SOX6 - SRY-box transcription factor 6 Gene

Homo sapiens

Also known as SOXD; HSSOX6; TOLCAS

Gene ID: 55553 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13597	SOX6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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