Details for: RUSC2

Gene ID: 9853

Symbol: RUSC2

Ensembl ID: ENSG00000198853

Description: RUN and SH3 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: ciliary muscle cell (CL1000443)
    Fold Change: 2.97
    Marker Score: 6,523
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.8
    Marker Score: 66,310
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.76
    Marker Score: 2,030
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.75
    Marker Score: 7,144
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.73
    Marker Score: 65,662
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.72
    Marker Score: 105,970
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.71
    Marker Score: 17,609
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.68
    Marker Score: 33,465
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.66
    Marker Score: 6,867
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.65
    Marker Score: 15,557
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.64
    Marker Score: 12,569
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.6
    Marker Score: 15,236
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.59
    Marker Score: 1,155
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.59
    Marker Score: 13,619
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.57
    Marker Score: 6,075
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.56
    Marker Score: 2,992
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.54
    Marker Score: 483
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.53
    Marker Score: 2,367
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.49
    Marker Score: 6,897
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.47
    Marker Score: 3,685
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168,475
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.47
    Marker Score: 21,939
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.46
    Marker Score: 1,458
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.46
    Marker Score: 849
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.44
    Marker Score: 3,391
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 1.38
    Marker Score: 1,049
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.27
    Marker Score: 27,148
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.27
    Marker Score: 1,580
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.18
    Marker Score: 657
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.16
    Marker Score: 1,103
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.15
    Marker Score: 18,011
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.14
    Marker Score: 361
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.14
    Marker Score: 678
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.12
    Marker Score: 37,707
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.11
    Marker Score: 325
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.1
    Marker Score: 19,441
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.09
    Marker Score: 2,221
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.05
    Marker Score: 570
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.03
    Marker Score: 510
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,782
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,006
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,405
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 499
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 453
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.95
    Marker Score: 345
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,411
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.94
    Marker Score: 5,633
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.94
    Marker Score: 1,010
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.93
    Marker Score: 340
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.91
    Marker Score: 366
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5,206
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,732
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.85
    Marker Score: 496
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.85
    Marker Score: 909
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.85
    Marker Score: 404
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.84
    Marker Score: 3,535
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.84
    Marker Score: 312
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.83
    Marker Score: 488
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.82
    Marker Score: 1,671
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.79
    Marker Score: 17,614
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 600
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.78
    Marker Score: 2,234
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.78
    Marker Score: 3,283
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.77
    Marker Score: 595
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1,251
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.76
    Marker Score: 1,023
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.75
    Marker Score: 1,807
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 388
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.75
    Marker Score: 4,808
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.74
    Marker Score: 2,478
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.74
    Marker Score: 892
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 671
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.73
    Marker Score: 281
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.73
    Marker Score: 272
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.73
    Marker Score: 191
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.71
    Marker Score: 882
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.71
    Marker Score: 3,801
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.7
    Marker Score: 23,883
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.69
    Marker Score: 2,470
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.69
    Marker Score: 2,993
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.69
    Marker Score: 774
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.69
    Marker Score: 1,154
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.69
    Marker Score: 382
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 175
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.66
    Marker Score: 437
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.65
    Marker Score: 2,303
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.65
    Marker Score: 916
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.64
    Marker Score: 557
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.64
    Marker Score: 3,361
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.64
    Marker Score: 663
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.64
    Marker Score: 165
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.62
    Marker Score: 201
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.62
    Marker Score: 276
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.62
    Marker Score: 328
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.62
    Marker Score: 1,414
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.61
    Marker Score: 2,990
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.6
    Marker Score: 276

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:** RUSC2 is a single-pass transmembrane protein that belongs to the RUN and SH3 domain-containing family of proteins. Its structure, comprising a run domain and a SH3 domain, suggests a potential role in protein-protein interactions. The gene is highly expressed in cells of the nervous system, including neurons and glial cells, as well as in immune cells such as vascular leptomeningeal cells and GABAergic cortical interneurons. This widespread expression hints at a multifaceted function that may extend beyond the nervous system. **Pathways and Functions:** The pathways associated with RUSC2 are diverse and far-reaching, reflecting its potential involvement in various cellular processes. These include: 1. **Cytoplasmic vesicle formation and regulation**: RUSC2 may play a crucial role in the formation and regulation of cytoplasmic vesicles, which are essential for cellular trafficking and signaling. 2. **Protein binding and interaction**: The SH3 domain of RUSC2 is likely involved in protein binding and interaction, which could influence various cellular processes, including signaling and transcription. 3. **Small GTPase binding**: RUSC2's ability to bind small GTPases may regulate cellular processes such as cell growth, differentiation, and survival. 4. **Extracellular exosome formation**: RUSC2 may be involved in the formation and regulation of extracellular exosomes, which are involved in intercellular communication and immune responses. **Clinical Significance:** While the clinical significance of RUSC2 is still largely unknown, its expression in various cell types and its involvement in multiple pathways suggest potential implications in neurological and immune disorders. Some possible areas of clinical significance include: 1. **Neurological disorders**: RUSC2's expression in neurons and glial cells may be relevant to neurological disorders such as Alzheimer's disease, Parkinson's disease, and multiple sclerosis. 2. **Immune system dysregulation**: RUSC2's involvement in immune cell function and extracellular exosome formation may be relevant to immune system dysregulation, including autoimmune diseases and cancer. 3. **Cancer**: RUSC2's expression in various cell types, including cancer cells, may be relevant to cancer development and progression. In conclusion, the RUN and SH3 domain containing 2 (RUSC2) gene is a complex and multifunctional protein that has far-reaching implications in the immune system and beyond. Further research is needed to fully elucidate its functions and clinical significance, but its discovery highlights the intricate and interconnected nature of cellular processes.

