SOX2 - SRY-box transcription factor 2 Gene
Also Known as ANOP3; MCOPS3
Species: Homo sapiens
About SOX2
This gene has 1 transcript (splice variant), 150 orthologues, 20 paralogues and is associated with 61 phenotypes.
Summary
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]
SOX2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_003106.4 | NP_003097.1 | transcription factor SOX-2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
16153702 | GOA |
| enables DNA-binding transcription factor activity |
IDA
IDA: Inferred from direct assay
|
16153702 | GOA |
| enables miRNA binding |
IDA
IDA: Inferred from direct assay
|
18710938 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18456656 | GOA |
| enables sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
20713518 | GOA |
| enables transcription cis-regulatory region binding |
IDA
IDA: Inferred from direct assay
|
18407919 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
18027866 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
18000303 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
17291498 | GOA |
SOX2 Protein Structure
HMG_box: HMG (high mobility group) box (41 - 109)
SOXp: SOX transcription factor (110 - 200)
- 0
- 100
- 200
- 300
- 317 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transcription factor SOX-2 |
|
SOX2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SOX2 | P48431 | VRK1 | Homo sapiens | Q99986 | 27334688 | |
|
Intra
|
SOX2 | P48431 | VRK1 | Homo sapiens | Q99986 | 27334688 | |
|
Intra
|
SOX2 | P48431 | VRK1 | Homo sapiens | Q99986 | 27334688 | |
|
Intra
|
SOX2 | P48431 | PRKCI | Homo sapiens | P41743 | 24525231 | |
|
Intra
|
SOX2 | P48431 | USP7 | Homo sapiens | Q93009 | 23667531 | |
|
Intra
|
SOX2 | P48431 | USP7 | Homo sapiens | Q93009 | 23667531 | |
|
Intra
|
SOX2 | P48431 | POU5F1 | Homo sapiens | Q01860 | 25702638 | |
|
Intra
|
SOX2 | P48431 | SUMO1 | Homo sapiens | P63165 | 25416956 | |
|
Intra
|
SOX2 | P48431 | SUMO1 | Homo sapiens | P63165 | 25416956 |
SOX2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80334 | SOX2 Antibody (YA066) | IHC-P | Human |
| HY-P84348 | SOX2 Antibody (YA4045) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Rabbit, Monkey |
| HY-P84348A | SOX2 Antibody (YA4045)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Rabbit, Monkey |
| HY-P85375 | SOX2 Antibody (YA5067) | WB, IHC-P, IHC-F, ICC/IF, IF-Tissue | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Microphthalmia, Syndromic 3 |
|
|
| Septooptic Dysplasia |
|
|
| Nanophthalmos |
|
|
| Colobomatous Microphthalmia |
|
|
| Microphthalmia |
|
|
| Embryonal Carcinoma |
|
|
| Syndromic Microphthalmia |
|
|
| Fryns Microphthalmia Syndrome |
|
|
| Esophageal Atresia |
|
|
| Germ Cell And Embryonal Cancer |
|
|
| Teratoma |
|
|
| Lambert-Eaton Myasthenic Syndrome |
|
|
| Tyrosinemia |
|
|
| Ocular Cancer |
|
|
| Craniopharyngioma |
|
|
| Ablepharon-Macrostomia Syndrome |
|
|
| Central Nervous System Immature Teratoma |
|
|
| Seminoma |
|
|
| Epilepsy, Idiopathic Generalized 15 |
|
|
| Hypopituitarism |
|
|
| Germ Cell Cancer |
|
|
| Sensorineural Hearing Loss |
|
|
| Mixed Germ Cell Cancer |
|
|
| Malignant Teratoma |
|
|
| Ovarian Embryonal Carcinoma |
|
|
| Glycogen Storage Disease |
|
|
| Smarca4-Deficient Sarcoma Of Thorax |
|
|
| Hepatocellular Carcinoma |
|
|
| Microphthalmia, Isolated 3 |
|
|
| Adamantinous Craniopharyngioma |
|
|
| Medulloblastoma |
|
|
| Microphthalmia, Syndromic 8 |
|
|
| Mature Teratoma |
|
|
| Gastric Cancer |
|
|
| Infratentorial Cancer |
|
|
| Feingold Syndrome 1 |
|
|
| Myopia |
|
|
| Cataract |
|
|
| Neuroblastoma |
|
|
| Coloboma Of Macula |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Aniridia 1 |
|
|
| Microphthalmia, Isolated 2 |
|
|
| Macular Degeneration, Age-Related, 7 |
|
|
| Prostate Cancer |
|
|
| Charge Syndrome |
|
|
| Esophageal Cancer |
|
|
| Colorectal Cancer |
|
|
| Spinal Cord Lipoma |
|
|
| Mowat-Wilson Syndrome |
|
|
| Glioblastoma Classical Subtype |
|
|
| Breast Cancer |
|
|
| Sickle Cell Anemia |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Severe Combined Immunodeficiency |
|
|
| Gliosarcoma |
|
|
| Long Qt Syndrome 1 |
|
|
| Kallmann Syndrome |
|
|
| Congenital Nervous System Abnormality |
|
|
| Rasopathy |
|
|
| Hirschsprung Disease 1 |
|
|
| Peripheral Nervous System Disease |
|
|
| Eye Disease |
|
|
| Nervous System Disease |
|
|
| Wilms Tumor 1 |
|
|
| Leukemia, Acute Myeloid |
|
|
| Connective Tissue Disease |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Retinitis Pigmentosa |
|
|
| Fundus Dystrophy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | SOX2 | VGNC | VGNC:65581 |
| Canis familiaris | SOX2 | VGNC | VGNC:46678 |
| Rattus norvegicus | SOX2 | RGD | RGD:1565646 |
| Mus musculus | SOX2 | MGD | MGI:98364 |
| Bos taurus | SOX2 | VGNC | VGNC:35146 |
| Others | SOX2 | NCBI |