Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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

78 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

Transcription factor	Regulation	Reference
RUNX2	Unknown	18331818

34 Show/Hide all (34)

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	324 → 348	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	354 → 376	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	294 → 318	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

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Osteogenesis imperfecta type 12	Likely pathogenic; Pathogenic	rs745609349, rs137853893	RCV003326713 RCV002310593	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (15)
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIODIAPHYSEAL DYSPLASIA	—	Disgenet, Orphanet Disgenet, Orphanet	36436818	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOSPADIAS	—	GWAS catalog	31856834	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOGENESIS IMPERFECTA TYPE 4	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	21438135, 21438135	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE IV	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis Imperfecta, Recessive	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XII	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	34594039	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	35396580, 39753749	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SP7-related disorder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (39)
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	31140727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	LHGDN	18829486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	25354236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	22766796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	38008425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30450809, 40192943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	Pubtator	21078438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	27983534	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27582133	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	15003787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	31856834	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27559096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31784427	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	31611955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24443267	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15734992, 28586644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21212767, 23300848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	24339167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous dysplasia	Pubtator	21983933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	20579626, 21829228	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	29405385		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteogenesis imperfecta type 4	Osteogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	21438135		★★★★★ ★☆☆☆☆ Found in Text Mining only
OSTEOGENESIS IMPERFECTA, TYPE XII	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	29382611		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XII	Osteogenesis Imperfecta	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XII	Osteogenesis Imperfecta	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	19877060	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	26930606	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	15734992, 18838962, 23845465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	27419135	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
IFITM5	4	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis","Osteoporosis-pseudoglioma syndrome"]	[]	8	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","GWAS catalog (Osteogenesis imperfecta)","Disgenet (Osteogenesis imperfecta)","CTD (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","Orphanet (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
P3H1	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	8	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","GWAS catalog (Osteogenesis imperfecta)","Disgenet (Osteogenesis imperfecta)","CTD (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","Orphanet (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
PPIB	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	8	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","GWAS catalog (Osteogenesis imperfecta)","Disgenet (Osteogenesis imperfecta)","CTD (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","Orphanet (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
MESD	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	6	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","Orphanet (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
TMEM38B	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	7	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","CTD (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","Orphanet (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]

SP7 (Sp7 transcription factor)

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