Human Gene SP7 (ENST00000536324.4_10) from GENCODE V47lift37

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Description: Sp7 transcription factor, transcript variant 1 (from RefSeq NM_001173467.3)
Gencode Transcript: ENST00000536324.4_10
Gencode Gene: ENSG00000170374.6_14
Transcript (Including UTRs)
Position: hg19 chr12:53,720,359-53,730,138 Size: 9,780 Total Exon Count: 3 Strand: -
Coding Region
Position: hg19 chr12:53,721,930-53,729,430 Size: 7,501 Coding Exon Count: 2

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr12:53,720,359-53,730,138)			mRNA (may differ from genome)		Protein (431 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: SP7_HUMAN DESCRIPTION: RecName: Full=Transcription factor Sp7; AltName: Full=Zinc finger protein osterix; FUNCTION: Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity). SUBUNIT: Interacts with NO66/C14orf169; the interaction is direct and inhibits transcription activator activity (By similarity). SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Restricted to bone-derived cell. DISEASE: Defects in SP7 are the cause of osteogenesis imperfecta type 11 (OI11) [MIM:613849]. A connective tissue disorder characterized by bone fragility, low bone mass, recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae. SIMILARITY: Belongs to the Sp1 C2H2-type zinc-finger protein family. SIMILARITY: Contains 3 C2H2-type zinc fingers.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: SP7 Diseases sorted by gene-association score: osteogenesis imperfecta, type xii* (1050), sp7-related osteogenesis imperfecta* (200), osteogenesis imperfecta, type iv* (143), sclerosteosis 1 (11), osteogenesis imperfecta (9), ankylosis (7), craniometaphyseal dysplasia (7), osteogenesis imperfecta, type v (7), osteochondrodysplasia (6), craniopharyngioma (6), bone resorption disease (5), pfeiffer syndrome (5), bone remodeling disease (4), osteoporosis (2), osteosarcoma, somatic (2) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene C059514 resveratrol C119129 18alpha-glycyrrhetinic acid C093973 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one D000537 Aluminum Oxide D000643 Ammonium Chloride D001205 Ascorbic Acid D001374 Azacitidine D002104 Cadmium D003676 Deferoxamine D003907 Dexamethasone more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 0.72 RPKM in Testis Total median expression: 2.69 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-104.00	256	-0.406	Picture	PostScript	Text
3' UTR	-511.50	1571	-0.326	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

SCOP Domains:
57667 - beta-beta-alpha zinc fingers

ModBase Predicted Comparative 3D Structure on Q8TDD2


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0017151 DEAD/H-box RNA helicase binding GO:0046872 metal ion binding Biological Process: GO:0001649 osteoblast differentiation GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0060218 hematopoietic stem cell differentiation GO:2000738 positive regulation of stem cell differentiation Cellular Component: GO:0005634 nucleus GO:0005737 cytoplasm

Descriptions from all associated GenBank mRNAs


	AF477981 - Homo sapiens osterix mRNA, complete cds. AK128520 - Homo sapiens cDNA FLJ46678 fis, clone TRACH3010167, highly similar to Transcription factor Sp7 (Zinc finger protein osterix). AF466179 - Homo sapiens osterix/sp7 mRNA, complete cds. AY150673 - Homo sapiens specificity protein 7 mRNA, complete cds; alternatively spliced. JD284162 - Sequence 265186 from Patent EP1572962. JD078142 - Sequence 59166 from Patent EP1572962. JD256080 - Sequence 237104 from Patent EP1572962. JD327680 - Sequence 308704 from Patent EP1572962. JD221857 - Sequence 202881 from Patent EP1572962. JD546259 - Sequence 527283 from Patent EP1572962. JD440108 - Sequence 421132 from Patent EP1572962. JD192574 - Sequence 173598 from Patent EP1572962. JD310167 - Sequence 291191 from Patent EP1572962. JD294521 - Sequence 275545 from Patent EP1572962. JD442408 - Sequence 423432 from Patent EP1572962. JD376656 - Sequence 357680 from Patent EP1572962. JD172045 - Sequence 153069 from Patent EP1572962. JD447934 - Sequence 428958 from Patent EP1572962. JD485421 - Sequence 466445 from Patent EP1572962. JD049238 - Sequence 30262 from Patent EP1572962. JD168490 - Sequence 149514 from Patent EP1572962. JD072469 - Sequence 53493 from Patent EP1572962. JD080927 - Sequence 61951 from Patent EP1572962. JD219508 - Sequence 200532 from Patent EP1572962. JD155135 - Sequence 136159 from Patent EP1572962. JD092792 - Sequence 73816 from Patent EP1572962. JD528350 - Sequence 509374 from Patent EP1572962. JD515834 - Sequence 496858 from Patent EP1572962. JD414340 - Sequence 395364 from Patent EP1572962. JD131716 - Sequence 112740 from Patent EP1572962. JD519333 - Sequence 500357 from Patent EP1572962. JD555810 - Sequence 536834 from Patent EP1572962. JD093914 - Sequence 74938 from Patent EP1572962. JD524265 - Sequence 505289 from Patent EP1572962. JD152633 - Sequence 133657 from Patent EP1572962. JD407935 - Sequence 388959 from Patent EP1572962. JD181973 - Sequence 162997 from Patent EP1572962. JD267153 - Sequence 248177 from Patent EP1572962. JD230649 - Sequence 211673 from Patent EP1572962. JD561510 - Sequence 542534 from Patent EP1572962. JD394335 - Sequence 375359 from Patent EP1572962. JD249252 - Sequence 230276 from Patent EP1572962. JD150283 - Sequence 131307 from Patent EP1572962. JD354304 - Sequence 335328 from Patent EP1572962. JD259266 - Sequence 240290 from Patent EP1572962. JD257210 - Sequence 238234 from Patent EP1572962. JD363070 - Sequence 344094 from Patent EP1572962. BC101549 - Homo sapiens Sp7 transcription factor, mRNA (cDNA clone MGC:126598 IMAGE:8069055), complete cds. BC113613 - Homo sapiens Sp7 transcription factor, mRNA (cDNA clone MGC:142173 IMAGE:8322665), complete cds. AY150674 - Homo sapiens specificity protein 7 short isoform mRNA, complete cds; alternatively spliced. EU446563 - Synthetic construct Homo sapiens clone IMAGE:100070267; IMAGE:100011772; FLH257360.01L Sp7 transcription factor (SP7) gene, encodes complete protein. AB527932 - Synthetic construct DNA, clone: pF1KB0968, Homo sapiens SP7 gene for Sp7 transcription factor, without stop codon, in Flexi system. JD390063 - Sequence 371087 from Patent EP1572962.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein Q8TDD2 (Reactome details) participates in the following event(s): R-HSA-8939852 RUNX2 and SP7 bind the UCMA gene promoter R-HSA-8940973 RUNX2 regulates osteoblast differentiation R-HSA-8941326 RUNX2 regulates bone development R-HSA-8878166 Transcriptional regulation by RUNX2 R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)

Other Names for This Gene


	Alternate Gene Symbols: B3KY26, ENST00000536324.1, ENST00000536324.2, ENST00000536324.3, NM_001173467, OSX, Q3MJ72, Q7Z718, Q8TDD2, SP7_HUMAN, uc324oru.1, uc324oru.2 UCSC ID: ENST00000536324.4_10 RefSeq Accession: NM_001173467.3 Protein: Q8TDD2 (aka SP7_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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