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SP7 Sp7 transcription factor [ Homo sapiens (human) ]

Gene ID: 121340, updated on 20-Dec-2019

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
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

Genomic context

See SP7 in Genome Data Viewer
Location:
12q13.13
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (53326575..53344793, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53720359..53730167, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12 Neighboring gene MYG1 exonuclease Neighboring gene aladin WD repeat nucleoporin Neighboring gene Sharpr-MPRA regulatory region 10893 Neighboring gene Sp1 transcription factor

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126598

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DEAD/H-box RNA helicase binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
hematopoietic stem cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of stem cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transcription factor Sp7
Names
zinc finger protein osterix

NCBI Reference Sequences (RefSeq)

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

  1. NG_023391.2 RefSeqGene

    Range
    13440..23219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001173467.3NP_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
    Q8TDD2
    Related
    ENSP00000443827.2, ENST00000536324.4
    Conserved Domains (3) summary
    COG5048
    Location:309376
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:299318
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:340365
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001300837.1NP_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
    UniProtKB/Swiss-Prot
    Q8TDD2
    UniProtKB/TrEMBL
    A0A024RAY8
    Related
    ENSP00000441367.2, ENST00000537210.2
    Conserved Domains (3) summary
    COG5048
    Location:291358
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:281300
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:322347
    zf-H2C2_2; Zinc-finger double domain
  3. NM_152860.2NP_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
    Q8TDD2
    Related
    ENSP00000302812.3, ENST00000303846.3
    Conserved Domains (3) summary
    COG5048
    Location:309376
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:299318
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:340365
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    53326575..53344793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537900.2XP_011536202.1  transcription factor Sp7 isoform X1

    See identical proteins and their annotated locations for XP_011536202.1

    UniProtKB/Swiss-Prot
    Q8TDD2
    UniProtKB/TrEMBL
    A0A024RAY8
    Conserved Domains (3) summary
    COG5048
    Location:291358
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:281300
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:322347
    zf-H2C2_2; Zinc-finger double domain
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