SOX2(SRY (sex determining region Y)-box 2)
基因简称(symbol)
基因种类(locus group)
同源简称(alias symbol)
基因家族代码(gene_family_id)
omim代码
entrez码
vega基因码
ensembl基因码
基因家族(gene family)
refseq数据库代号
更多...
基因种类(locus_type)
基因名称状态(status)
location_sortable
同源基因名称(alias name)
基因名称批准使用时间(date_approved_reserved)
基因简称更名时间(date_symbol_changed)
基因名称更名时间(date_name_changed)
更新时间(date_modified)
ucsc码
ena
ccds数据码
uniprot数据码
pubmed代码
mgd码
rgd码
生命科学数据库(lsdb)
更新时间(date modified)
cosmic
mirbase
基因曾用简称(prev symbol)
基因曾用名称(prev name)
homeodb
cosmic
snornabase
bioparadigms slc
orphanet
假基因信息(pseudogeneorg)
horde id
merops
imgt
iuphar
kznf基因类别
mamit-trnadb
cd
LncRNA数据库
酶代码
中间纤维数据库
收起
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):] 此内含子基因编码SRY相关HMG盒（SOX）家族参与胚胎发育的调节和细胞命运的决定转录因子的成员。需要该基因的产物为干细胞维持在中枢神经系统中，并还规定在胃中的基因表达。在这种基因突变与视神经发育不全和综合征小眼球，结构眼畸形的一个严重的形式相关联。该基因位于被称为SOX2另一种基因转录重叠（SOX2OT）的内含子中。 [由RefSeq的，2008年7月提供]
SOX2基因的碱基突变：
显示全部snp
rs7626501
rs9867181
rs11915160
rs35095647
rs56073304
rs74480245
rs76690191
rs77677339
rs79454424
rs104893803
rs104893808
rs111474548
rs111486598
rs112714090
rs113663248
rs114716761
rs114948167
rs115363694
rs116428122
rs121918652
rs140491878
rs140511650
rs141354265
rs141391454
rs142194441
rs142784273
rs144530684
rs144884537
rs145102783
rs145732415
rs146014583
rs146622016
rs147389341
rs147606682
rs149885815
rs151285802
rs181132204
rs184910307
rs185326201
rs186572523
rs186912166
rs188179465
rs188218421
rs191376028
rs191654038
rs193128738
rs199887134
rs199971071
rs201190086
rs201617684
rs369111881
rs369145443
rs369799712
rs371829742
rs373869865
rs376567372
rs527334970
rs527805305
rs529900465
rs530339252
rs531234684
rs531300988
rs531970771
rs532112248
rs532697673
rs534811396
rs535945016
rs536684526
rs537432912
rs538087453
rs538577061
rs538810572
rs538947131
rs539465676
rs540604974
rs541161851
rs542130902
rs543362083
rs545246097
rs547487901
rs547604786
rs547895459
rs548043258
rs548425389
rs548562229
rs548708228
rs549816246
rs550104120
rs550484780
rs554072499
rs554135827
rs554987797
rs555005969
rs555073561
rs556470240
rs557415087
rs557478645
rs557484597
rs558833744
rs558923056
rs559470800
rs559598182
rs559663179
rs563991531
rs564871416
rs564899320
rs565359725
rs565364880
rs565838530
rs566147265
rs567022371
rs568615630
rs569931992
rs569986249
rs570712738
rs572367129
rs574725004
rs576357407
rs577061850
rs577260772
rs577395949
rs577852268
rs727504169
rs745510925
rs745913995
rs745955310
rs746530609
rs746642730
rs747024121
rs747615720
rs747668628
rs748098957
rs749087345
rs749211717
rs749445919
rs749464287
rs750244558
rs750656301
rs750665327
rs751117691
rs751676715
rs751726777
rs752089700
rs752795014
rs753192651
rs753244099
rs754152585
rs754275280
rs754702829
rs754986575
rs755517456
rs756101843
rs756496221
rs757093500
rs757216254
rs757582560
rs757913217
rs758059463
rs758682114
rs759035879
rs759072077
rs759670648
rs759723764
rs759844431
rs760052359
rs760642461
rs760688357
rs761212235
rs761584574
rs761649748
rs762331271
rs762382551
rs762549192
rs763171566
rs763443472
rs764654757
rs764708190
rs764859792
rs765803004
rs765982831
rs766466234
rs766630697
rs767041458
rs767562099
rs767686608
rs767974880
rs768274049
rs768327184
rs768528466
rs769184831
rs769290320
rs769520201
rs769570510
rs770586287
rs770709207
rs771068335
rs771158394
rs771188024
rs771368269
rs771393751
rs771521201
rs772120284
rs772293205
rs772768409
rs773470359
rs773527487
rs773650673
rs774609522
rs774944911
rs775583460
rs776333710
rs776620962
rs777330890
rs777756267
rs777862989
rs778404109
rs778665464
rs779097787
rs779226331
rs779686992
rs779819503
rs780155407
rs781054227
rs781707393
rs11915160
正向引物序列
正向引物Tm值
反向引物序列
反向引物Tm值
rank
CCCGGATTATAAATACCGGC
58
GTACTTATCCTTCTTCATGAGCG
59
CGGATTATAAATACCGGCCC
58
