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Aliases for RAX2 Gene

Aliases for RAX2 Gene

  • Retina And Anterior Neural Fold Homeobox 2 2 3 5
  • 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
  • RAXL1 3 4
  • QRX 3 4
  • CORD11 3
  • ARMD6 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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. An important paralog of this gene is PRRX2.

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

Chromosome:
19
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

Genes around RAX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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 & Families for RAX2 Gene

Gene Families for RAX2 Gene

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 :
  • The Homeobox transactivates the Ret-1 element in the presence of CRX and NRL.
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.
genes like me logo Genes that share phenotypes with RAX2: view

Human Phenotype Ontology for RAX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets 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 5

No data available for Gene Ontology (GO) - Cellular Components for RAX2 Gene

Pathways & Interactions 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:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with RAX2: view

No data available for Pathways by source and SIGNOR curated interactions for RAX2 Gene

Drugs & Compounds for RAX2 Gene

No Compound Related Data Available

Transcripts for RAX2 Gene

mRNA/cDNA for RAX2 Gene

Unigene Clusters for RAX2 Gene

Retina and anterior neural fold homeobox 2:
Representative Sequences:

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 (x19.3), Uterus (x10.0), and Fallopian Tube (x5.2).

Protein differential expression in normal tissues from HIPED for RAX2 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RAX2: view

Protein tissue co-expression partners for RAX2 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia RAX2 35
  • 99.46 (n)
  • 99.46 (a)
RAX2 36
  • 99 (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

(27) 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
rs121908280 Macular degeneration, age-related, 6 (ARMD6) 3,770,916(-) GGAGC(A/G)GCTGG reference, missense
VAR_031908 Cone-rod dystrophy 11 (CORD11)
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

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

Variation tolerance for RAX2 Gene

Gene Damage Index Score: 1.63; 31.23% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(7) MalaCards diseases for RAX2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macular degeneration, age-related, 6
  • age-related macular degeneration 6
cone-rod dystrophy 11
  • cord11
retinitis pigmentosa
  • retinitis pigmentosa 1
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
cholinergic urticaria
- elite association - COSMIC cancer census association via MalaCards
Search RAX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAX2_HUMAN
  • 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.
  • 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.

Relevant External Links for RAX2

Human Genome Epidemiology (HuGE) Navigator
RAX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAX2
genes like me logo Genes that share disorders with RAX2: view

No data available for Genatlas for RAX2 Gene

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 67
  2. Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation. (PMID: 25789692) Yang P. … Pennesi M.E. (JAMA Ophthalmol 2015) 3
  3. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S. … Seielstad M. (Genes Immun. 2010) 3
  4. 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

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