {ECO:0000269|PubMed:15474293}.

Sequence

MASSLLEEEVHYGSSPLAMLTAACSKFGGSSPLRDSTTLGKAGTKKPYSVGSDLSASKTM
GDAYPAPFTSTNGLLSPAGSPPAPTSGYANDYPPFSHSFPGPTGTQDPGLLVPKGHSSSD
CLPSVYTSLDMTHPYGSWYKAGIHAGISPGPGNTPTPWWDMHPGGNWLGGGQGQGDGLQG
TLPTGPAQPPLNPQLPTYPSDFAPLNPAPYPAPHLLQPGPQHVLPQDVYKPKAVGNSGQL
EGSGGAKPPRGASTGGSGGYGGSGAGRSSCDCPNCQELERLGAAAAGLRKKPIHSCHIPG
CGKVYGKASHLKAHLRWHTGERPFVCNWLFCGKRFTRSDELERHVRTHTREKKFTCLLCS
KRFTRSDHLSKHQRTHGEPGPGPPPSGPKELGEGRSTGEEEASQTPRPSASPATPEKAPG
GSPEQSNLLEI

Sequence length

431

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Osteogenesis imperfecta type 12	Likely pathogenic; Pathogenic	rs745609349, rs137853893	RCV003326713 RCV002310593

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Osteogenesis imperfecta	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs200582631, rs369792296, rs2136836404, rs1294471020, rs1250981237, rs561083858, rs113295055, rs116856142, rs201666834	RCV002276978 RCV002277016 RCV002277846 RCV002277847 RCV002277848 RCV002277850 RCV002277388 RCV002276858 RCV002276880
Osteogenesis Imperfecta, Recessive	Uncertain significance; Conflicting classifications of pathogenicity	rs552600157, rs886049660	RCV000386738 RCV000385768
SP7-related disorder	Likely benign	rs372588044, rs74695556, rs766518602, rs375712065, rs377134368	RCV003898480 RCV003919396 RCV003917228 RCV004757312 RCV004757334

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis	Inhibit	17183249
Adamantinoma	Associate	21983933
Aortic Valve Stenosis	Associate	31140727
Bone Diseases	Associate	25354236
Bone Neoplasms	Associate	22766796
Bone Resorption	Associate	38008425
Breast Neoplasms	Associate	30450809, 40192943
Chondroblastoma	Associate	21078438
Craniopharyngioma	Associate	27983534
Diabetes Mellitus Type 2	Inhibit	27582133
Fractures Bone	Stimulate	27982725
Gingival Diseases	Associate	31743516
Hamartoma	Associate	21909471
Hyperostosis corticalis deformans juvenilis	Associate	32298837
Hypospadias	Associate	31856834
Juvenile osteoporosis	Associate	21308775
Medullary Sponge Kidney	Associate	25615853
Multiple Myeloma	Associate	27559096
Multiple Myeloma	Inhibit	31784427
Myelodysplastic Syndromes	Inhibit	24443267
Neoplasm Metastasis	Inhibit	40192943
Neoplasms	Associate	30450809
Obesity	Associate	21212767, 23300848
Osteoarthritis Knee	Associate	24339167
Osteoblastoma	Associate	21078438
Osteofibrous Dysplasia	Associate	21983933
Osteogenesis Imperfecta	Associate	20579626, 21829228
Osteoma Osteoid	Associate	21078438, 38008425
Osteoporosis	Inhibit	19877060
Osteoporosis	Associate	26930606
Osteoporotic Fractures	Stimulate	36053959
Smooth Muscle Tumor	Associate	24586847
Vascular Calcification	Associate	27419135
Vascular Ring	Associate	27208800

SP7 (Sp7 transcription factor)