Details for: CRX

Gene ID: 1406

Symbol: CRX

Ensembl ID: ENSG00000105392

Description: cone-rod homeobox

Associated with

  • Animal organ morphogenesis
    (GO:0009887)
  • Cell differentiation
    (GO:0030154)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity
    (GO:0001216)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Leucine zipper domain binding
    (GO:0043522)
  • Nervous system development
    (GO:0007399)
  • Nuclear receptor binding
    (GO:0016922)
  • Nucleus
    (GO:0005634)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of dna-templated transcription
    (GO:0006355)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii-specific dna-binding transcription factor binding
    (GO:0061629)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Rna polymerase ii transcription regulator complex
    (GO:0090575)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Visual perception
    (GO:0007601)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 16.3297
    Cell Significance Index: -2.5400
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 14.1783
    Cell Significance Index: 199.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 11.1126
    Cell Significance Index: 700.3900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 10.0535
    Cell Significance Index: -2.5500
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 5.3426
    Cell Significance Index: 41.1800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 2.0763
    Cell Significance Index: -2.5600
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 1.9106
    Cell Significance Index: 16.8300
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 1.0403
    Cell Significance Index: 12.6100
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.9108
    Cell Significance Index: 11.3700
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.6876
    Cell Significance Index: 3.8600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4376
    Cell Significance Index: 9.4800
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.3405
    Cell Significance Index: 2.6200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.3297
    Cell Significance Index: 5.2300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.3105
    Cell Significance Index: 9.9500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.2879
    Cell Significance Index: 17.6500
  • Cell Name: diffuse bipolar 2 cell (CL4033028)
    Fold Change: 0.1840
    Cell Significance Index: 2.2600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1496
    Cell Significance Index: 14.8000
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.1410
    Cell Significance Index: 1.9500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1377
    Cell Significance Index: 26.2000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1214
    Cell Significance Index: 2.0800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1208
    Cell Significance Index: 1.4400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1099
    Cell Significance Index: 6.6000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0997
    Cell Significance Index: 1.6800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0743
    Cell Significance Index: 1.9100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0715
    Cell Significance Index: 4.0100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0622
    Cell Significance Index: 1.3300
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.0575
    Cell Significance Index: 0.6500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0531
    Cell Significance Index: 2.7900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0417
    Cell Significance Index: 4.5400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0346
    Cell Significance Index: 1.5700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0343
    Cell Significance Index: 1.7800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.0271
    Cell Significance Index: 0.3800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0179
    Cell Significance Index: 1.2400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0167
    Cell Significance Index: 3.3600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0121
    Cell Significance Index: 10.9300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0101
    Cell Significance Index: 1.2900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0083
    Cell Significance Index: 1.2000
  • Cell Name: S cone cell (CL0003050)
    Fold Change: 0.0077
    Cell Significance Index: 0.0900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0072
    Cell Significance Index: 2.6000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0068
    Cell Significance Index: 1.3400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0062
    Cell Significance Index: 0.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0057
    Cell Significance Index: 0.6600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0045
    Cell Significance Index: 0.8100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0041
    Cell Significance Index: 1.1700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0041
    Cell Significance Index: 0.1200
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.0038
    Cell Significance Index: 0.0300
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.0034
    Cell Significance Index: 0.0500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0023
    Cell Significance Index: 1.0000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0017
    Cell Significance Index: 0.0600
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.0017
    Cell Significance Index: 0.0200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.0007
    Cell Significance Index: 0.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0006
    Cell Significance Index: 1.0500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0003
    Cell Significance Index: 0.6100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0001
    Cell Significance Index: 0.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0001
    Cell Significance Index: 0.0800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0014
    Cell Significance Index: -0.9100
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: -0.0019
    Cell Significance Index: -0.0200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0027
    Cell Significance Index: -1.9600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0028
    Cell Significance Index: -2.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0032
    Cell Significance Index: -1.4400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0032
    Cell Significance Index: -2.4100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0033
    Cell Significance Index: -1.7900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0035
    Cell Significance Index: -1.9500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0045
    Cell Significance Index: -0.7400
  • Cell Name: diffuse bipolar 1 cell (CL4033027)
    Fold Change: -0.0049
    Cell Significance Index: -0.0600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0064
    Cell Significance Index: -1.0900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0066
    Cell Significance Index: -0.0500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0071
    Cell Significance Index: -0.8700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0088
    Cell Significance Index: -0.1200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0088
    Cell Significance Index: -1.0100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0097
    Cell Significance Index: -0.4500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0111
    Cell Significance Index: -2.3300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0116
    Cell Significance Index: -0.2900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0135
    Cell Significance Index: -1.8600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0144
    Cell Significance Index: -1.8600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0146
    Cell Significance Index: -1.4900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0204
    Cell Significance Index: -2.4100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0228
    Cell Significance Index: -1.7500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0235
    Cell Significance Index: -2.4500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0241
    Cell Significance Index: -1.8000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0247
    Cell Significance Index: -1.6600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0263
    Cell Significance Index: -1.7000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0285
    Cell Significance Index: -0.4300
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0285
    Cell Significance Index: -0.4000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0307
    Cell Significance Index: -0.6000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0312
    Cell Significance Index: -0.5000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0319
    Cell Significance Index: -1.9600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0332
    Cell Significance Index: -0.8900
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0333
    Cell Significance Index: -0.2800
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.0334
    Cell Significance Index: -0.4200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0348
    Cell Significance Index: -1.5400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0352
    Cell Significance Index: -0.5200
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0356
    Cell Significance Index: -0.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0389
    Cell Significance Index: -1.8300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0391
    Cell Significance Index: -1.4800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0423
    Cell Significance Index: -0.4800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0427
    Cell Significance Index: -0.5300
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: -0.0429
    Cell Significance Index: -0.5300
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: -0.0431
    Cell Significance Index: -0.1500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Conservation across species**: The CRX gene is highly conserved across species, suggesting its critical role in fundamental biological processes. 2. **Transcriptional regulation**: CRX acts as a transcription factor, regulating the expression of target genes involved in visual perception and cellular differentiation. 3. **Leucine zipper domain**: CRX contains a leucine zipper domain, a characteristic feature of homeobox genes, which allows it to interact with other transcription factors and DNA sequences. 4. **RNA polymerase II-specific**: CRX is specifically bound to RNA polymerase II, a key enzyme involved in transcription, indicating its role in regulating gene expression. **Pathways and Functions** 1. **Visual perception**: CRX regulates the expression of genes involved in visual perception, including photoreceptor cell development and function. 2. **Cellular differentiation**: CRX influences the differentiation of various cell types, including photoreceptor cells, GABAergic interneurons, and intestinal stem cells. 3. **Nervous system development**: CRX is involved in the development of the nervous system, including the cerebral cortex and the visual system. 4. **Regulation of transcription**: CRX regulates the expression of target genes by interacting with RNA polymerase II and other transcription factors. **Clinical Significance** 1. **Retinal degeneration**: Mutations in the CRX gene have been associated with retinal degeneration, a leading cause of visual impairment in adults. 2. **Visual impairment**: CRX dysfunction has been linked to visual impairment, including night blindness and sensitivity to light. 3. **Neurological disorders**: CRX has been implicated in the development of neurological disorders, such as autism and schizophrenia, although the exact mechanisms are still unclear. 4. **Cancer**: CRX has been identified as a potential tumor suppressor gene, with implications for cancer research and therapy. In conclusion, the CRX gene is a critical regulator of visual perception, cellular differentiation, and nervous system development. Its dysregulation has been implicated in various diseases, including retinal degeneration, visual impairment, and neurological disorders. Further research is necessary to fully understand the complex functions of CRX and its potential therapeutic applications.

