SOX6 - SRY-box transcription factor 6 Gene

Also Known as SOXD; HSSOX6; TOLCAS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55553

About SOX6

Cytogenetic location: 11p15.2 Genomic coordinates (GRCh38): 11:15,966,449-16,738,477 (from NCBI)

This gene has 19 transcripts (splice variants), 211 orthologues, 20 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 4.6), kidney (RPKM 4.5) and 23 other tissues.

Summary

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]

SOX6 Products (6)

mRNA	Protein	Name
NM_001145811.2	NP_001139283.1	transcription factor SOX-6 isoform b
NM_001145819.2	NP_001139291.2	transcription factor SOX-6 isoform a
NM_001367872.1	NP_001354801.1	transcription factor SOX-6 isoform d
NM_001367873.1	NP_001354802.1	transcription factor SOX-6 isoform a
NM_017508.3	NP_059978.2	transcription factor SOX-6 isoform b
NM_033326.3	NP_201583.2	transcription factor SOX-6 isoform c

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor activity	IMP IMP: Inferred from mutant phenotype	32442410	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21262861	GOA
enables protein homodimerization activity	IMP IMP: Inferred from mutant phenotype	32442410	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	26525805	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in brain development	IDA IDA: Inferred from direct assay	32442410	GOA
involved in cellular response to transforming growth factor beta stimulus	IDA IDA: Inferred from direct assay	21401405	GOA
involved in negative regulation of cardiac muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	20081117	GOA
involved in positive regulation of cartilage development	IDA IDA: Inferred from direct assay	21401405	GOA
involved in positive regulation of chondrocyte differentiation	IDA IDA: Inferred from direct assay	21401405	GOA
involved in positive regulation of mesenchymal stem cell differentiation	IDA IDA: Inferred from direct assay	21401405	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IMP IMP: Inferred from mutant phenotype	32442410	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SOX6 Protein Structure

HMG_box

0
200
400
600
828 a.a.

Protein Preferred Names	Protein Names
transcription factor SOX-6	SRY (sex determining region Y)-box 6

SOX6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SOX6	P35712	SHOX	Homo sapiens	O15266	Y2H	21262861

Cross: Cross-species interaction Intra: Intraspecies interaction

SOX6 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811089	SOX6 Antibody	WB, IHC-P, ChIP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Tolchin-Le Caignec Syndrome	TOLCAS Intellectual Developmental Disorder With Behavioral Abnormalities And Variable Bone Defects
Osteochondroma	Cartilaginous Exostosis
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Arthrogryposis, Distal, Type 2a	Freeman-Sheldon Syndrome Craniocarpotarsal Dystrophy Craniocarpotarsal Dysplasia DA2A Whistling Face-Windmill Vane Hand Syndrome Fss Distal Arthrogryposis Type 2a Whistling Face Syndrome Freeman-Burian Syndrome Arthrogryposis Distal Type 2a Distal Arthrogryposis, Type 2a Fbs Arthrogryposis, Distal, 2a
Thalassemia	Sickle-Cell Thalassemia With Crisis Sickle-Cell Thalassemia Without Crisis Thalassemia Hb-S Disease With Crisis Thalassemia Hb-S Disease Without Crisis Thalassemias Hereditary Leptocytosis Haemoglobin Thalassaemia Disorder Thalassaemia Syndrome Thalassaemia Nos Thalassemia Variants
Arthrogryposis, Distal, Type 1a	Distal Arthrogryposis Type 1 Digitotalar Dysmorphism DA1A Da1 Amcd1 Arthrogryposis, Distal, Type 2b4 Distal Arthrogryposis Type 1a Arthrogryposis, Distal, Type 1 Arthrogryposis Multiplex Congenita Distal Type 1 Arthrogryposis Multiplex Congenita, Distal Type 1 Arthrogryposis Multiplex Congenita, Distal, Type I Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1a Amc Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, 2b4 DA2B4 Arthrogryposis Multiplex Congenita, Distal, Type 1 Arthrogryposis
Campomelic Dysplasia	Acampomelic Campomelic Dysplasia Camptomelic Dysplasia Campomelic Dysplasia With Autosomal Sex Reversal Cmpd CMD1 Cmpd1 Cmpd1/Sra1 Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal Campomelic Dwarfism Campomelic Syndrome Dysplasia, Campomelic Chronic Myeloproliferative Disorder Familial Dilated Cardiomyopathy
Arthrogryposis, Distal, Type 1b	DA1B Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1b
Fetal Hemoglobin Quantitative Trait Locus 1	Hereditary Persistence Of Fetal Hemoglobin Delta-Beta-Thalassemia Delta-Beta Thalassemia Delta Beta-Thalassemia HBFQTL1 Hemoglobin F, Hereditary Persistence Of Hpfh Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related Hemoglobin, Fetal, Quantitative Trait Locus 1 Hereditary Persistence Of Fetal Hemoglobin Thalassemia Hpfh - [Hereditary Persistence Of Fetal Haemoglobin] Fetal Haemoglobin Persistence Of Fetal Haemoglobin Persistent Haemoglobin F
Cartilage Disease	Cartilage Diseases Cartilage Cartilage Disorder Chondropathy Cartilage Disorders
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Hemoglobinopathy	Hemoglobinopathies
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13597	SOX6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20338	Sox6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26846	Sox6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SOX6	MGD	MGI:98368
Bos taurus	SOX6	VGNC	VGNC:35150
Canis familiaris	SOX6	VGNC	VGNC:46682
Macaca mulatta	SOX6	VGNC	VGNC:77931
Felis catus	SOX6	VGNC	VGNC:65583
Rattus norvegicus	SOX6	RGD	RGD:1309000
Others	SOX6	NCBI