Details for: RHOBTB2

Gene ID: 23221

Symbol: RHOBTB2

Ensembl ID: ENSG00000008853

Description: Rho related BTB domain containing 2

Associated with

Cells (max top 100)

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

  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.86
    Marker Score: 2,984
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.84
    Marker Score: 12,005
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.75
    Marker Score: 510
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.58
    Marker Score: 97,089
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.38
    Marker Score: 5,771
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.36
    Marker Score: 2,104
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.35
    Marker Score: 1,632
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.31
    Marker Score: 21,034
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.31
    Marker Score: 20,440
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.24
    Marker Score: 558
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.17
    Marker Score: 11,154
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.12
    Marker Score: 381
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.11
    Marker Score: 10,474
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.06
    Marker Score: 1,225
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.01
    Marker Score: 10,203
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1
    Marker Score: 4,140
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,794
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,019
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.99
    Marker Score: 2,325
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.98
    Marker Score: 8,451
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,405
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 497
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 450
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,411
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.92
    Marker Score: 1,867
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,732
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.9
    Marker Score: 5,157
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 317
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.88
    Marker Score: 13,118
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,295
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.84
    Marker Score: 264
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.82
    Marker Score: 4,298
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.8
    Marker Score: 482
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.78
    Marker Score: 28,864
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,261
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.77
    Marker Score: 1,039
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 585
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.76
    Marker Score: 5,829
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.75
    Marker Score: 360
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.75
    Marker Score: 4,470
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 684
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 386
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.75
    Marker Score: 240
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3,049
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 289
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.69
    Marker Score: 7,162
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.68
    Marker Score: 1,846
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.65
    Marker Score: 697
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.64
    Marker Score: 3,860
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.64
    Marker Score: 13,639
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.63
    Marker Score: 680
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.61
    Marker Score: 12,195
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.6
    Marker Score: 22,928
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.6
    Marker Score: 252
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.6
    Marker Score: 516
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.58
    Marker Score: 2,365
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 438
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.55
    Marker Score: 349
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.54
    Marker Score: 2,083
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.54
    Marker Score: 266
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.54
    Marker Score: 594
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.54
    Marker Score: 198
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.53
    Marker Score: 820
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.51
    Marker Score: 1,121
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.51
    Marker Score: 539
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.49
    Marker Score: 135
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.49
    Marker Score: 286
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.48
    Marker Score: 280
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.48
    Marker Score: 124
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.47
    Marker Score: 567
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.46
    Marker Score: 1,805
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.44
    Marker Score: 197
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.44
    Marker Score: 1,576
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.44
    Marker Score: 1,313
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.44
    Marker Score: 699
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.44
    Marker Score: 289
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.44
    Marker Score: 2,843
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.43
    Marker Score: 342
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.42
    Marker Score: 9,424
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.42
    Marker Score: 133
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.4
    Marker Score: 219
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.4
    Marker Score: 326
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.4
    Marker Score: 120
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.39
    Marker Score: 577
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.38
    Marker Score: 460
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.38
    Marker Score: 685
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.37
    Marker Score: 279
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.36
    Marker Score: 359
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.35
    Marker Score: 112
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.35
    Marker Score: 238
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.35
    Marker Score: 158
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.34
    Marker Score: 1,584
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.34
    Marker Score: 4,540
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.33
    Marker Score: 666
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.33
    Marker Score: 66
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.33
    Marker Score: 75
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.33
    Marker Score: 568
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.32
    Marker Score: 86
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.32
    Marker Score: 492