Genular Protein ID: 2038688978

Symbol: CRX_HUMAN

Name: Cone-rod homeobox protein

UniProtKB Accession Codes:

O43186 Q0QD45

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SASBDB 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9390563

Title: Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

PubMed ID: 9390563

DOI: 10.1016/s0092-8674(00)80440-7

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17286855

Title: Mapping of transcription start sites of human retina expressed genes.

PubMed ID: 17286855

DOI: 10.1186/1471-2164-8-42

PubMed ID: 10625658

Title: Both PCE-1/RX and OTX/CRX interactions are necessary for photoreceptor-specific gene expression.

PubMed ID: 10625658

DOI: 10.1074/jbc.275.2.1152

PubMed ID: 10887186

Title: The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

PubMed ID: 10887186

DOI: 10.1074/jbc.m003658200

PubMed ID: 15028672

Title: QRX, a novel homeobox gene, modulates photoreceptor gene expression.

PubMed ID: 15028672

DOI: 10.1093/hmg/ddh117

PubMed ID: 9427255

Title: Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

PubMed ID: 9427255

DOI: 10.1016/s0896-6273(00)80423-7

PubMed ID: 9792858

Title: A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

PubMed ID: 9792858

DOI: 10.1086/302101

PubMed ID: 9931337

Title: Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.

PubMed ID: 9931337

DOI: 10.1093/hmg/8.2.299

PubMed ID: 11139241

Title: Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

PubMed ID: 11139241

DOI: 10.1002/1098-1004(2001)17:1<42::aid-humu5>3.0.co;2-k

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 18682808

Title: Molecular characterization of Leber congenital amaurosis in Koreans.

PubMed ID: 18682808

PubMed ID: 20513135

Title: Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

PubMed ID: 20513135

DOI: 10.1002/humu.21268

PubMed ID: 21602930

Title: Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PubMed ID: 21602930

DOI: 10.1371/journal.pone.0019458

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 299
  • Mass: 32261
  • Checksum: 46747C09277A0864
  • Sequence:
    • MMAYMNPGPH YSVNALALSG PSVDLMHQAV PYPSAPRKQR RERTTFTRSQ LEELEALFAK 
TQYPDVYARE EVALKINLPE SRVQVWFKNR RAKCRQQRQQ QKQQQQPPGG QAKARPAKRK 
AGTSPRPSTD VCPDPLGISD SYSPPLPGPS GSPTTAVATV SIWSPASESP LPEAQRAGLV 
ASGPSLTSAP YAMTYAPASA FCSSPSAYGS PSSYFSGLDP YLSPMVPQLG GPALSPLSGP 
SVGPSLAQSP TSLSGQSYGA YSPVDSLEFK DPTGTWKFTY NPMDPLDYKD QSAWKFQIL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.