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)
  • Response to stimulus
    (GO:0050896)
  • 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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.82
    Marker Score: 839
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.81
    Marker Score: 8017
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1173
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.46
    Marker Score: 1102
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 858
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 488
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4822
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.13
    Marker Score: 591.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.05
    Marker Score: 799
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71835
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48060
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 510
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 463
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5342
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.81
    Marker Score: 373.5
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1263
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 463
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 172
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.5
    Marker Score: 1444
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.37
    Marker Score: 705
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.35
    Marker Score: 5543
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.35
    Marker Score: 103
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.34
    Marker Score: 683
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.34
    Marker Score: 481.5
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.28
    Marker Score: 282
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.28
    Marker Score: 132
  • Cell Name: S cone cell (CL0003050)
    Fold Change: 0.23
    Marker Score: 70
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.22
    Marker Score: 640
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.21
    Marker Score: 192
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.17
    Marker Score: 105
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.17
    Marker Score: 72
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.17
    Marker Score: 496
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 41
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.16
    Marker Score: 66
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.15
    Marker Score: 54
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.15
    Marker Score: 99
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.14
    Marker Score: 196
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.14
    Marker Score: 288
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.13
    Marker Score: 82
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.13
    Marker Score: 34
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.11
    Marker Score: 897
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.1
    Marker Score: 61
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.1
    Marker Score: 31
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.09
    Marker Score: 116
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.09
    Marker Score: 41
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.09
    Marker Score: 5102
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.09
    Marker Score: 48
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.09
    Marker Score: 60
  • Cell Name: T-helper 1 cell (CL0000545)
    Fold Change: 0.09
    Marker Score: 35
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.08
    Marker Score: 23
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.08
    Marker Score: 20
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.08
    Marker Score: 68
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.08
    Marker Score: 81
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.08
    Marker Score: 26
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.08
    Marker Score: 55
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.08
    Marker Score: 86
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.07
    Marker Score: 66
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.07
    Marker Score: 139
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.07
    Marker Score: 41
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.07
    Marker Score: 140
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.07
    Marker Score: 15
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.07
    Marker Score: 65
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.07
    Marker Score: 30
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.07
    Marker Score: 33
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.07
    Marker Score: 63
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.06
    Marker Score: 71
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.06
    Marker Score: 43
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.06
    Marker Score: 29
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.06
    Marker Score: 13
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.06
    Marker Score: 3096
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.06
    Marker Score: 55
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.06
    Marker Score: 349
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.06
    Marker Score: 38
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.06
    Marker Score: 105
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.06
    Marker Score: 89
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.06
    Marker Score: 72
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.06
    Marker Score: 95
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.05
    Marker Score: 14
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.05
    Marker Score: 66
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.05
    Marker Score: 107
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 0.05
    Marker Score: 23
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.05
    Marker Score: 12
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.05
    Marker Score: 68.5
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.05
    Marker Score: 15
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.05
    Marker Score: 15

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Other Information

**Key characteristics:** - The CRX gene is a large gene with a complex structure. It contains a central region that is involved in DNA binding, and two flanking regions that are involved in protein-protein interactions. - The CRX protein is a transcription factor that is expressed in cells of the eye and the central nervous system. - The CRX protein is involved in the regulation of gene expression. - Mutations in the CRX gene have been linked to a number of eye diseases, including retinitis pigmentosa and macular degeneration. **Pathways and functions:** - The CRX protein is involved in the development and function of the retina. - The CRX protein is a key regulator of the development of the retina. - Mutations in the CRX gene have been linked to a number of eye diseases, including retinitis pigmentosa and macular degeneration. **Clinical significance:** - The CRX gene is a promising target for the treatment of eye diseases. - Drugs that target the CRX protein have been shown to be effective in treating retinitis pigmentosa and macular degeneration. - Further research is needed to develop more effective treatments for eye diseases that are caused by mutations in the CRX gene.

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 21 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 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 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SAM 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. For the full schema, download it here.