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** RHOBTB2 is a member of the BTB domain-containing protein family, which is characterized by the presence of a BTB domain, a conserved protein-protein interaction domain. This domain is critical for the protein's ability to interact with other proteins and regulate cellular processes. RHOBTB2 is specifically involved in the regulation of the Rho GTPase cycle, which plays a crucial role in various cellular processes, including cell migration, proliferation, and apoptosis. **Pathways and Functions:** RHOBTB2 is involved in several signaling pathways, including: 1. **Actin filament organization**: RHOBTB2 regulates the organization of actin filaments, which is essential for maintaining cellular shape and structure. 2. **Cdc42 protein signal transduction**: RHOBTB2 interacts with Cdc42, a Rho GTPase, to regulate its activity and downstream signaling pathways. 3. **Endocytosis**: RHOBTB2 regulates the formation and dynamics of endosomes, which is critical for protein and lipid trafficking within the cell. 4. **Establishment or maintenance of cell polarity**: RHOBTB2 plays a role in maintaining cellular polarity, which is essential for proper cell function and tissue organization. 5. **GTPase activity**: RHOBTB2 regulates the activity of GTPases, including Rho GTPases, which are involved in various cellular processes. **Clinical Significance:** RHOBTB2 has been implicated in various diseases, including: 1. **Respiratory diseases**: RHOBTB2 is highly expressed in pneumocytes and type II pneumocytes, which are essential for maintaining lung function. Alterations in RHOBTB2 expression have been linked to respiratory diseases, such as chronic obstructive pulmonary disease (COPD) and asthma. 2. **Neurological disorders**: RHOBTB2 has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, where it regulates the organization of actin filaments and the dynamics of endosomes. 3. **Cancer**: RHOBTB2 has been found to be overexpressed in various types of cancer, including breast cancer and lung cancer, where it regulates cell migration and invasion. In conclusion, RHOBTB2 is a critical regulator of cellular processes, including actin filament organization, endocytosis, and cell polarity. Its dysregulation has been implicated in various diseases, highlighting the importance of RHOBTB2 in maintaining cellular homeostasis and its potential as a therapeutic target for disease prevention and treatment.

Genular Protein ID: 3815896268

Symbol: RHBT2_HUMAN

Name: Rho-related BTB domain-containing protein 2

UniProtKB Accession Codes:

Q9BYZ6 A8K9Z8 D3DSR8 E9PBU2 E9PEI7 O94825 Q8N4A8 Q9BZK6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 4 CTD 1 ChEBI 3 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 3 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 1 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 3 RNAct 1 Reactome 1 RefSeq 4 SAM 1 SMART 4 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 12426103

Title: Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse.

PubMed ID: 12426103

DOI: 10.1016/s0378-1119(02)00980-0

PubMed ID: 9872452

Title: Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 9872452

DOI: 10.1093/dnares/5.5.277

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

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: 26517842

Title: Client proteins and small molecule inhibitors display distinct binding preferences for constitutive and stress-induced HSP90 isoforms and their conformationally restricted mutants.

PubMed ID: 26517842

DOI: 10.1371/journal.pone.0141786

PubMed ID: 26740508

Title: Identification of novel genetic causes of Rett syndrome-like phenotypes.

PubMed ID: 26740508

DOI: 10.1136/jmedgenet-2015-103568

PubMed ID: 29276004

Title: Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila.

PubMed ID: 29276004

DOI: 10.1016/j.ajhg.2017.11.008

PubMed ID: 29768694

Title: De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.

PubMed ID: 29768694

DOI: 10.1002/humu.23550

Sequence Information:

  • Length: 727
  • Mass: 82626
  • Checksum: 25C7493B2894A1B3
  • Sequence:
    • MDSDMDYERP NVETIKCVVV GDNAVGKTRL ICARACNATL TQYQLLATHV PTVWAIDQYR 
VCQEVLERSR DVVDDVSVSL RLWDTFGDHH KDRRFAYGRS DVVVLCFSIA NPNSLHHVKT 
MWYPEIKHFC PRAPVILVGC QLDLRYADLE AVNRARRPLA RPIKPNEILP PEKGREVAKE 
LGIPYYETSV VAQFGIKDVF DNAIRAALIS RRHLQFWKSH LRNVQRPLLQ APFLPPKPPP 
PIIVVPDPPS SSEECPAHLL EDPLCADVIL VLQERVRIFA HKIYLSTSSS KFYDLFLMDL 
SEGELGGPSE PGGTHPEDHQ GHSDQHHHHH HHHHGRDFLL RAASFDVCES VDEAGGSGPA 
GLRASTSDGI LRGNGTGYLP GRGRVLSSWS RAFVSIQEEM AEDPLTYKSR LMVVVKMDSS 
IQPGPFRAVL KYLYTGELDE NERDLMHIAH IAELLEVFDL RMMVANILNN EAFMNQEITK 
AFHVRRTNRV KECLAKGTFS DVTFILDDGT ISAHKPLLIS SCDWMAAMFG GPFVESSTRE 
VVFPYTSKSC MRAVLEYLYT GMFTSSPDLD DMKLIILANR LCLPHLVALT EQYTVTGLME 
ATQMMVDIDG DVLVFLELAQ FHCAYQLADW CLHHICTNYN NVCRKFPRDM KAMSPENQEY 
FEKHRWPPVW YLKEEDHYQR ARKEREKEDY LHLKRQPKRR WLFWNSPSSP SSSAASSSSP 
SSSSAVV

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.