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    SP7 Sp7 transcription factor [ Homo sapiens (human) ]

    Gene ID: 121340, updated on 2-Oct-2018

    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; Vega:OTTHUMG00000170031
    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 current GRCh38.p12 (GCF_000001405.38) 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 chromosome 12 open reading frame 10 Neighboring gene aladin WD repeat nucleoporin Neighboring gene Sp1 transcription factor Neighboring gene anti-Mullerian hormone receptor type 2

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat'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

    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 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
     
    proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific 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 
    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
      13574..23219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001173467.2NP_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)
      AC073611, AF477981, AK128520
      Consensus CDS
      CCDS44897.1
      UniProtKB/Swiss-Prot
      Q8TDD2
      Related
      ENSP00000443827.2, OTTHUMP00000242639, ENST00000536324.3, OTTHUMT00000406917
      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, OTTHUMP00000242703, ENST00000537210.2, OTTHUMT00000407041
      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_152860.1NP_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)
      AF477981
      Consensus CDS
      CCDS44897.1
      UniProtKB/Swiss-Prot
      Q8TDD2
      Related
      ENSP00000302812.3, OTTHUMP00000242702, ENST00000303846.3, OTTHUMT00000407040
      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 Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 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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