Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55553
Gene name Gene Name - the full gene name approved by the HGNC.
SRY-box transcription factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOX6
Synonyms (NCBI Gene) Gene synonyms aliases
HSSOX6, SOXD, TOLCAS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TOLCAS
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 e
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004658 hsa-miR-499a-5p Luciferase reporter assay 20081117
MIRT003203 hsa-miR-1-3p Luciferase reporter assay 20081117
MIRT006113 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR, Western blot 21989846
MIRT006113 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR, Western blot 21989846
MIRT006113 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR, Western blot 21989846
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 26525805
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607257 16421 ENSG00000110693
Protein
UniProt ID P35712
Protein name Transcription factor SOX-6
Protein function Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box 621 689 HMG (high mobility group) box Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a wide variety of tissues, most abundantly in skeletal musclen. {ECO:0000269|PubMed:11255018}.
Sequence
MSSKQATSPFACAADGEDAMTQDLTSREKEEGSDQHVASHLPLHPIMHNKPHSEELPTLV
STIQQDADWDSVLSSQQRMESENNKLCSLYSFRNTSTSPHKPDEGSRDREIMTSVTFGTP
ERRKGSLADVVDTLKQKKLEEMTRTEQEDSSCMEKLLSKDWKEKMERLNTSELLGEIKGT
PESLAEKERQLSTMITQLISLREQLLAAHDEQKKLAASQIEKQRQQMDLARQQQEQIARQ
QQQLLQQQHKINLLQQQIQVQGHMPPLMIPIFPHDQRTLAAAAAAQQGFLFPPGITYKPG
DNYPVQFIPSTMAAAAASGLSPLQLQKGHVSHPQINQRLKGLSDRFGRNLDTFEHGGGHS
YNHKQIEQLYAAQLASMQVSPGAKMPSTPQPPNTAGTVSPTGIKNEKRGTSPVTQVKDEA
AAQPLNLSSRPKTAEPVKSPTSPTQNLFPASKTSPVNLPNKSSIPSPIGGSLGRGSSLDI
LSSLNSPALFGDQDTVMKAIQEARKMREQIQREQQQQQPHGVDGKLSSINNMGLNSCRNE
KERTRFENLGPQLTGKSNEDGKLGPGVIDLTRPEDAEGSKAMNGSAAKLQQYYCWPTGGA
TVAEARVYRDARGRASSEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWK
SMSNQEKQPYYEEQARLSKIHLEKYPNYK
YKPRPKRTCIVDGKKLRIGEYKQLMRSRRQE
MRQFFTVGQQPQIPITTGTGVVYPGAITMATTTPSPQMTSDCSSTSASPEPSLPVIQSTY
GMKTDGGSLAGNEMINGEDEMEMYDDYEDDPKSDYSSENEAPEAVSAN
Sequence length 828
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Deactivation of the beta-catenin transactivating complex
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)
19714249
Osteoporosis Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 19714249
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 29942085 ClinVar
Neuroticism Neuroticism GWAS
Hypertension Hypertension GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 31729835
Anemia Associate 29074889, 29333458
Attention Deficit Disorder with Hyperactivity Associate 32442410
beta Thalassemia Associate 29333458, 35577924
Bone Diseases Metabolic Associate 21625884
Carcinoma Renal Cell Associate 34868396, 37103094
Carcinoma Renal Cell Inhibit 36595751
Carotid Stenosis Associate 20966410
Cartilage Diseases Associate 26973327
Chordoma Associate 36804377