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SP7 Sp7 transcription factor [ Homo sapiens (human) ]

Gene ID: 121340, updated on 11-Sep-2014
Official Symbol
SP7provided by HGNC
Official Full Name
Sp7 transcription factorprovided by HGNC
Primary source
HGNC:HGNC:17321
See related
Ensembl:ENSG00000170374; HPRD:05971; 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]
Location:
12q13.13
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (53326575..53336220, 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 achalasia, adrenocortical insufficiency, alacrimia Neighboring gene Sp1 transcription factor Neighboring gene anti-Mullerian hormone receptor, type II

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Osteogenesis imperfecta type 11
MedGen: C3151218 OMIM: 613849 GeneReviews: Not available
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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
Products Interactant Other Gene Complex Source Pubs Description

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 
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 from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transcription factor Sp7
Names
transcription factor Sp7
zinc finger protein osterix

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_023391.1 

    Range
    4818..14646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001173467.2NP_001166938.1  transcription factor Sp7 isoform a

    See proteins identical to 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, OTTHUMP00000242639, ENST00000536324, OTTHUMT00000406917
    Conserved Domains (2) summary
    COG5048
    Location:309376
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:340365
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001300837.1NP_001287766.1  transcription factor Sp7 isoform b

    See proteins identical to 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
    Conserved Domains (2) summary
    COG5048
    Location:291358
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:322347
    zf-H2C2_2; Zinc-finger double domain
  3. NM_152860.1NP_690599.1  transcription factor Sp7 isoform a

    See proteins identical to 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, OTTHUMP00000242702, ENST00000303846, OTTHUMT00000407040
    Conserved Domains (2) summary
    COG5048
    Location:309376
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:340365
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    53326575..53336220
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268643.2XP_005268700.1  

    UniProtKB/TrEMBL
    A0A024RAY8
    UniProtKB/Swiss-Prot
    Q8TDD2
    Related
    ENSP00000441367, OTTHUMP00000242703, ENST00000537210, OTTHUMT00000407041
    Conserved Domains (2) summary
    COG5048
    Location:291358
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:322347
    zf-H2C2_2; Zinc-finger double domain

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    50761885..50771562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    53687545..53697201
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)