Description: Homo sapiens visual system homeobox 2 (VSX2), mRNA. RefSeq Summary (NM_182894): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Transcript (Including UTRs) Position: hg19 chr14:74,706,175-74,729,441 Size: 23,267 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr14:74,706,265-74,727,622 Size: 21,358 Coding Exon Count: 5
ID:VSX2_HUMAN DESCRIPTION: RecName: Full=Visual system homeobox 2; AltName: Full=Ceh-10 homeodomain-containing homolog; AltName: Full=Homeobox protein CHX10; FUNCTION: Plays a significant role in the specification and morphogenesis of the sensory retina. May also participate in the development of the cells of the inner nuclear layer, particularly bipolar cells (By similarity). SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Abundantly expressed in retinal neuroblasts during eye development and in the inner nuclear layer of the adult retina. Within this layer, expression is stronger in the outer margin where bipolar cells predominate. DISEASE: Defects in VSX2 are the cause of microphthalmia isolated type 2 (MCOP2) [MIM:610093]; also known as isolated clinical anophthalmia. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataractand other abnormalities like cataract may also be present. DISEASE: Defects in VSX2 are the cause of microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]. DISEASE: Defects in VSX2 are the cause of microphthalmia isolated with coloboma type 3 (MCOPCB3) [MIM:610092]; also known as isolated colobomatous microphthalmia 3. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). SIMILARITY: Belongs to the paired homeobox family. SIMILARITY: Contains 1 CVC domain. SIMILARITY: Contains 1 homeobox DNA-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VSX2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P58304
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007601 visual perception GO:0050896 response to stimulus
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