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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]
RAX2 (Retina And Anterior Neural Fold Homeobox 2) is a Protein Coding gene. Diseases associated with RAX2 include Cone-Rod Dystrophy 11 and Macular Degeneration, Age-Related, 6. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is RAX.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH19J003771 | Enhancer | 0.7 | Ensembl ENCODE | 250.7 | +0.9 | 927 | 0.6 | ZNF623 GLI4 ZFP36 ZMYM3 ZFP3 EGR2 KDM1A BCOR ZFHX2 HIC1 | RAX2 MRPL54 HSALNG0123304 | |
GH19J003772 | Promoter | 0.6 | EPDnew | 250.7 | 0.0 | -20 | 0.1 | VEZF1 MEIS2 EGR2 PKNOX1 ZFHX2 EGR1 | RAX2 ENSG00000267148 MATK | |
GH19J003725 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 12 | +46.2 | 46214 | 1.5 | ZIC2 SIN3A ZNF341 SP2 MAZ PKNOX1 GLIS1 ZNF398 ZMYM3 EGR1 | MRPL54 APBA3 RAX2 ZFR2 lnc-PIP5K1C-1 TJP3 piR-57460-327 | |
GH19J003727 | Enhancer | 0.9 | Ensembl ENCODE | 12 | +43.7 | 43715 | 1.9 | MNT BHLHE40 ZNF639 KLF9 FOSL1 JUND ZBTB33 EGR1 L3MBTL2 SP7 | MRPL54 APBA3 RAX2 ZFR2 lnc-PIP5K1C-1 piR-57460-327 TJP3 | |
GH19J003828 | Enhancer | 0.9 | Ensembl ENCODE | 11.9 | -56.4 | -56373 | 2 | CEBPB EP300 FOSL1 TCF7L2 ATF1 NRF1 ZBTB33 EGR1 IKZF1 L3MBTL2 | ZFR2 ATCAY RAX2 MRPL54 APBA3 RF00017-2747 MATK RF00017-2748 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 15028672 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 15028672 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007601 | visual perception | IEA | -- |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA | 15028672 |
GO:0050896 | response to stimulus | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAX2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAX2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAX2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RAX2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | RAX1 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | rx3 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | hbn 31 |
|
ManyToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ceh-8 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
834258 | Uncertain Significance: Age-related macular degeneration 6; not provided | 3,770,940(-) |
C/T NM_001319074.4(RAX2):c.236G>A (p.Arg79Gln) |
MISSENSE | |
834260 | Conflicting Interpretations: Retinal dystrophy; not provided | 3,771,588(-) |
G/C NM_001319074.4(RAX2):c.155C>G (p.Pro52Arg) |
MISSENSE | |
836937 | Uncertain Significance: not provided | 3,771,534(-) |
C/T NM_001319074.4(RAX2):c.209G>A (p.Arg70His) |
MISSENSE | |
853992 | Uncertain Significance: not provided | 3,770,632(-) |
G/A NM_001319074.4(RAX2):c.544C>T (p.Pro182Ser) |
MISSENSE | |
856647 | Uncertain Significance: not provided | 3,770,926(-) |
G/A NM_001319074.4(RAX2):c.250C>T (p.Arg84Cys) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
cone-rod dystrophy 11 |
|
|
macular degeneration, age-related, 6 |
|
|
cone-rod dystrophy 2 |
|
|
cerebellar ataxia, cayman type |
|
|
fundus dystrophy |
|
|