======= RAX2 ======= == Gene Information == * **Official Symbol**: RAX2 * **Official Name**: retina and anterior neural fold homeobox 2 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=84839|84839]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q96IS3|Q96IS3]] * **Interactions**: [[https://thebiogrid.org/search.php?search=RAX2&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RAX2|Open PubMed]] * **OMIM**: [[https://omim.org/entry/610362|Open OMIM]] == Function Summary == * **Entrez Summary**: 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]. * **UniProt Summary**: May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter. {ECO:0000269|PubMed:15028672}. |Homeobox| |visual perception| |sensory perception of light stimulus| |DNA-binding transcription activator activity, RNA polymerase II-specific| |RNA polymerase II proximal promoter sequence-specific DNA binding| |sensory perception| |positive regulation of transcription by RNA polymerase II| |nervous system process| |positive regulation of transcription, DNA-templated| |DNA-binding transcription factor activity, RNA polymerase II-specific| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |positive regulation of RNA metabolic process| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |system process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |positive regulation of biosynthetic process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp435|JQ1 0.8μM R08 exp435]]|-1.78| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 12241 * **Expression level (log2 read counts)**: 1.33 {{:chemogenomics:nalm6 dist.png?nolink |}}