RAX2

Protein identityUniProt · HPA

UniProt accession

Q96IS3

Gene

RAX2

Ensembl

ENSG00000173976

Chromosome

19

Canonical length

184 aa

Protein class

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

Subcellular location

Nucleoplasm,Nuclear speckles,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

184 residues, UniProt reviewed canonical sequence.

>Q96IS3|RAX2
     1  MFLSPGEGPA TEGGGLGPGE EAPKKKHRRN RTTFTTYQLH QLERAFEASH YPDVYSREEL
    61  AAKVHLPEVR VQVWFQNRRA KWRRQERLES GSGAVAAPRL PEAPALPFAR PPAMSLPLEP
   121  WLGPGPPAVP GLPRLLGPGP GLQASFGPHA FAPTFADGFA LEEASLRLLA KEHAQALDRA
   181  WPPA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAX2 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)

0.61

Highest tissue expression

60 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RAX2.

Disease | AllUniProt

Conditions RAX2 is implicated in, by any mechanism.

• Macular degeneration, age-related, 6 (ARMD6) MIM:613757
• Cone-rod dystrophy 11 (CORD11) MIM:610381
• Retinitis pigmentosa 95 (RP95) MIM:620102

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 287 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cone-rod dystrophy 11
• Retinal dystrophy
• Retinitis pigmentosa 95

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)

1.81

gnomAD pLI

0.01

gnomAD missense Z

0.17

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 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

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

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

KeywordsUniProt

• Age-related macular degeneration
• Cone-rod dystrophy
• DNA-binding
• Homeobox
• Nucleus
• Retinitis pigmentosa
• Sensory transduction
• Transcription
• Transcription regulation
• Vision

InteractionsUniProt · HPA

Protein binding partners of RAX2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CRX