Genular Protein ID: 1757830912

Symbol: RUSC2_HUMAN

Name: RUN and SH3 domain-containing protein 2

UniProtKB Accession Codes:

Q8N2Y8 A2RU62 A7E2A9 O15080 Q5W134 Q641Q6 Q6P1W7

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 ELM 1 EMBL 10 EPD 1 Ensembl 2 GO 4 Gene3D 2 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PRO 1 PROSITE 2 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 2 SAM 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9205841

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

PubMed ID: 9205841

DOI: 10.1093/dnares/4.2.141

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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: 15796781

Title: Identification and characterization of Iporin as a novel interaction partner for rab1.

PubMed ID: 15796781

DOI: 10.1186/1471-2121-6-15

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 27612186

Title: Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.

PubMed ID: 27612186

DOI: 10.1111/dmcn.13250

PubMed ID: 30262884

Title: AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A.

PubMed ID: 30262884

DOI: 10.1038/s41467-018-06172-7

Sequence Information:

  • Length: 1516
  • Mass: 161225
  • Checksum: E96E1180A1E18CF8
  • Sequence:
    • MDSPPKLTGE TLIVHHIPLV HCQVPDRQCC GGAGGGGGST RPNPFCPPEL GITQPDQDLG 
QADSLLFSSL HSTPGGTARS IDSTKSRSRD GRGPGAPKRH NPFLLQEGVG EPGLGDLYDD 
SIGDSATQQS FHLHGTGQPN FHLSSFQLPP SGPRVGRPWG TTRSRAGVVE GQEQEPVMTL 
DTQQCGTSHC CRPELEAETM ELDECGGPGG SGSGGGASDT SGFSFDQEWK LSSDESPRNP 
GCSGSGDQHC RCSSTSSQSE AADQSMGYVS DSSCNSSDGV LVTFSTLYNK MHGTPRANLN 
SAPQSCSDSS FCSHSDPGAF YLDLQPSPFE SKMSYESHHP ESGGREGGYG CPHASSPELD 
ANCNSYRPHC EPCPAVADLT ACFQSQARLV VATQNYYKLV TCDLSSQSSP SPAGSSITSC 
SEEHTKISPP PGPGPDPGPS QPSEYYLFQK PEVQPEEQEA VSSSTQAAAA VGPTVLEGQV 
YTNTSPPNLS TGRQRSRSYD RSLQRSPPVR LGSLERMLSC PVRLSEGPAA MAGPGSPPRR 
VTSFAELAKG RKKTGGSGSP PLRVSVGDSS QEFSPIQEAQ QDRGAPLDEG TCCSHSLPPM 
PLGPGMDLLG PDPSPPWSTQ VCQGPHSSEM PPAGLRATGQ GPLAQLMDPG PALPGSPANS 
HTQRDARARA DGGGTESRPV LRYSKEQRPT TLPIQPFVFQ HHFPKQLAKA RALHSLSQLY 
SLSGCSRTQQ PAPLAAPAAQ VSVPAPSGEP QASTPRATGR GARKAGSEPE TSRPSPLGSY 
SPIRSVGPFG PSTDSSASTS CSPPPEQPTA TESLPPWSHS CPSAVRPATS QQPQKEDQKI 
LTLTEYRLHG TGSLPPLGSW RSGLSRAESL ARGGGEGSMA TRPSNANHLS PQALKWREYR 
RKNPLGPPGL SGSLDRRSQE ARLARRNPIF EFPGSLSAAS HLNCRLNGQA VKPLPLTCPD 
FQDPFSLTEK PPAEFCLSPD GSSEAISIDL LQKKGLVKAV NIAVDLIVAH FGTSRDPGVK 
AKLGNSSVSP NVGHLVLKYL CPAVRAVLED GLKAFVLDVI IGQRKNMPWS VVEASTQLGP 
STKVLHGLYN KVSQFPELTS HTMRFNAFIL GLLNIRSLEF WFNHLYNHED IIQTHYQPWG 
FLSAAHTVCP GLFEELLLLL QPLALLPFSL DLLFQHRLLQ SGQQQRQHKE LLRVSQDLLL 
SAHSTLQLAR ARGQEGPGDV DRAAQGERVK GVGASEGGEE EEEEEETEEV AEAAGGSGRA 
RWARGGQAGW WYQLMQSSQV YIDGSIEGSR FPRGSSNSSS EKKKGAGGGG PPQAPPPREG 
VVEGAEACPA SEEALGRERG WPFWMGSPPD SVLAELRRSR EREGPAASPA ENEEGASEPS 
PGGIKWGHLF GSRKAQREAR PTNRLPSDWL SLDKSMFQLV AQTVGSRREP EPKESLQEPH 
SPALPSSPPC EVQALCHHLA TGPGQLSFHK GDILRVLGRA GGDWLRCSRG PDSGLVPLAY 
VTLTPTPSPT PGSSQN

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.