Details for: RP2

Gene ID: 6102

Symbol: RP2

Ensembl ID: ENSG00000102218

Description: RP2 activator of ARL3 GTPase

Associated with

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: embryonic stem cell (CL0002322)
    Fold Change: 34.6646
    Cell Significance Index: -14.2800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 30.2025
    Cell Significance Index: -12.2700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 26.5949
    Cell Significance Index: -13.6800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 12.9668
    Cell Significance Index: -12.3800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.6410
    Cell Significance Index: -5.7800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.6254
    Cell Significance Index: 499.6400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.4335
    Cell Significance Index: 99.1400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.1808
    Cell Significance Index: 31.5300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.1182
    Cell Significance Index: 110.6200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0765
    Cell Significance Index: 175.0800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.9616
    Cell Significance Index: 13.1200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.9501
    Cell Significance Index: 17.5600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7395
    Cell Significance Index: 80.4400
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.6627
    Cell Significance Index: 10.9200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5073
    Cell Significance Index: 10.9900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4568
    Cell Significance Index: 13.1600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3733
    Cell Significance Index: 19.3900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3482
    Cell Significance Index: 22.4700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3468
    Cell Significance Index: 15.7200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3217
    Cell Significance Index: 4.8200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2436
    Cell Significance Index: 28.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2267
    Cell Significance Index: 12.7200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2158
    Cell Significance Index: 42.8200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1948
    Cell Significance Index: 5.2100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1779
    Cell Significance Index: 32.0700
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.1632
    Cell Significance Index: 2.2900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1544
    Cell Significance Index: 9.7300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.1482
    Cell Significance Index: 15.1400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1324
    Cell Significance Index: 16.2800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1235
    Cell Significance Index: 2.6300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1197
    Cell Significance Index: 65.4000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1106
    Cell Significance Index: 3.1700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1062
    Cell Significance Index: 21.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1002
    Cell Significance Index: 2.8000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0895
    Cell Significance Index: 12.2900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0823
    Cell Significance Index: 11.9600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0736
    Cell Significance Index: 26.3900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0631
    Cell Significance Index: 27.9000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0583
    Cell Significance Index: 7.4700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0370
    Cell Significance Index: 1.3000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0349
    Cell Significance Index: 1.8200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0337
    Cell Significance Index: 23.2900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0210
    Cell Significance Index: 0.4400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0086
    Cell Significance Index: 0.5300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0033
    Cell Significance Index: 6.2200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0009
    Cell Significance Index: -0.5500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0010
    Cell Significance Index: -1.3100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0042
    Cell Significance Index: -6.4200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0045
    Cell Significance Index: -8.2900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0108
    Cell Significance Index: -8.2100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0147
    Cell Significance Index: -10.7800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0148
    Cell Significance Index: -11.0000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0175
    Cell Significance Index: -7.9600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0189
    Cell Significance Index: -2.1700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0242
    Cell Significance Index: -13.6600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0246
    Cell Significance Index: -15.3400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0322
    Cell Significance Index: -1.5000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0332
    Cell Significance Index: -5.6700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0481
    Cell Significance Index: -13.8500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0507
    Cell Significance Index: -2.3900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0536
    Cell Significance Index: -4.1100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0650
    Cell Significance Index: -7.5700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0703
    Cell Significance Index: -5.2400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0745
    Cell Significance Index: -15.7000
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0782
    Cell Significance Index: -0.5100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0789
    Cell Significance Index: -10.1900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1172
    Cell Significance Index: -3.1900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1271
    Cell Significance Index: -13.2300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1278
    Cell Significance Index: -3.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1459
    Cell Significance Index: -9.8100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1476
    Cell Significance Index: -2.8800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1489
    Cell Significance Index: -9.1300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1580
    Cell Significance Index: -2.5400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1592
    Cell Significance Index: -12.6100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1640
    Cell Significance Index: -2.8100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1699
    Cell Significance Index: -3.7200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2102
    Cell Significance Index: -1.2700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2164
    Cell Significance Index: -6.9300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2238
    Cell Significance Index: -9.9000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2243
    Cell Significance Index: -3.3800
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.2283
    Cell Significance Index: -3.2500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2338
    Cell Significance Index: -2.4200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2369
    Cell Significance Index: -6.0900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2483
    Cell Significance Index: -8.6300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2557
    Cell Significance Index: -2.3600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2591
    Cell Significance Index: -4.3700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2736
    Cell Significance Index: -10.3600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2749
    Cell Significance Index: -4.6000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2776
    Cell Significance Index: -14.5800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2800
    Cell Significance Index: -10.2800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2993
    Cell Significance Index: -8.7900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3293
    Cell Significance Index: -3.9300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3299
    Cell Significance Index: -4.8700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3325
    Cell Significance Index: -6.9600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3557
    Cell Significance Index: -8.5300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3640
    Cell Significance Index: -12.7500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3735
    Cell Significance Index: -12.2300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3742
    Cell Significance Index: -9.5600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3748
    Cell Significance Index: -8.6600

