VSX2 - visual system homeobox 2 Gene
Also Known as RET1; CHX10; HOX10; MCOP2; MCOPCB3
Species: Homo sapiens
About VSX2
This gene has 1 transcript (splice variant), 249 orthologues, 50 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.
Summary
This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]
VSX2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_182894.3 | NP_878314.1 | visual system homeobox 2 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables DNA-binding transcription repressor activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
15647262 | GOA |
| enables RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
15647262 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32814053 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in negative regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
15647262 | GOA |
VSX2 Protein Structure
Homeobox: Homeobox domain (149 - 205)
OAR: OAR domain (300 - 318)
- 0
- 100
- 200
- 300
- 361 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
visual system homeobox 2 |
|
VSX2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
VSX2 | P58304 | GTF3C3 | Homo sapiens | Q9Y5Q9 | 32814053 | |
|
Intra
|
VSX2 | P58304 | GTF3C3 | Homo sapiens | Q9Y5Q9 | 32814053 | |
|
Intra
|
VSX2 | P58304 | GTF3C3 | Homo sapiens | Q9Y5Q9 | 32814053 | |
|
Intra
|
VSX2 | P58304 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | DNM2 | Homo sapiens | P50570-2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | DNM2 | Homo sapiens | P50570-2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | DNM2 | Homo sapiens | P50570-2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | KIF1B | Homo sapiens | O60333-2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | KIF1B | Homo sapiens | O60333-2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | KIF1B | Homo sapiens | O60333-2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | APBB2 | Homo sapiens | Q92870-2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | APBB2 | Homo sapiens | Q92870-2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | APBB2 | Homo sapiens | Q92870-2 | 32814053 | |
|
Intra
|
VSX2 | P58304 | q96bh6_human | Homo sapiens | Q96BH6 | 32814053 | |
|
Intra
|
VSX2 | P58304 | q96bh6_human | Homo sapiens | Q96BH6 | 32814053 | |
|
Intra
|
VSX2 | P58304 | q96bh6_human | Homo sapiens | Q96BH6 | 32814053 | |
|
Intra
|
VSX2 | P58304 | HSPB1 | Homo sapiens | P04792 | 32814053 | |
|
Intra
|
VSX2 | P58304 | HSPB1 | Homo sapiens | P04792 | 32814053 | |
|
Intra
|
VSX2 | P58304 | HSPB1 | Homo sapiens | P04792 | 32814053 | |
|
Intra
|
VSX2 | P58304 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
VSX2 | P58304 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
VSX2 | P58304 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
VSX2 | P58304 | RNF11 | Homo sapiens | Q9Y3C5 | 32814053 | |
|
Intra
|
VSX2 | P58304 | RNF11 | Homo sapiens | Q9Y3C5 | 32814053 | |
|
Intra
|
VSX2 | P58304 | RNF11 | Homo sapiens | Q9Y3C5 | 32814053 | |
|
Intra
|
VSX2 | P58304 | NEFL | Homo sapiens | P07196 | 32814053 | |
|
Intra
|
VSX2 | P58304 | NEFL | Homo sapiens | P07196 | 32814053 | |
|
Intra
|
VSX2 | P58304 | NEFL | Homo sapiens | P07196 | 32814053 | |
|
Intra
|