GTGTACTTATCCTTCTTCATGAGC
59
GAGCACCCGGATTATAAATACC
59
TATCCTTCTTCATGAGCGTC
57
基因本体信息
SOX2基因（以及对应的蛋白质）的细胞分布位置：
- 溶酶体
- 内涵体
- 细胞核
- 细胞质
- 液泡
- 细胞膜
- 细胞外基质
- 内质网
- 线粒体
- 高尔基体
- 细胞骨架
SOX2基因的本体（GO）信息：
GO库代码
对应的蛋白质
来源代码
GO:0000122
P48431(UniProtKB)
ISS
GO:0000976
P48431(UniProtKB)
IEA
GO:0001077
P48431(UniProtKB)
IEA
GO:0001649
P48431(UniProtKB)
IDA
GO:0001654
P48431(UniProtKB)
IEP
GO:0001714
P48431(UniProtKB)
IDA
GO:0003677
P48431(UniProtKB)
IDA
GO:0003677
P48431(UniProtKB)
IDA
GO:0003677
P48431(UniProtKB)
IDA
GO:0003677
P48431(UniProtKB)
IDA
GO:0003677
P48431(UniProtKB)
NAS
GO:0003700
P48431(UniProtKB)
IDA
GO:0003700
P48431(UniProtKB)
IDA
GO:0003700
P48431(UniProtKB)
NAS
GO:0005515
P48431(UniProtKB)
IPI
GO:0005515
P48431(UniProtKB)
IPI
GO:0005515
P48431(UniProtKB)
IPI
GO:0005634
P48431(UniProtKB)
IC
GO:0005634
P48431(UniProtKB)
IDA
GO:0005634
P48431(UniProtKB)
IDA
GO:0005634
P48431(UniProtKB)
IDA
GO:0005634
P48431(UniProtKB)
NAS
GO:0005654
P48431(UniProtKB)
IDA
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005654
P48431(UniProtKB)
TAS
GO:0005667
P48431(UniProtKB)
TAS
GO:0005737
P48431(UniProtKB)
IDA
GO:0005829
P48431(UniProtKB)
IDA
GO:0006325
P48431(UniProtKB)
NAS
GO:0006355
P48431(UniProtKB)
IDA
GO:0006355
P48431(UniProtKB)
NAS
GO:0006366
P48431(UniProtKB)
IEA
GO:0007050
P48431(UniProtKB)
IDA
GO:0009611
P48431(UniProtKB)
IEP
GO:0010468
P48431(UniProtKB)
IMP
GO:0021781
P48431(UniProtKB)
NAS
GO:0021983
P48431(UniProtKB)
IEP
GO:0021984
P48431(UniProtKB)
IEA
GO:0022409
P48431(UniProtKB)
IEA
GO:0030900
P48431(UniProtKB)
IEP
GO:0035019
P48431(UniProtKB)
IMP
GO:0035019
P48431(UniProtKB)
IDA
GO:0035019
P48431(UniProtKB)
IMP
GO:0035019
P48431(UniProtKB)
TAS
GO:0035198
P48431(UniProtKB)
IDA
GO:0042246
P48431(UniProtKB)
IEA
GO:0043281
P48431(UniProtKB)
IDA
GO:0043410
P48431(UniProtKB)
IDA
GO:0043565
P48431(UniProtKB)
IDA
GO:0044212
P48431(UniProtKB)
IDA
GO:0045597
P48431(UniProtKB)
IEA
GO:0045665
P48431(UniProtKB)
ISS
GO:0045893
P48431(UniProtKB)
IDA
GO:0045944
P48431(UniProtKB)
IDA
GO:0045944
P48431(UniProtKB)
IDA
GO:0048839
P48431(UniProtKB)
IEP
GO:0050680
P48431(UniProtKB)
IDA
GO:0070848
P48431(UniProtKB)
IDA
GO:0090090
P48431(UniProtKB)
IDA
GO:0097150
P48431(UniProtKB)
ISS
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Microphthalmia, Syndromic 3 | 0.360814326 | 3 | 0 | BeFree_CLINVAR_CTD_human_ORPHANET |
| Anophthalmos | 0.13806451 | 23 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Squamous cell carcinoma | 0.125428837 | 20 | 0 | BeFree_CTD_human |
| Septo-Optic Dysplasia | 0.123538676 | 3 | 0 | BeFree_LHGDN_ORPHANET |
| Squamous cell carcinoma of esophagus | 0.121900093 | 7 | 0 | BeFree_CTD_human |
| Lung Neoplasms | 0.121357209 | 6 | 0 | BeFree_CTD_human |
| Small cell carcinoma of lung | 0.121085767 | 4 | 0 | BeFree_CTD_human |
| Thoracic Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Sarcoma | 0.12 | 1 | 0 | CTD_human |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
| Microphthalmos | 0.011172724 | 16 | 0 | BeFree_GAD |
| Carcinogenesis | 0.009500466 | 35 | 0 | BeFree |
| Congenital ocular coloboma (disorder) | 0.008815624 | 7 | 0 | BeFree_GAD_LHGDN |
| Stomach Neoplasms | 0.005991584 | 4 | 0 | BeFree_LHGDN |
| Diabetes Mellitus, Insulin-Dependent | 0.005276948 | 2 | 0 | BeFree_GAD |
| Diabetic Nephropathy | 0.005276948 | 2 | 0 | BeFree_GAD |
| Malignant neoplasm of breast | 0.005157396 | 19 | 0 | BeFree |
| Breast Carcinoma | 0.005157396 | 19 | 0 | BeFree |
| Kidney Failure, Chronic | 0.005005506 | 3 | 0 | BeFree_GAD |
| Glioma | 0.004885954 | 18 | 0 | BeFree |
| Neoplasm Metastasis | 0.004885954 | 18 | 0 | BeFree |
| Glioblastoma | 0.004071628 | 15 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.003528744 | 13 | 0 | BeFree |
