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RAX2 Gene(Protein Coding)

Retina And Anterior Neural Fold Homeobox 2

GCID:
GC19M003769
GIFtS:
44
Genes Participants
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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
  • Retina And Anterior Neural Fold Homeobox Protein 2 3
  • 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. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is RAX.

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.

Additional gene information for RAX2 Gene

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

Genomics for RAX2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for RAX2 Gene

Promoters and enhancers for RAX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19I003772 Promoter 0.8 EPDnew 550.8 0.0 -27 0.1 MEIS2 ZFHX2 PKNOX1 MAZ EGR1 VEZF1 EGR2 RAX2 ENSG00000267148
GH19I003771 Enhancer 0.6 ENCODE 550.8 +1.0 1003 0.1 SMARCA5 ZMYM3 ZNF623 ZFHX2 ZFP3 ZFP36 ZNF580 KDM1A EGR2 RAX2 MRPL54
GH19I003725 Enhancer 0.9 ENCODE dbSUPER 12 +46.2 46207 1.5 BCOR PKNOX1 ZBTB6 SIN3A ZMYM3 ZIC2 ZNF121 PRDM10 MAZ SP2 MRPL54 APBA3 RAX2 ZFR2 GC19P003720 TJP3 GC19P003750
GH19I003828 Enhancer 0.9 Ensembl ENCODE 11.9 -56.4 -56393 0.6 ATF1 ETV1 JUN FOSL1 GATA3 EGR1 RCOR1 ATF7 CREM TCF7L2 ZFR2 ATCAY RAX2 APBA3 MRPL54 GC19P003837 GC19P003816
GH19I003728 Enhancer 0.7 ENCODE 12 +43.5 43462 1.4 BCOR KLF1 FOSL1 ZFHX2 POLR3A EGR1 PRDM10 ZNF600 EGR2 ZNF639 MRPL54 ZNF554 APBA3 RAX2 ZFR2 CACTIN ZNF77 GC19P003720 TJP3 GC19P003750
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAX2 gene promoter:

Genomic Locations for RAX2 Gene

Genomic Locations for RAX2 Gene
chr19:3,769,089-3,772,221
(GRCh38/hg38)
Size:
3,133 bases
Orientation:
Minus strand
chr19:3,769,087-3,772,233
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for RAX2 Gene

Proteins for RAX2 Gene

Products:

  1. Antibody
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  • 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

Protein Expression for RAX2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for RAX2 Gene

InterPro:
ProtoNet:

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.
genes like me logo Genes that share domains with RAX2: view

Function for RAX2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 15028672
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 15028672
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with RAX2: view
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

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAX2 gene
Compartment Confidence
nucleus 5

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAX2 Gene

Pathways & Interactions for RAX2 Gene

SuperPathways for RAX2 Gene

PathCards logo More details on SuperPathways for RAX2
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:0006366 transcription by RNA polymerase II IEA --
GO:0007601 visual perception IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 15028672
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for RAX2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RAX2 Gene

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

Unigene Clusters for RAX2 Gene

Retina and anterior neural fold homeobox 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAX2 Gene

mRNA expression in normal human tissues for RAX2 Gene
mRNA expression by BioGPS for RAX2 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for RAX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RAX2 Gene:

RAX2

SOURCE GeneReport for Unigene cluster for RAX2 Gene:

Hs.532691

Evidence on tissue expression from TISSUES for RAX2 Gene

  • Eye(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAX2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with RAX2: view

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 33 34
  • 99.46 (n)
dog
(Canis familiaris)
 Mammalia RAX2 33 34
  • 88.22 (n)
cow
(Bos Taurus)
 Mammalia RAX2 33 34
  • 87.58 (n)
oppossum
(Monodelphis domestica)
 Mammalia RAX2 34
  • 60 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 28 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves RAX1 34
  • 29 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 29 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii rx3 34
  • 33 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta hbn 34
  • 15 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea ceh-8 34
  • 23 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 17 (a)
 OneToMany
Species where no ortholog for RAX2 was found in the sources mined by GeneCards:
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for RAX2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs10405125 likely-benign, Macular degeneration, Cone-Rod Dystrophy, Dominant 3,769,719(-) C/A/T 3_prime_UTR_variant
rs1049913551 uncertain-significance, Cone-Rod Dystrophy, Dominant, Macular degeneration 3,772,213(-) G/T 5_prime_UTR_variant
rs115071988 likely-benign, Cone-Rod Dystrophy, Dominant, Macular degeneration 3,769,932(-) G/A/T 3_prime_UTR_variant
rs121908280 pathogenic, Age-related macular degeneration 6, Macular degeneration, age-related, 6 (ARMD6) [MIM:613757] 3,770,916(-) C/A/G/T coding_sequence_variant, missense_variant
rs121908281 pathogenic, Cone-rod dystrophy 11, Cone-rod dystrophy 11 (CORD11) [MIM:610381] 3,770,767(-) C/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv470114 CNV loss 18288195
nsv509718 CNV insertion 20534489

Variation tolerance for RAX2 Gene

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

Additional Variant Information for RAX2 Gene

Human Gene Mutation Database (HGMD)
RAX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAX2

SNP Genotyping and Copy Number Assay Products

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

Disorders for RAX2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RAX2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {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.

Additional Disease Information for RAX2

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 QL … Zack DJ (Human molecular genetics 2004) 3 4 58
  2. Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation. (PMID: 25789692) Yang P … Pennesi ME (JAMA ophthalmology 2015) 3 58
  3. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S … Seielstad M (Genes and immunity 2010) 3 58
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58

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