VSX2 | P58304 | PMP22 | Homo sapiens | A0A6Q8PF08 | 32814053 | |
|
Intra
|
VSX2 | P58304 | PMP22 | Homo sapiens | A0A6Q8PF08 | 32814053 | |
|
Intra
|
VSX2 | P58304 | PMP22 | Homo sapiens | A0A6Q8PF08 | 32814053 | |
|
Intra
|
VSX2 | P58304 | TTR | Homo sapiens | P02766 | 32814053 | |
|
Intra
|
VSX2 | P58304 | TTR | Homo sapiens | P02766 | 32814053 | |
|
Intra
|
VSX2 | P58304 | TTR | Homo sapiens | P02766 | 32814053 | |
|
Intra
|
VSX2 | P58304 | NDUFV2 | Homo sapiens | P19404 | 32814053 | |
|
Intra
|
VSX2 | P58304 | NDUFV2 | Homo sapiens | P19404 | 32814053 | |
|
Intra
|
VSX2 | P58304 | NDUFV2 | Homo sapiens | P19404 | 32814053 | |
|
Intra
|
VSX2 | P58304 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
VSX2 | P58304 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
VSX2 | P58304 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
VSX2 | P58304 | GFAP | Homo sapiens | P14136 | 32814053 | |
|
Intra
|
VSX2 | P58304 | GFAP | Homo sapiens | P14136 | 32814053 | |
|
Intra
|
VSX2 | P58304 | GFAP | Homo sapiens | P14136 | 32814053 | |
|
Intra
|
VSX2 | P58304 | PRPS1 | Homo sapiens | P60891 | 32814053 | |
|
Intra
|
VSX2 | P58304 | PRPS1 | Homo sapiens | P60891 | 32814053 | |
|
Intra
|
VSX2 | P58304 | PRPS1 | Homo sapiens | P60891 | 32814053 |
VSX2 Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P83045 | CHX10 Antibody (YA2790) | WB, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Microphthalmia, Isolated 2 |
|
|
| Microphthalmia, Isolated, With Coloboma 3 |
|
|
| Microphthalmia |
|
|
| Colobomatous Microphthalmia |
|
|
| Fryns Microphthalmia Syndrome |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Retinitis Pigmentosa |
|
|
| Lens Subluxation |
|
|
| Isolated Microphthalmia |
|
|
| Bilateral Retinoblastoma |
|
|
| Microphthalmia, Isolated 3 |
|
|
| Acrorenal Syndrome |
|
|
| Corneal Endothelial Dystrophy |
|
|
| Microphthalmia, Syndromic 8 |
|
|
| Syndromic Microphthalmia |
|
|
| Microphthalmia, Syndromic 3 |
|
|
| Coloboma Of Macula |
|
|
| Nanophthalmos |
|
|
| Orbital Cyst |
|
|
| Congenital Aphakia |
|
|
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Peters-Plus Syndrome |
|
|
| Unilateral Retinoblastoma |
|
|
| Oculoauricular Syndrome |
|
|
| Leukocoria |
|
|
| Keratitis, Hereditary |
|
|
| Aniridia 1 |
|
|
| Enhanced S-Cone Syndrome |
|
|
| Microphthalmia, Syndromic 2 |
|
|
| Microphthalmia, Syndromic 9 |
|
|
| Microphthalmia, Syndromic 1 |
|
|
| Iris Disease |
|
|
| Cataract |
|
|
| Sclerocornea |
|
|
| Vitreous Disease |
|
|
| Gyrate Atrophy Of Choroid And Retina |
|
|
| Anterior Segment Dysgenesis |
|
|
| Persistent Hyperplastic Primary Vitreous |
|
|
| Doyne Honeycomb Retinal Dystrophy |
|
|
| Late-Onset Retinal Degeneration |
|
|
| Axenfeld-Rieger Syndrome |
|
|
| Degeneration Of Macula And Posterior Pole |
|
|
| Eye Degenerative Disease |
|
|
| Congenital Stationary Night Blindness |
|
|
| Leber Plus Disease |
|
|
| Eye Disease |
|
|
| Fundus Dystrophy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | VSX2 | VGNC | VGNC:48313 |
| Macaca mulatta | VSX2 | VGNC | VGNC:79201 |
| Bos taurus | VSX2 | VGNC | VGNC:36846 |
| Rattus norvegicus | VSX2 | RGD | RGD:621215 |
| Mus musculus | VSX2 | MGD | MGI:88401 |
| Others | VSX2 | NCBI |