RAX2 Gene
protein-coding GIFtS: 45
GCID: GC19M003769
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retina and anterior neural fold homeobox 2(Previous name: retina and anterior neural fold homeobox like 1 )
(Previous symbol: RAXL1)
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Aliases
for RAX2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Retina And Anterior Neural Fold Homeobox 21 2 | | Retina And Anterior Neural Fold Homeobox-Like Protein 12 3 | | RAXL11 2 3 5 | | Q50-Type Retinal Homeobox Protein2 3 | | ARMD61 2 5 | | CORD112 5 | | QRX2 3 5 | | MGC156311 | | Retina And Anterior Neural Fold Homeobox Like 11 2 | | Retina And Anterior Neural Fold Homeobox Protein 22 |
Export aliases for RAX2 gene to outside databasesPrevious GC identifers: GC19M003449 GC19M003498 GC19M003499 |
Summaries
for RAX2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RAX2:
This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causesage-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath theretinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophytype 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss ofcolor vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to nightblindness and the loss of peripheral vision. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: RAX2_HUMAN, Q96IS3Function: May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1element within the rhodopsin promoter
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Genomic Views
for RAX2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011255.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RAX2 gene promoter:
GR AML1a p300 AREB6 CREB PPAR-gamma1 deltaCREB PPAR-gamma2 GR-alpha ATF6
Other transcription factors
Search SABiosciences Chromatin IP Primers for RAX2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAX2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13.3 Ensembl cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13.3RAX2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M003769: view genomic region
(about GC identifiers)
Start:
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3,769,087 bp from pter |
End:
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3,772,233 bp from pter |
Size:
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3,147 bases |
Orientation:
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minus strand |
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Proteins
for RAX2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: RAX2_HUMAN, Q96IS3 (See
protein sequence)Recommended Name: Retina and anterior neural fold homeobox protein 2 Size: 184 amino acids; 20086 Da
Subunit: Interacts with CRX
Subcellular location: Nucleus (By similarity)Explore the universe of human proteins at neXtProt for RAX2: NX_Q96IS3
RAX2 Protein expression data from MOPED and PaxDb: --
REFSEQ proteins: NP_116142.1
ENSEMBL proteins: ENSP00000450687 ENSP00000450456
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
RAX2 for ontologies About GeneDecksing
RAX2 Antibody Products:
Assay Products for RAX2: |
Protein
Domains /
Families
for RAX2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RAX2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96IS3ProtoNet protein and cluster: Q96IS3 UniProtKB/Swiss-Prot: RAX2_HUMAN, Q96IS3Domain: The Homeobox transactivates the Ret-1 element in the presence of CRX and NRLSimilarity: Contains 1 homeobox DNA-binding domain |
Function
for RAX2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RAX2_HUMAN, Q96IS3Function: May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1element within the rhodopsin promoter
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAX2
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAX2
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAX2 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003700 | sequence-specific DNA binding transcription factor activity |
IEA | -- | | GO:0043565 | sequence-specific DNA binding |
IEA | -- |
RAX2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for RAX2:
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Pathways & Interactions
for RAX2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAX2
1 Interacting protein for RAX2 (Q96IS33) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0007601 | visual perception |
IEA | -- | | GO:0050896 | response to stimulus |
IEA | -- |
RAX2 for ontologies About GeneDecksing
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Drugs & Compounds
for RAX2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for RAX2
Search CenterWatch for drugs/clinical trials and news about RAX2
|
Transcripts
for RAX2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for RAX2 gene: NM_032753.3 Unigene Cluster for RAX2: Retina and anterior neural fold homeobox 2 Hs.532691 [show with all ESTs]Unigene Representative Sequence: BC0187092 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000555978 ENST00000555633(uc002lys.3 uc010dtp.2 uc002lyr.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RAX2
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RAX2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: RAX2 (NM_032753) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RAX2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAX2 |
Additional cDNA sequence: AY211277.1 BC018709.1 BC032512.1 3 DOTS entries: DT.97792768 DT.101960631 DT.91986703 24/37 AceView cDNA sequences (see all 37): BQ638250 BE253378 BC007284 BQ639859 BM683813 BM701740 BE252433 BQ638529 BU167304 BE251920 BE251574 BQ637215 BM479851 BQ639716 BG396814 NM_032753 BC032512 BQ639124 BC018709 BQ639073 BM666594 BM688188 AY211277 BQ636803
GeneLoc Exon Structure
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Expression
for RAX2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RAX2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGATGGGACA
About this image
Genevestigator expression for RAX2
SOURCE GeneReport for Unigene cluster: Hs.532691
SABiosciences Custom PCR Arrays for RAX2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RAX2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat RAX2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAX2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAX2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAX2 |
Orthologs
for RAX2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for RAX2 gene from 5/14 species (see all 14) About this table
ENSEMBL Gene Tree for RAX2 (if available)
TreeFam Gene Tree for RAX2 (if available) |
Paralogs
for RAX2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for RAX2 gene
- ALX12 PHOX2B2 RAX2 VSX12 DRGX2 PITX22 PRRX22 PITX12
- ARX2 PRRX12 PHOX2A2 ISX2 ALX42 VSX22 PITX32 ALX32
18/36 SIMAP similar genes for RAX2 using alignment to 2 protein entries: RAX2_HUMAN (see all proteins)
(see all similar genes):VSX1 ALX1 PITX2 NKX2-5 GSC2 UNCX
OTX1 PAX7 PAX7B PITX1 PAX6 ALX4
ARX HOXB1 PRRX1 HOPX SHOX PAX4
RAX2 for paralogs About GeneDecksing
|
Genomic Variants
for RAX2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RAX2 (3769087 - 3772233 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for RAX2
1 CNV: 30067
Human Gene Mutation Database (HGMD): RAX2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAX2 |
|
Disorders
/ Diseases
for RAX2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RAX2 for disorders About GeneDecksing
OMIM gene information: 610362
OMIM disorders: 610381
UniProtKB/Swiss-Prot: RAX2_HUMAN, Q96IS3
Defects in RAX2 are the cause of age-related macular degeneration type 6 (ARMD6) [MIM:613757]. ARMD is in mostpatients manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) thatlie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch's membrane. ARMDis likely to be a mechanistically heterogeneous group of disorders Defects in RAX2 are the cause of cone-rod dystrophy type 11 (CORD11) [MIM:610381]. CORD is characterized bythe initial degeneration of cone photoreceptor cells, thus causing early loss of visual acuity and color vision,followed by the degeneration of rod photoreceptor cells and leading to progressive night blindness and peripheralvisual field loss
9  diseases for RAX2: About MalaCardscone-rod dystrophy age related macular degeneration macular degeneration night blindness
cone-rod dystrophy 11 retinitis blindness hepatitis b
hepatitis
Human Genome Epidemiology (HuGE) Navigator: RAX2 (1 document)
Export disorders for RAX2 gene to outside databases
|
Publications
for RAX2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for RAX2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with RAX2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- QRX, a novel homeobox gene, modulates photoreceptor gene expression. (PubMed id 15028672)1, 2 Wang Q.-L.... Zack D.J. (2004)
- New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
- The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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External Searches for RAX2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing RAX2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
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Other Databases showing RAX2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RAX2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for RAX2 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RAX2 |
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About This Section
| Patent Information for RAX2 gene:
Search GeneIP for patents involving RAX2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RAX2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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 | | | RAX2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAX2 |
|  |  |  | | | | Search ThermoFisher Antibodies for RAX2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAX2 |
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