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:** RP2 is a small protein (approximately 20 kDa) that belongs to the Rho GTPase activating protein (RhoGAP) family. It is specifically expressed in cells involved in cilia formation and function, including classical monocytes, choroid plexus epithelial cells, and myeloid dendritic cells. RP2 exhibits a high degree of specificity, with its expression restricted to cells that express the ARL3 GTPase, which is a key regulator of cilia assembly and maintenance. **Pathways and Functions:** RP2 plays a critical role in regulating the ARL3 GTPase, which is involved in the assembly and maintenance of cilia. The ARL3 GTPase is a key regulator of the ciliary motor protein, dynein, which is essential for ciliary movement and function. RP2 acts as a GTPase activator, accelerating the hydrolysis of GTP to GDP, thereby regulating the activity of the ARL3 GTPase. This regulatory mechanism is crucial for maintaining the stability and function of cilia. RP2 also participates in the regulation of the post-chaperonin tubulin folding pathway, which is involved in the assembly of cilia. Additionally, RP2 is involved in the trafficking of myristoylated proteins to the cilium, which is essential for the maintenance of ciliary function. **Clinical Significance:** Dysregulation of RP2 has been implicated in several diseases, including: 1. **Leber Congenital Amaurosis (LCA)**: RP2 mutations have been identified as a common cause of LCA, a severe form of childhood blindness. 2. **Neurodegenerative disorders**: RP2 has been implicated in the pathogenesis of neurodegenerative disorders, including Parkinson's disease and amyotrophic lateral sclerosis (ALS). 3. **Immune function**: RP2 has been shown to play a critical role in the regulation of immune function, particularly in the context of cilia-mediated immune responses. In conclusion, RP2 is a critical regulator of cilia formation and function, and its dysregulation has significant implications for human health. Further research is necessary to fully elucidate the mechanisms by which RP2 regulates cilia function and to explore its therapeutic potential in the treatment of diseases associated with cilia dysfunction.

Genular Protein ID: 2219803352

Symbol: XRP2_HUMAN

Name: Protein XRP2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9697692

Title: Positional cloning of the gene for X-linked retinitis pigmentosa 2.

PubMed ID: 9697692

DOI: 10.1038/1214

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25255805

Title: Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.

PubMed ID: 25255805

DOI: 10.1038/ncomms5919

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 10942419

Title: Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.

PubMed ID: 10942419

DOI: 10.1093/hmg/9.13.1919

PubMed ID: 11847227

Title: Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.

PubMed ID: 11847227

DOI: 10.1074/jbc.m200128200

PubMed ID: 12417528

Title: Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.

PubMed ID: 12417528

DOI: 10.1093/hmg/11.24.3065

PubMed ID: 18588884

Title: Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex.

PubMed ID: 18588884

DOI: 10.1016/j.febslet.2008.05.053

PubMed ID: 20106869

Title: The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.

PubMed ID: 20106869

DOI: 10.1093/hmg/ddq012

PubMed ID: 22085962

Title: An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium.

PubMed ID: 22085962

DOI: 10.1101/gad.173443.111

PubMed ID: 16472755

Title: Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.

PubMed ID: 16472755

DOI: 10.1016/j.str.2005.11.008

PubMed ID: 18376416

Title: The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3.

PubMed ID: 18376416

DOI: 10.1038/nsmb.1396

PubMed ID: 10090907

Title: Mutations in the RP2 gene cause disease in 10% of families with familial X-Linked retinitis pigmentosa assessed in this study.

PubMed ID: 10090907

DOI: 10.1086/302325

PubMed ID: 10520237

Title: Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).

PubMed ID: 10520237

DOI: 10.1076/opge.20.3.161.2278

PubMed ID: 10862093

Title: Novel frameshift mutations in the RP2 gene and polymorphic variants.

PubMed ID: 10862093

DOI: 10.1002/1098-1004(200006)15:6<580::aid-humu15>3.0.co;2-3

PubMed ID: 10634633

Title: A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.

PubMed ID: 10634633

PubMed ID: 10937588

Title: X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

PubMed ID: 10937588

PubMed ID: 11462235

Title: Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

PubMed ID: 11462235

DOI: 10.1002/humu.1160

PubMed ID: 11992260

Title: A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

PubMed ID: 11992260

DOI: 10.1086/340848

PubMed ID: 14564670

Title: RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

PubMed ID: 14564670

DOI: 10.1086/379379

PubMed ID: 12657579

Title: X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

PubMed ID: 12657579

DOI: 10.1167/iovs.02-0605

PubMed ID: 22334370

Title: Next-generation genetic testing for retinitis pigmentosa.

PubMed ID: 22334370

DOI: 10.1002/humu.22045

PubMed ID: 27535533

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

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 350
  • Mass: 39641
  • Checksum: 3C912B52C53A817E
  • Sequence:
  • MGCFFSKRRK ADKESRPENE EERPKQYSWD QREKVDPKDY MFSGLKDETV GRLPGTVAGQ 
    QFLIQDCENC NIYIFDHSAT VTIDDCTNCI IFLGPVKGSV FFRNCRDCKC TLACQQFRVR 
    DCRKLEVFLC CATQPIIESS SNIKFGCFQW YYPELAFQFK DAGLSIFNNT WSNIHDFTPV 
    SGELNWSLLP EDAVVQDYVP IPTTEELKAV RVSTEANRSI VPISRGQRQK SSDESCLVVL 
    FAGDYTIANA RKLIDEMVGK GFFLVQTKEV SMKAEDAQRV FREKAPDFLP LLNKGPVIAL 
    EFNGDGAVEV CQLIVNEIFN GTKMFVSESK ETASGDVDSF YNFADIQMGI

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.