| Eye Abnormalities | 0.003452799 | 5 | 0 | BeFree_GAD |
| Mammary Neoplasms | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Carcinoma of lung | 0.003257302 | 12 | 0 | BeFree |
| Malignant neoplasm of lung | 0.002985861 | 11 | 0 | BeFree |
| Stomach Carcinoma | 0.002985861 | 11 | 0 | BeFree |
| Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Metaplasia | 0.00272435 | 1 | 0 | LHGDN |
| Embryonal Carcinoma | 0.002714419 | 10 | 0 | BeFree |
| Myopia | 0.002638474 | 1 | 0 | BeFree_GAD |
| Adenocarcinoma | 0.002442977 | 9 | 0 | BeFree |
| Pituitary Diseases | 0.002442977 | 9 | 0 | BeFree |
| Prostate carcinoma | 0.002442977 | 9 | 0 | BeFree |
| Congenital Abnormality | 0.002171535 | 8 | 0 | BeFree |
| Hypogonadotropic hypogonadism | 0.002171535 | 8 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.002171535 | 8 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.001900093 | 7 | 0 | BeFree |
| Colorectal Carcinoma | 0.001900093 | 7 | 0 | BeFree |
| Medulloblastoma | 0.001900093 | 7 | 0 | BeFree |
| Squamous cell carcinoma of lung | 0.001900093 | 7 | 0 | BeFree |
| Tumor Progression | 0.001900093 | 7 | 0 | BeFree |
| Klinefelter Syndrome | 0.001628651 | 6 | 0 | BeFree |
| Liver carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Brain Neoplasms | 0.001357209 | 5 | 0 | BeFree |
| Pancreatic carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Colorectal Cancer | 0.001357209 | 5 | 0 | BeFree |
| Disorder of eye | 0.001085767 | 4 | 0 | BeFree |
| Hypopituitarism | 0.001085767 | 4 | 0 | BeFree |
| Neuroblastoma | 0.001085767 | 4 | 0 | BeFree |
| Seminoma | 0.001085767 | 4 | 0 | BeFree |
| Teratoma | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.001085767 | 4 | 0 | BeFree |
| Malignant Glioma | 0.001085767 | 4 | 0 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.001085767 | 4 | 0 | BeFree |
| Central neuroblastoma | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of larynx | 0.000814326 | 3 | 0 | BeFree |
| Diabetes Mellitus | 0.000814326 | 3 | 1 | BeFree |
| Esophageal Atresia | 0.000814326 | 3 | 1 | BeFree |
| melanoma | 0.000814326 | 3 | 0 | BeFree |
| Osteosarcoma | 0.000814326 | 3 | 0 | BeFree |
| Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Cervical Squamous Cell Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Osteosarcoma of bone | 0.000814326 | 3 | 0 | BeFree |
| Carcinoma of larynx | 0.000814326 | 3 | 0 | BeFree |
| Tumor Initiation | 0.000814326 | 3 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.000814326 | 3 | 0 | BeFree |
| Glioblastoma Multiforme | 0.000814326 | 3 | 0 | BeFree |
| Anaplasia | 0.000542884 | 2 | 0 | BeFree |
| Astrocytoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant tumor of cervix | 0.000542884 | 2 | 0 | BeFree |
| Diabetes | 0.000542884 | 2 | 1 | BeFree |
| Endometriosis | 0.000542884 | 2 | 0 | BeFree |
| Epilepsy | 0.000542884 | 2 | 0 | BeFree |
| Multiple Myeloma | 0.000542884 | 2 | 0 | BeFree |
| Pituitary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| polyps | 0.000542884 | 2 | 0 | BeFree |
| Severe Combined Immunodeficiency | 0.000542884 | 2 | 0 | BeFree |
| Adenocarcinoma of lung (disorder) | 0.000542884 | 2 | 0 | BeFree |
| gliosarcoma | 0.000542884 | 2 | 0 | BeFree |
| Anaplastic thyroid carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Cervix carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of liver | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of esophagus | 0.000542884 | 2 | 0 | BeFree |
| Pituitary hypoplasia | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
| Benign Prostatic Hyperplasia | 0.000542884 | 2 | 0 | BeFree |
| Nasopharyngeal carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Adenoma | 0.000271442 | 1 | 0 | BeFree |
