RAX

Protein identityUniProt · HPA

UniProt accession

Q9Y2V3

Gene

RAX

Ensembl

ENSG00000134438

Chromosome

18

Canonical length

346 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

346 residues, UniProt reviewed canonical sequence.

>Q9Y2V3|RAX
     1  MHLPGCAPAM ADGSFSLAGH LLRSPGGSTS RLHSIEAILG FTKDDGILGT FPAERGARGA
    61  KERDRRLGAR PACPKAPEEG SEPSPPPAPA PAPEYEAPRP YCPKEPGEAR PSPGLPVGPA
   121  TGEAKLSEEE QPKKKHRRNR TTFTTYQLHE LERAFEKSHY PDVYSREELA GKVNLPEVRV
   181  QVWFQNRRAK WRRQEKLEVS SMKLQDSPLL SFSRSPPSAT LSPLGAGPGS GGGPAGGALP
   241  LESWLGPPLP GGGATALQSL PGFGPPAQSL PASYTPPPPP PPFLNSPPLG PGLQPLAPPP
   301  PSYPCGPGFG DKFPLDEADP RNSSIAALRL KAKEHIQAIG KPWQAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAX can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.65

Highest tissue expression

15 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RAX.

Disease | AllUniProt

Conditions RAX is implicated in, by any mechanism.

• Microphthalmia, syndromic 16 (MCOPS16) MIM:611038

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 209 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Isolated microphthalmia 3

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.86

gnomAD pLI

0.1

gnomAD missense Z

0.19

DepMap mean gene effect

0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• camera-type eye development
• hypothalamus development
• limb development
• pattern specification process
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• visual perception

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• OAR domain
• Homedomain-like superfamily
• Homeobox, conserved site
• Retinal homeobox protein RAX/RAX2
• Homeodomain
• OAR motif

KeywordsUniProt

• Developmental protein
• DNA-binding
• Homeobox
• Microphthalmia
• Nucleus
• Transcription
• Transcription regulation