Details for: RAX

Gene ID: 30062

Symbol: RAX

Ensembl ID: ENSG00000134438

Description: retina and anterior neural fold homeobox

Associated with

  • Camera-type eye development
    (GO:0043010)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Hypothalamus development
    (GO:0021854)
  • Limb development
    (GO:0060173)
  • Nucleus
    (GO:0005634)
  • Pattern specification process
    (GO:0007389)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • 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: photoreceptor cell (CL0000210)
    Fold Change: 9.5237
    Cell Significance Index: 133.7600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 2.6116
    Cell Significance Index: 146.5500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.6374
    Cell Significance Index: 22.3400
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: 1.2158
    Cell Significance Index: 19.5500
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.9224
    Cell Significance Index: 2.1300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.8031
    Cell Significance Index: 116.7400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5296
    Cell Significance Index: 33.3800
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.3826
    Cell Significance Index: 4.4300
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.2866
    Cell Significance Index: 3.1600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2303
    Cell Significance Index: 146.2900
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.1774
    Cell Significance Index: 2.2200
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.1274
    Cell Significance Index: 0.9800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0411
    Cell Significance Index: 0.4900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0234
    Cell Significance Index: 44.0900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: 0.0044
    Cell Significance Index: 0.1800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0005
    Cell Significance Index: 0.0100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0003
    Cell Significance Index: -0.1400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0005
    Cell Significance Index: -0.4000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0009
    Cell Significance Index: -1.7500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0015
    Cell Significance Index: -2.2800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0015
    Cell Significance Index: -0.2500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0016
    Cell Significance Index: -0.0800
  • Cell Name: adipocyte (CL0000136)
    Fold Change: -0.0017
    Cell Significance Index: -0.0200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0020
    Cell Significance Index: -0.9100
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0021
    Cell Significance Index: -0.0300
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0030
    Cell Significance Index: -0.0300
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: -0.0036
    Cell Significance Index: -0.0400
  • Cell Name: acinar cell (CL0000622)
    Fold Change: -0.0049
    Cell Significance Index: -0.0600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0050
    Cell Significance Index: -0.5700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0072
    Cell Significance Index: -0.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0074
    Cell Significance Index: -4.0500
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.0075
    Cell Significance Index: -0.0900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0093
    Cell Significance Index: -1.0800
  • Cell Name: smooth muscle cell of the pulmonary artery (CL0002591)
    Fold Change: -0.0110
    Cell Significance Index: -0.0900
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: -0.0116
    Cell Significance Index: -0.1200
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.0131
    Cell Significance Index: -0.1700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0137
    Cell Significance Index: -0.7100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0148
    Cell Significance Index: -2.9700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0195
    Cell Significance Index: -0.9100
  • Cell Name: club cell (CL0000158)
    Fold Change: -0.0223
    Cell Significance Index: -0.2400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0263
    Cell Significance Index: -5.2200
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.0272
    Cell Significance Index: -0.3300
  • Cell Name: goblet cell (CL0000160)
    Fold Change: -0.0281
    Cell Significance Index: -0.2500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0308
    Cell Significance Index: -4.2300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0362
    Cell Significance Index: -0.5500
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0388
    Cell Significance Index: -0.9700
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: -0.0419
    Cell Significance Index: -0.5300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0423
    Cell Significance Index: -4.4000
  • Cell Name: PP cell (CL0000696)
    Fold Change: -0.0433
    Cell Significance Index: -0.4400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0480
    Cell Significance Index: -2.5200
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0482
    Cell Significance Index: -0.6300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0517
    Cell Significance Index: -2.4300
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: -0.0524
    Cell Significance Index: -0.4900
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0552
    Cell Significance Index: -0.7000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0591
    Cell Significance Index: -2.1700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0596
    Cell Significance Index: -1.4300
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0613
    Cell Significance Index: -0.7400
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: -0.0617
    Cell Significance Index: -0.5100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0626
    Cell Significance Index: -1.3100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0639
    Cell Significance Index: -4.3000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0677
    Cell Significance Index: -0.7900
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.0753
    Cell Significance Index: -0.8100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0764
    Cell Significance Index: -2.0800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0837
    Cell Significance Index: -2.4000
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: -0.0850
    Cell Significance Index: -0.9200
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0866
    Cell Significance Index: -1.1100
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0883
    Cell Significance Index: -1.1900
  • Cell Name: immature B cell (CL0000816)
    Fold Change: -0.0919
    Cell Significance Index: -0.8700
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: -0.0933
    Cell Significance Index: -1.0100
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.0964
    Cell Significance Index: -1.0300
  • Cell Name: mast cell (CL0000097)
    Fold Change: -0.0965
    Cell Significance Index: -1.2700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0972
    Cell Significance Index: -3.6800
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.0990
    Cell Significance Index: -1.0600
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.1041
    Cell Significance Index: -1.1400
  • Cell Name: paneth cell (CL0000510)
    Fold Change: -0.1058
    Cell Significance Index: -1.1000
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.1069
    Cell Significance Index: -1.3000
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -0.1070
    Cell Significance Index: -0.7100
  • Cell Name: neutrophil (CL0000775)
    Fold Change: -0.1129
    Cell Significance Index: -1.4100
  • Cell Name: neuroplacodal cell (CL0000032)
    Fold Change: -0.1145
    Cell Significance Index: -1.4100
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: -0.1145
    Cell Significance Index: -1.3200
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1176
    Cell Significance Index: -2.3500
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: -0.1238
    Cell Significance Index: -0.8900
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.1242
    Cell Significance Index: -1.6000
  • Cell Name: eosinophil (CL0000771)
    Fold Change: -0.1264
    Cell Significance Index: -1.1200
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: -0.1280
    Cell Significance Index: -1.1400
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: -0.1294
    Cell Significance Index: -1.3200
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: -0.1322
    Cell Significance Index: -1.2000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1355
    Cell Significance Index: -1.9400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.1401
    Cell Significance Index: -1.0800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1402
    Cell Significance Index: -4.1300
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.1413
    Cell Significance Index: -2.4000
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.1418
    Cell Significance Index: -1.8500
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1426
    Cell Significance Index: -4.5100
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1498
    Cell Significance Index: -1.4200
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: -0.1535
    Cell Significance Index: -0.8800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1550
    Cell Significance Index: -3.9500
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.1563
    Cell Significance Index: -2.0200
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.1588
    Cell Significance Index: -1.8900
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.1604
    Cell Significance Index: -1.5700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1605
    Cell Significance Index: -4.3000