| Ameloblastoma | 0.000271442 | 1 | 0 | BeFree |
| Fabry Disease | 0.000271442 | 1 | 0 | BeFree |
| Bacterial Infections | 0.000271442 | 1 | 0 | BeFree |
| Beckwith-Wiedemann Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
| Carcinoid Tumor | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Developmental Disabilities | 0.000271442 | 1 | 0 | BeFree |
| Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
| Ulcerative Colitis | 0.000271442 | 1 | 0 | BeFree |
| Febrile Convulsions | 0.000271442 | 1 | 0 | BeFree |
| Craniopharyngioma | 0.000271442 | 1 | 0 | BeFree |
| Cystic Adenomatoid Malformation of Lung, Congenital | 0.000271442 | 1 | 0 | BeFree |
| Yolk Sac Tumor | 0.000271442 | 1 | 0 | BeFree |
| Epilepsy, Temporal Lobe | 0.000271442 | 1 | 0 | BeFree |
| Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Sensorineural Hearing Loss (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Hirschsprung Disease | 0.000271442 | 1 | 0 | BeFree |
| Immunologic Deficiency Syndromes | 0.000271442 | 1 | 0 | BeFree |
| Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
| Monoclonal Gammopathy of Undetermined Significance | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
| Prostatic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Refractive Errors | 0.000271442 | 1 | 0 | BeFree |
| Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Arachnoid Cysts | 0.000271442 | 1 | 0 | BeFree |
| Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of mouth | 0.000271442 | 1 | 0 | BeFree |
| Acute myocardial infarction | 0.000271442 | 1 | 0 | BeFree |
| Iron deficiency anemia | 0.000271442 | 1 | 0 | BeFree |
| Germ cell tumor | 0.000271442 | 1 | 0 | BeFree |
| Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cervical Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
| Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Circling gait | 0.000271442 | 1 | 0 | BeFree |
| Multiple tumors | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma, Small Cell | 0.000271442 | 1 | 0 | BeFree |
| Ichthyosis linearis circumflexa | 0.000271442 | 1 | 0 | BeFree |
| Gastric Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Teratoma, Malignant | 0.000271442 | 1 | 0 | BeFree |
| Pilocytic Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
| Human papilloma virus infection | 0.000271442 | 1 | 0 | BeFree |
| Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of skin | 0.000271442 | 1 | 0 | BeFree |
| Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
| Germ Cell Cancer | 0.000271442 | 1 | 0 | BeFree |
| Brain Tumor, Primary | 0.000271442 | 1 | 0 | BeFree |
| Malignant Squamous Cell Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Multiple Sclerosis, Relapsing-Remitting | 0.000271442 | 1 | 0 | BeFree |
| Helicobacter pylori infection | 0.000271442 | 1 | 0 | BeFree |
| Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
| cancer recurrence | 0.000271442 | 1 | 0 | BeFree |
| Ductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Nonseminomatous germ cell tumor | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Testicular Germ Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
| Cardiomyopathy, Familial Idiopathic | 0.000271442 | 1 | 0 | BeFree |
| Hippocampal sclerosis | 0.000271442 | 1 | 0 | BeFree |
| NUT Midline Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Keratocystic Odontogenic Tumor | 0.000271442 | 1 | 0 | BeFree |
| Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
| Hirschsprung disease 1 | 0.000271442 | 1 | 0 | BeFree |
| Early-Stage Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type | 0.000271442 | 1 | 0 | BeFree |
| Male Germ Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
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