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  2. SOX4 - SRY-box transcription factor 4 Gene

SOX4 - SRY-box transcription factor 4 Gene

中文名称:SRY-box 转录因子 4

种属: Homo sapiens

同用名: CSS10; EVI16

基因 ID: 6659 | 基因类型: protein coding

关于 SOX4

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:21,593,751-21,598,619 (from NCBI)

This gene has 1 transcript (splice variant), 230 orthologues, 20 paralogues and is associated with 3 phenotypes.

功能概要

这种无内含子的基因编码参与胚胎发育调节和细胞命运决定的转录因子 SOX (SRY 相关 HMG 盒) 家族的成员。编码的蛋白质在与其他蛋白质形成蛋白质复合物后可以作为转录调节因子,例如多聚糖结合蛋白 (syntenin) 。该蛋白可能在导致细胞死亡和肿瘤发生的细胞凋亡途径中发挥作用,并可能介导甲状旁腺激素 (PTH) 和 PTH 相关蛋白 (PTHrP) 在骨骼发育中的下游效应。解决方案结构已经解决了类似小鼠蛋白质的 HMG-box。[RefSeq 提供,2008 年 7 月]

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with Other proteins, such as syndecan binding protein (syntenin). The protein may function in the Apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]

SOX4 基因产物(1)

mRNA Protein Name
NM_003107.3 NP_003098.1 transcription factor SOX-4
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 activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
19147588 GOA
NOT enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
26291311 GOA
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
7706298 GOA
enables DNA-binding transcription factor activity IMP
IMP: 通过突变表型推断
20049565 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
20049565 GOA
enables protein binding IDA
IDA: 通过直接分析推断
26291311 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16631117 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of cell population proliferation IMP
IMP: 通过突变表型推断
19234109 GOA
involved in negative regulation of myoblast differentiation IDA
IDA: 通过直接分析推断
26291311 GOA
involved in negative regulation of protein ubiquitination IMP
IMP: 通过突变表型推断
19234109 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
26291311 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
16631117 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
19234109 GOA
involved in positive regulation of N-terminal peptidyl-lysine acetylation IDA
IDA: 通过直接分析推断
19234109 GOA
involved in positive regulation of apoptotic process IMP
IMP: 通过突变表型推断
15522200 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
17875931 GOA
involved in positive regulation of myoblast differentiation IDA
IDA: 通过直接分析推断
26291311 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
19147588 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
20049565 GOA
involved in positive regulation of translation IMP
IMP: 通过突变表型推断
19234109 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
17875931 GOA
involved in regulation of DNA damage response, signal transduction by p53 class mediator IMP
IMP: 通过突变表型推断
19234109 GOA
involved in regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
7706298 GOA
involved in regulation of protein stability IMP
IMP: 通过突变表型推断
19234109 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
17875931 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16631117 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

SOX4 蛋白结构

HMG_box

HMG_box: HMG (high mobility group) box (59 - 127)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 474 a.a.
蛋白主名 其他名称

transcription factor SOX-4

SRY (sex determining region Y)-box 4

SOX4 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
SOX4 Q06945 TP53 Homo sapiens P04637 19234109
种属内
SOX4 Q06945 TP53 Homo sapiens P04637 19234109
种属内
SOX4 Q06945 TP53 Homo sapiens P04637 19234109
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
Coffin-Siris Syndrome 10

CSS10

Coffin-Siris Syndrome, Type 10

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Osteogenic Sarcoma

Osteosarcoma

OSRC

Osteosarcoma, Somatic

Neoplasms, Bone Tissue

Bone Tissue Neoplasm

Osteoid Sarcoma

Skeletal Sarcoma

Osteosarcoma Of Bone

Bone Sarcoma

Adenoid Cystic Carcinoma

Adenocystic Carcinoma

Cribriform Carcinoma

Cylindroma

Carcinoma Adenoid Cystic

Carcinoma, Adenoid Cystic

Adenoid Cystic Carcinoma Of Salivary Gland

Eccrine Dermal Cylindroma

Carcinoma, Cribriform

Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Hypertrichosis
Hypotonia
Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus SOX4 MGD MGI:98366
Canis familiaris SOX4 VGNC VGNC:54996
Bos taurus SOX4 VGNC VGNC:54491
Rattus norvegicus SOX4 RGD RGD:1309488
Macaca mulatta SOX4 VGNC VGNC:77842
Felis catus SOX4 VGNC VGNC:102523