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Aliases for VSX2 Gene

Aliases for VSX2 Gene

  • Visual System Homeobox 2 2 3 5
  • Ceh-10 Homeodomain-Containing Homolog 3 4
  • Homeobox Protein CHX10 3 4
  • CHX10 3 4
  • HOX10 3 4
  • Ceh-10 Homeo Domain Containing Homolog (C. Elegans) 2
  • Ceh-10 Homeodomain Containing Homolog (C. Elegans) 2
  • C Elegans Ceh-10 Homeo Domain-Containing Homolog 2
  • Ceh-10 Homeo Domain Containing Homolog 3
  • MCOPCB3 3
  • MCOP2 3
  • RET1 3

External Ids for VSX2 Gene

Previous HGNC Symbols for VSX2 Gene

  • HOX10
  • CHX10

Previous GeneCards Identifiers for VSX2 Gene

  • GC14P073776
  • GC14P074706
  • GC14P054873

Summaries for VSX2 Gene

Entrez Gene Summary for VSX2 Gene

  • 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]

GeneCards Summary for VSX2 Gene

VSX2 (Visual System Homeobox 2) is a Protein Coding gene. Diseases associated with VSX2 include Microphthalmia, Isolated 2 and Microphthalmia With Coloboma 3. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is UNCX.

UniProtKB/Swiss-Prot for VSX2 Gene

  • 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).

Gene Wiki entry for VSX2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VSX2 Gene

Genomics for VSX2 Gene

Regulatory Elements for VSX2 Gene

Enhancers for VSX2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around VSX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for VSX2 Gene

Chromosome:
14
Start:
74,239,472 bp from pter
End:
74,262,738 bp from pter
Size:
23,267 bases
Orientation:
Plus strand

Genomic View for VSX2 Gene

Genes around VSX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VSX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VSX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VSX2 Gene

Proteins for VSX2 Gene

  • Protein details for VSX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58304-VSX2_HUMAN
    Recommended name:
    Visual system homeobox 2
    Protein Accession:
    P58304
    Secondary Accessions:
    • A1A4X6

    Protein attributes for VSX2 Gene

    Size:
    361 amino acids
    Molecular mass:
    39411 Da
    Quaternary structure:
    No Data Available

neXtProt entry for VSX2 Gene

Proteomics data for VSX2 Gene at MOPED

Post-translational modifications for VSX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VSX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for VSX2 Gene

Domains & Families for VSX2 Gene

Gene Families for VSX2 Gene

Protein Domains for VSX2 Gene

Suggested Antigen Peptide Sequences for VSX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P58304

UniProtKB/Swiss-Prot:

VSX2_HUMAN :
  • Contains 1 CVC domain.
  • Belongs to the paired homeobox family.
Domain:
  • Contains 1 CVC domain.
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with VSX2: view

Function for VSX2 Gene

Molecular function for VSX2 Gene

UniProtKB/Swiss-Prot 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).
genes like me logo Genes that share phenotypes with VSX2: view

Human Phenotype Ontology for VSX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VSX2 Gene

MGI Knock Outs for VSX2:

Animal Model Products

Transcription Factor Targets for VSX2 Gene

Selected GeneGlobe predicted Target genes for VSX2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA and HOMER Transcription for VSX2 Gene

Localization for VSX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VSX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VSX2 Gene COMPARTMENTS Subcellular localization image for VSX2 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
endoplasmic reticulum 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for VSX2 Gene

Pathways & Interactions for VSX2 Gene

SuperPathways for VSX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for VSX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0007601 visual perception IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with VSX2: view

No data available for Pathways by source and SIGNOR curated interactions for VSX2 Gene

Drugs & Compounds for VSX2 Gene

No Compound Related Data Available

Transcripts for VSX2 Gene

mRNA/cDNA for VSX2 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for VSX2 Gene

Visual system homeobox 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VSX2 Gene

No ASD Table

Relevant External Links for VSX2 Gene

GeneLoc Exon Structure for
VSX2
ECgene alternative splicing isoforms for
VSX2

Expression for VSX2 Gene

mRNA expression in normal human tissues for VSX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VSX2 Gene

This gene is overexpressed in Testis (x8.0), Brain - Spinal cord (cervical c-1) (x5.1), Brain - Substantia nigra (x4.1), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for VSX2 Gene

This gene is overexpressed in Retina (34.5) and Peripheral blood mononuclear cells (34.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for VSX2 Gene



