CRX
Cone-rod homeobox protein
Also known as: CORD2, CRD, CRX_HUMAN, LCA7, OTX3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43186
- Gene
- CRX
- Ensembl
- ENSG00000105392
- Chromosome
- 19
- Canonical length
- 299 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nucleoli fibrillar center,Primary cilium
OverviewNCBI Gene
The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
299 residues, UniProt reviewed canonical sequence.
>O43186|CRX
1 MMAYMNPGPH YSVNALALSG PSVDLMHQAV PYPSAPRKQR RERTTFTRSQ LEELEALFAK
61 TQYPDVYARE EVALKINLPE SRVQVWFKNR RAKCRQQRQQ QKQQQQPPGG QAKARPAKRK
121 AGTSPRPSTD VCPDPLGISD SYSPPLPGPS GSPTTAVATV SIWSPASESP LPEAQRAGLV
181 ASGPSLTSAP YAMTYAPASA FCSSPSAYGS PSSYFSGLDP YLSPMVPQLG GPALSPLSGP
241 SVGPSLAQSP TSLSGQSYGA YSPVDSLEFK DPTGTWKFTY NPMDPLDYKD QSAWKFQILLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CRX 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)
- 0.64
- Highest tissue expression
- 202 nTPM
Expression across tissuesHPA
Tissue
- retina: 202 nTPM
- choroid plexus: 1.6 nTPM
- skeletal muscle: 0.5 nTPM
- bone marrow: 0.1 nTPM
- liver: 0.1 nTPM
- pancreas: 0.1 nTPM
Single-cell type
- rod photoreceptor cells: 556 nCPM
- retinal pigment epithelial cells: 371 nCPM
- cone photoreceptor cells: 358 nCPM
- retinal bipolar cells: 106 nCPM
- retinal horizontal cells: 22 nCPM
- retinal ganglion cells: 19 nCPM
Immune cell
- basophil: 0.4 nTPM
- neutrophil: 0.4 nTPM
- classical monocyte: 0.1 nTPM
- memory B-cell: 0.1 nTPM
- naive B-cell: 0.1 nTPM
- NK-cell: 0.1 nTPM
Brain region
- choroid plexus: 4.3 nTPM
- hypothalamus: 2 nTPM
- hippocampal formation: 1.7 nTPM
- white matter: 1.7 nTPM
- cerebellum: 1.6 nTPM
- cerebral cortex: 1.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CRX.
Disease | AllUniProt
Conditions CRX is implicated in, by any mechanism.
- Leber congenital amaurosis 7 (LCA7) MIM:613829
- Cone-rod dystrophy 2 (CORD2) MIM:120970
- Retinitis pigmentosa (RP) MIM:268000
Disease | GeneticClinVar
138 pathogenic / likely-pathogenic of 557 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cone-rod dystrophy 2
- Leber congenital amaurosis 7
- Retinal dystrophy
- Retinitis pigmentosa
- Cone-rod dystrophy
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)
- 0.6
- gnomAD pLI
- 0.51
- gnomAD missense Z
- 0.33
- 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
- animal organ morphogenesis
- cell differentiation
- nervous system development
- positive regulation of transcription by RNA polymerase II
- regulation of DNA-templated transcription
- regulation of transcription by RNA polymerase II
- retina development in camera-type eye
- visual perception
Molecular functions
- chromatin binding
- DNA-binding transcription activator activity
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- leucine zipper domain binding
- nuclear receptor binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CRX in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CRX as an antibody target. Whether an autoantibody or antibody against CRX could matter depends on whether native CRX is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CRX is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CRX as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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