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:** RAX is a homeobox gene that belongs to the class II homeobox (HOX) family, which is essential for patterning and development of various tissues. The RAX gene encodes a transcription factor that specifically binds to DNA and regulates the expression of target genes involved in cell fate determination and differentiation. RAX is highly expressed in progenitor cells, which are cells that have the potential to differentiate into multiple cell types. The gene is also expressed in various cell types, including plasma cells, T cells, and epithelial cells, suggesting its broader role in tissue development and homeostasis. **Pathways and Functions:** RAX mediates its effects through various signaling pathways, including: 1. **Wnt/β-catenin pathway**: RAX regulates the expression of Wnt/β-catenin target genes, which are involved in cell proliferation, differentiation, and survival. 2. **Notch signaling pathway**: RAX modulates the expression of Notch target genes, which are involved in cell fate determination and differentiation. 3. **RNA polymerase II (Pol II) pathway**: RAX regulates the expression of Pol II target genes, which are involved in transcriptional regulation and cell cycle progression. RAX functions as a transcriptional regulator, influencing the expression of target genes involved in: 1. **Cell fate determination**: RAX regulates the expression of genes that determine the fate of progenitor cells, such as the decision to differentiate into a specific cell type. 2. **Differentiation**: RAX promotes the differentiation of progenitor cells into specific cell types, such as photoreceptor cells in the retina. 3. **Survival**: RAX regulates the expression of genes involved in cell survival, such as anti-apoptotic genes. **Clinical Significance:** Dysregulation of RAX has been implicated in various human diseases, including: 1. **Retinal degeneration**: Mutations in the RAX gene have been associated with retinal degeneration, a leading cause of blindness in older adults. 2. **Neurodevelopmental disorders**: RAX has been implicated in neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia, where disruptions in neural development and patterning are thought to contribute to disease pathology. 3. **Cancer**: RAX has been identified as a tumor suppressor gene in certain types of cancer, where its dysregulation contributes to tumorigenesis. In conclusion, the RAX gene plays a critical role in the development and maintenance of various tissues, including the retina, brain, and limbs. Its dysregulation has been implicated in various human diseases, highlighting the importance of RAX in human health and disease.

Genular Protein ID: 170463457

Symbol: RX_HUMAN

Name: Retinal homeobox protein Rx

UniProtKB Accession Codes:

Q9Y2V3 Q86V11

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 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 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: 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: 21697133

Title: Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.

PubMed ID: 21697133

DOI: 10.1167/iovs.11-7479

PubMed ID: 16177791

Title: DNA sequence and analysis of human chromosome 18.

PubMed ID: 16177791

DOI: 10.1038/nature03983

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: 14662654

Title: Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.

PubMed ID: 14662654

DOI: 10.1093/hmg/ddh025

PubMed ID: 24033328

Title: Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

PubMed ID: 24033328

DOI: 10.1111/cge.12275

Sequence Information:

  • Length: 346
  • Mass: 36676
  • Checksum: FEDA196F6A326F31
  • Sequence:
    • MHLPGCAPAM ADGSFSLAGH LLRSPGGSTS RLHSIEAILG FTKDDGILGT FPAERGARGA 
KERDRRLGAR PACPKAPEEG SEPSPPPAPA PAPEYEAPRP YCPKEPGEAR PSPGLPVGPA 
TGEAKLSEEE QPKKKHRRNR TTFTTYQLHE LERAFEKSHY PDVYSREELA GKVNLPEVRV 
QVWFQNRRAK WRRQEKLEVS SMKLQDSPLL SFSRSPPSAT LSPLGAGPGS GGGPAGGALP 
LESWLGPPLP GGGATALQSL PGFGPPAQSL PASYTPPPPP PPFLNSPPLG PGLQPLAPPP 
PSYPCGPGFG DKFPLDEADP RNSSIAALRL KAKEHIQAIG KPWQAL

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.