SP7 Sp7 transcription factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: SP7provided by HGNC
Official Full Name: Sp7 transcription factorprovided by HGNC
Primary source: HGNC:HGNC:17321
See related: Ensembl:ENSG00000170374 MIM:606633; AllianceGenome:HGNC:17321
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OSX; OI11; OI12; osterix
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 protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (53326575..53344793, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (53292290..53310533, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53720359..53738577, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulation of Skeletal Development and Maintenance by Runx2 and Sp7.
Title: Regulation of Skeletal Development and Maintenance by Runx2 and Sp7.
LncRNA urothelial cancer associated 1 promotes the osteogenic differentiation of human periodontal ligament stem cells by regulating the miR-96-5p/Osx axis.
Title: LncRNA urothelial cancer associated 1 promotes the osteogenic differentiation of human periodontal ligament stem cells by regulating the miR-96-5p/Osx axis.
SP7: from Bone Development to Skeletal Disease.
Title: SP7: from Bone Development to Skeletal Disease.
Epigenetic Repression of RUNX2 and OSX Promoters Controls the Nonmineralized State of the Periodontal Ligament.
Title: Epigenetic Repression of RUNX2 and OSX Promoters Controls the Nonmineralized State of the Periodontal Ligament.
Long Noncoding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 Promotes the Osteoblast Differentiation of Human Bone Marrow-Derived Mesenchymal Stem Cells by Targeting the microRNA-96/Osterix Axis.
Title: Long Noncoding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 Promotes the Osteoblast Differentiation of Human Bone Marrow-Derived Mesenchymal Stem Cells by Targeting the microRNA-96/Osterix Axis.
Sp7 Action in the Skeleton: Its Mode of Action, Functions, and Relevance to Skeletal Diseases.
Title: Sp7 Action in the Skeleton: Its Mode of Action, Functions, and Relevance to Skeletal Diseases.
Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.
Title: Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.
Klotho in Osx(+)-mesenchymal progenitors exerts pro-osteogenic and anti-inflammatory effects during mandibular alveolar bone formation and repair.
Title: Klotho in Osx(+)-mesenchymal progenitors exerts pro-osteogenic and anti-inflammatory effects during mandibular alveolar bone formation and repair.
Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin.
Title: Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin.
Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).
Title: Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).

Submit: New GeneRIF Correction See all GeneRIFs (76)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteogenesis imperfecta type 12 MedGen: C3151433 OMIM: 613849 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
New sequence variants associated with bone mineral density. EBI GWAS Catalog EBI GWAS CatalogPubMed
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:485641

PMC280673P1 (e-PCR)
- UniSTS:272398

PMC156282P2 (e-PCR)
- UniSTS:271390

D12S1604 (e-PCR), detects polymorphism
- UniSTS:38862

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DEAD/H-box RNA helicase binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to zinc ion starvation	IEA Inferred from Electronic Annotation more info
involved_in cementum mineralization	IEA Inferred from Electronic Annotation more info
involved_in diphosphate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic stem cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of stem cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor Sp7

Names: zinc finger protein osterix

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023391.2 RefSeqGene

Range

13440..23219

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001173467.3 → NP_001166938.1 transcription factor Sp7 isoform a

See identical proteins and their annotated locations for NP_001166938.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.

Source sequence(s)

AF477981, AK128520

Consensus CDS

CCDS44897.1

UniProtKB/Swiss-Prot

B3KY26, Q3MJ72, Q7Z718, Q8TDD2

Related

ENSP00000443827.2, ENST00000536324.4

Conserved Domains (3) summary

PHA03247
Location:14 → 249

PHA03247; large tegument protein UL36; Provisional

sd00017
Location:299 → 318

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:340 → 365

zf-H2C2_2; Zinc-finger double domain
NM_001300837.2 → NP_001287766.1 transcription factor Sp7 isoform b

See identical proteins and their annotated locations for NP_001287766.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' structure, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a.

Source sequence(s)

AC073611, AF477981, AY150674, HY020346

Consensus CDS

CCDS73475.1

Related

ENSP00000441367.2, ENST00000537210.2

Conserved Domains (3) summary

PHA03247
Location:3 → 231

PHA03247; large tegument protein UL36; Provisional

sd00017
Location:281 → 300

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:322 → 347

zf-H2C2_2; Zinc-finger double domain
NM_152860.2 → NP_690599.1 transcription factor Sp7 isoform a

See identical proteins and their annotated locations for NP_690599.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AC073611, AF477981

Consensus CDS

CCDS44897.1

UniProtKB/Swiss-Prot

B3KY26, Q3MJ72, Q7Z718, Q8TDD2

Related

ENSP00000302812.3, ENST00000303846.3

Conserved Domains (3) summary

PHA03247
Location:14 → 249

PHA03247; large tegument protein UL36; Provisional

sd00017
Location:299 → 318

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:340 → 365

zf-H2C2_2; Zinc-finger double domain