Human Gene SOX6 (uc001mme.3) Description and Page Index
Description: Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA. RefSeq Summary (NM_001145819): This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]. Transcript (Including UTRs) Position: hg19 chr11:15,987,995-16,424,413 Size: 436,419 Total Exon Count: 16 Strand: - Coding Region Position: hg19 chr11:15,994,355-16,424,380 Size: 430,026 Coding Exon Count: 16
ID:SOX6_HUMAN DESCRIPTION: RecName: Full=Transcription factor SOX-6; FUNCTION: Transcriptional activator. Binds specifically to the DNA sequence 5'-AACAAT-3'. Plays a key role in several developmental processes, including neurogenesis and skeleton formation. SUBUNIT: Interacts with DAZAP2 (By similarity). INTERACTION: O15266:SHOX; NbExp=3; IntAct=EBI-3505706, EBI-3505698; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in a wide variety of tissues, most abundantly in skeletal muscle. PTM: Sumoylation inhibits the transcriptional activity. SIMILARITY: Contains 1 HMG box DNA-binding domain. SEQUENCE CAUTION: Sequence=BC037866; Type=Frameshift; Positions=505;
Genetic Association Studies of Complex Diseases and Disorders
Bone mineral density (hip) Rivadeneira ,et al. 2009, Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies, Nature genetics 2009 41- 11 : 1199-206.
Obesity Yao-Zhong Liu et al. PloS one 2010, Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males., PloS one.
Our findings, together with the prior biological evidence, suggest the SOX6 genes importance in co-regulation of obesity and osteoporosis.
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.
ModBase Predicted Comparative 3D Structure on P35712
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.
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:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding GO:0046982 protein heterodimerization activity