2. Gene
  3. SOX6 - SRY-box transcription factor 6 Gene

SOX6 - SRY-box transcription factor 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：SRY-box 转录因子 6

种属: Homo sapiens

同用名: SOXD; HSSOX6; TOLCAS

基因 ID: 55553 | 基因类型: protein coding

关于 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.

功能概要

该基因编码性别决定区 y 相关转录因子的 D 亚家族成员，其特征在于称为高迁移率族框的保守 DNA 结合域以及它们结合 DNA 小沟的能力。编码的蛋白质是一种转录激活剂，是中枢神经系统正常发育、软骨形成以及心肌和骨骼肌细胞维持所必需的。编码的蛋白质与其他家族成员相互作用，共同激活基因表达。可变剪接导致多个转录变体。[RefSeq 提供，2009 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription factor activity IMP
IMP: 通过突变表型推断
32442410 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21262861 GOA
enables protein homodimerization activity IMP
IMP: 通过突变表型推断
32442410 GOA
enables transcription cis-regulatory region binding IDA
IDA: 通过直接分析推断
26525805 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brain development IDA
IDA: 通过直接分析推断
32442410 GOA
involved in cellular response to transforming growth factor beta stimulus IDA
IDA: 通过直接分析推断
21401405 GOA
involved in negative regulation of cardiac muscle cell differentiation IMP
IMP: 通过突变表型推断
20081117 GOA
involved in positive regulation of cartilage development IDA
IDA: 通过直接分析推断
21401405 GOA
involved in positive regulation of chondrocyte differentiation IDA
IDA: 通过直接分析推断
21401405 GOA
involved in positive regulation of mesenchymal stem cell differentiation IDA
IDA: 通过直接分析推断
21401405 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IMP
IMP: 通过突变表型推断
32442410 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SOX6 蛋白结构

HMG_box

HMG_box: HMG (high mobility group) box (621 - 689)

  • 0
  • 200
  • 400
  • 600
  • 828 a.a.
蛋白主名 其他名称

transcription factor SOX-6

SRY (sex determining region Y)-box 6

SOX6 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SOX6 P35712 SHOX Homo sapiens O15266
Y2H
21262861
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13597 SOX6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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