SOURCE GeneReport for Unigene cluster for VSX2 Gene Hs.449771

mRNA Expression by UniProt/SwissProt for VSX2 Gene

P58304-VSX2_HUMAN
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.
genes like me logo Genes that share expression patterns with VSX2: view

Protein tissue co-expression partners for VSX2 Gene

- Elite partner

Primer Products

Orthologs for VSX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for VSX2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia VSX2 35
  • 91.14 (n)
  • 92.52 (a)
VSX2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VSX2 35
  • 94.83 (n)
  • 96.12 (a)
VSX2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vsx2 35
  • 91.41 (n)
  • 96.68 (a)
Vsx2 16
Vsx2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VSX2 35
  • 99.54 (n)
  • 99.72 (a)
VSX2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vsx2 35
  • 91.41 (n)
  • 96.95 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 86 (a)
ManyToMany
chicken
(Gallus gallus)
Aves VSX2 35
  • 81.78 (n)
  • 83.29 (a)
VSX2 36
  • 78 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 71 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia vsx2 35
  • 67.2 (n)
  • 71.88 (a)
zebrafish
(Danio rerio)
Actinopterygii vsx2 35
vsx2 35
  • 69.77 (n)
  • 75.47 (a)
vsx2 36
  • 68 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Vsx1 36
  • 15 (a)
ManyToMany
Vsx2 36
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-10 36
  • 38 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2804 35
Species with no ortholog for VSX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VSX2 Gene

ENSEMBL:
Gene Tree for VSX2 (if available)
TreeFam:
Gene Tree for VSX2 (if available)

Paralogs for VSX2 Gene

Paralogs for VSX2 Gene

(1) SIMAP similar genes for VSX2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with VSX2: view

Variants for VSX2 Gene

Sequence variations from dbSNP and Humsavar for VSX2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_011618 Microphthalmia with cataracts and iris abnormalities (MCOPCTI)
VAR_011619 Microphthalmia with cataracts and iris abnormalities (MCOPCTI)
VAR_029357 Microphthalmia, isolated, 2 (MCOP2)
rs35214083 - 74,239,860(+) CGACC(A/C)GCAGA reference, missense
VAR_067269 Microphthalmia, isolated, 2 (MCOP2)

Structural Variations from Database of Genomic Variants (DGV) for VSX2 Gene

Variant ID Type Subtype PubMed ID
nsv902096 CNV Gain 21882294
nsv902097 CNV Gain 21882294
esv269970 CNV Insertion 20981092

Variation tolerance for VSX2 Gene

Gene Damage Index Score: 3.97; 59.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VSX2 Gene

Human Gene Mutation Database (HGMD)
VSX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VSX2 Gene

Disorders for VSX2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for VSX2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, isolated 2
  • isolated microphthalmia 2
microphthalmia with coloboma 3
  • microphthalmia with cataracts and iris abnormalities
colobomatous microphthalmia
  • mac
anophthalmia/microphthalmia
isolated microphthalmia
  • microphthalmia, isolated 6
- elite association - COSMIC cancer census association via MalaCards
Search VSX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VSX2_HUMAN
  • Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]: A 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, cataract and other abnormalities like cataract may also be present. {ECO:0000269 PubMed:10932181}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Microphthalmia, isolated, 2 (MCOP2) [MIM:610093]: A 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, and other abnormalities may also be present. {ECO:0000269 PubMed:15257456, ECO:0000269 PubMed:21976963}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Microphthalmia, isolated, with coloboma, 3 (MCOPCB3) [MIM:610092]: A 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, and other abnormalities may also be present. 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). {ECO:0000269 PubMed:15257456, ECO:0000269 PubMed:24033328}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for VSX2

Genetic Association Database (GAD)
VSX2
Human Genome Epidemiology (HuGE) Navigator
VSX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VSX2
genes like me logo Genes that share disorders with VSX2: view

No data available for Genatlas for VSX2 Gene

Publications for VSX2 Gene

  1. Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. (PMID: 18648522) Aung T. … Vithana E.N. (Mol. Vis. 2008) 3 23 48 67
  2. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PMID: 20057906) Zhang X. … Zhang Q. (Mol. Vis. 2009) 3 23
  3. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. (PMID: 18385794) Zhou J. … Young T.L. (Mol. Vis. 2008) 3 23
  4. Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. (PMID: 17661825) Faiyaz-Ul-Haque M. … Teebi A.S. (Clin. Genet. 2007) 3 23
  5. Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1. (PMID: 15647262) Dorval K.M. … Bremner R. (J. Biol. Chem. 2005) 3 23

Products for VSX2 Gene

Sources for VSX2 Gene

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