Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RAX2 Gene

Aliases for RAX2 Gene

  • Retina And Anterior Neural Fold Homeobox 2 2 3
  • RAXL1 3 4 6
  • QRX 3 4 6
  • Retina And Anterior Neural Fold Homeobox-Like Protein 1 3 4
  • Retina And Anterior Neural Fold Homeobox Like 1 2 3
  • Q50-Type Retinal Homeobox Protein 3 4
  • CORD11 3 6
  • ARMD6 3 6
  • Retina And Anterior Neural Fold Homeobox Protein 2 3

External Ids for RAX2 Gene

Previous HGNC Symbols for RAX2 Gene

  • RAXL1

Previous GeneCards Identifiers for RAX2 Gene

  • GC19M003449
  • GC19M003498
  • GC19M003499

Summaries for RAX2 Gene

Entrez Gene Summary for RAX2 Gene

  • This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. [provided by RefSeq, Jul 2008]

GeneCards Summary for RAX2 Gene

RAX2 (Retina And Anterior Neural Fold Homeobox 2) is a Protein Coding gene. Diseases associated with RAX2 include macular degeneration, age-related, 6 and cone-rod dystrophy 11. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is PHOX2B.

UniProtKB/Swiss-Prot for RAX2 Gene

  • May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAX2 Gene

Genomics for RAX2 Gene

Regulatory Elements for RAX2 Gene

Genomic Location for RAX2 Gene

Start:
3,769,089 bp from pter
End:
3,772,221 bp from pter
Size:
3,133 bases
Orientation:
Minus strand

Genomic View for RAX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAX2 Gene

Proteins for RAX2 Gene

  • Protein details for RAX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96IS3-RAX2_HUMAN
    Recommended name:
    Retina and anterior neural fold homeobox protein 2
    Protein Accession:
    Q96IS3
    Secondary Accessions:

    Protein attributes for RAX2 Gene

    Size:
    184 amino acids
    Molecular mass:
    20086 Da
    Quaternary structure:
    • Interacts with CRX.

neXtProt entry for RAX2 Gene

Proteomics data for RAX2 Gene at MOPED

Post-translational modifications for RAX2 Gene

No Post-translational modifications

Other Protein References for RAX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAX2 Gene

Domains for RAX2 Gene

Gene Families for RAX2 Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Protein Domains for RAX2 Gene

Suggested Antigen Peptide Sequences for RAX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96IS3

UniProtKB/Swiss-Prot:

RAX2_HUMAN :
  • Q96IS3
Domain:
  • The Homeobox transactivates the Ret-1 element in the presence of CRX and NRL
  • Contains 1 homeobox DNA-binding domain.
genes like me logo Genes that share domains with RAX2: view

Function for RAX2 Gene

Molecular function for RAX2 Gene

UniProtKB/Swiss-Prot Function: May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter.

Gene Ontology (GO) - Molecular Function for RAX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with RAX2: view

Phenotypes for RAX2 Gene

GenomeRNAi human phenotypes for RAX2:
genes like me logo Genes that share phenotypes with RAX2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for RAX2 Gene

Localization for RAX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAX2 Gene COMPARTMENTS Subcellular localization image for RAX2 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for RAX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with RAX2: view

Pathways for RAX2 Gene

SuperPathways for RAX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RAX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007601 visual perception IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with RAX2: view

No data available for Pathways by source for RAX2 Gene

Transcripts for RAX2 Gene

mRNA/cDNA for RAX2 Gene

Unigene Clusters for RAX2 Gene

Retina and anterior neural fold homeobox 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAX2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAX2 Gene

No ASD Table

Relevant External Links for RAX2 Gene

GeneLoc Exon Structure for
RAX2
ECgene alternative splicing isoforms for
RAX2

Expression for RAX2 Gene

mRNA expression in normal human tissues for RAX2 Gene

mRNA differential expression in normal tissues according to GTEx for RAX2 Gene

This gene is overexpressed in Pituitary (19.3), Uterus (10.0), and Fallopian Tube (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RAX2 Gene

SOURCE GeneReport for Unigene cluster for RAX2 Gene Hs.532691

genes like me logo Genes that share expressions with RAX2: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for RAX2 Gene

Orthologs for RAX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAX2 35
  • 99.46 (n)
  • 99.46 (a)
RAX2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAX2 35
  • 87.58 (n)
  • 91.3 (a)
RAX2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAX2 35
  • 88.22 (n)
  • 92.39 (a)
RAX2 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAX2 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 28 (a)
OneToMany
chicken
(Gallus gallus)
Aves RAX1 36
  • 29 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 29 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rx3 36
  • 33 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta hbn 36
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-8 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
OneToMany
Species with no ortholog for RAX2:
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RAX2 Gene

ENSEMBL:
Gene Tree for RAX2 (if available)
TreeFam:
Gene Tree for RAX2 (if available)

Paralogs for RAX2 Gene

Paralogs for RAX2 Gene

Selected SIMAP similar genes for RAX2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RAX2: view

Variants for RAX2 Gene

Sequence variations from dbSNP and Humsavar for RAX2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs917545 -- 3,769,755(+) ATGCG(A/G)CTGGG utr-variant-3-prime
rs917546 -- 3,769,836(+) AGGAA(C/T)GGTCT utr-variant-3-prime
rs917547 -- 3,769,901(+) CCTGG(C/T)CCGGG utr-variant-3-prime
rs1860322 -- 3,769,472(+) ATGGC(A/G)GGGCG utr-variant-3-prime
rs6510769 -- 3,769,255(+) cacca(C/G)tacac utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RAX2 Gene

Variant ID Type Subtype PubMed ID
nsv910722 CNV Loss 21882294
dgv3651n71 CNV Loss 21882294
nsv470114 CNV Loss 18288195
dgv3660n71 CNV Loss 21882294
dgv3662n71 CNV Loss 21882294
nsv509718 CNV Insertion 20534489
nsv910770 CNV Loss 21882294
dgv3663n71 CNV Loss 21882294
nsv910775 CNV Loss 21882294
nsv910777 CNV Loss 21882294

Relevant External Links for RAX2 Gene

HapMap Linkage Disequilibrium report
RAX2
Human Gene Mutation Database (HGMD)
RAX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAX2 Gene

Disorders for RAX2 Gene

(2) OMIM Diseases for RAX2 Gene (610362)

UniProtKB/Swiss-Prot

RAX2_HUMAN
  • Macular degeneration, age-related, 6 (ARMD6) [MIM:613757]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:15028672}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Cone-rod dystrophy 11 (CORD11) [MIM:610381]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:15028672}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAX2

Human Genome Epidemiology (HuGE) Navigator
RAX2
genes like me logo Genes that share disorders with RAX2: view

Publications for RAX2 Gene

  1. QRX, a novel homeobox gene, modulates photoreceptor gene expression. (PMID: 15028672) Wang Q.-L. … Zack D.J. (Hum. Mol. Genet. 2004) 3 4
  2. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S. … Seielstad M. (Genes Immun. 2010) 3
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for RAX2 Gene

Sources for RAX2 Gene

Back to Top

Content