Details for: ESS2

Gene ID: 8220

Symbol: ESS2

Ensembl ID: ENSG00000100056

Description: ess-2 splicing factor homolog

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: mucosal type mast cell (CL0000485)
    Fold Change: 26.0919
    Cell Significance Index: -10.6000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 11.1967
    Cell Significance Index: -10.6900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.0652
    Cell Significance Index: -10.8900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 2.6277
    Cell Significance Index: 43.3000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.2139
    Cell Significance Index: -6.8000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.4027
    Cell Significance Index: -3.0700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8254
    Cell Significance Index: 81.6500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6152
    Cell Significance Index: 555.4800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5827
    Cell Significance Index: 7.9500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5750
    Cell Significance Index: 34.5200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5217
    Cell Significance Index: 56.7500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4436
    Cell Significance Index: 72.1500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3132
    Cell Significance Index: 9.0300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2719
    Cell Significance Index: 5.8900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2686
    Cell Significance Index: 18.5800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2637
    Cell Significance Index: 13.7000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2314
    Cell Significance Index: 10.4900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.1848
    Cell Significance Index: 4.7200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1788
    Cell Significance Index: 11.2700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1512
    Cell Significance Index: 20.7700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1471
    Cell Significance Index: 26.5100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1463
    Cell Significance Index: 64.6900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1448
    Cell Significance Index: 3.0300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1396
    Cell Significance Index: 3.8000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1367
    Cell Significance Index: 27.4300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1228
    Cell Significance Index: 2.0600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1113
    Cell Significance Index: 21.1800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1084
    Cell Significance Index: 59.2100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0924
    Cell Significance Index: 10.9000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0900
    Cell Significance Index: 5.8100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0867
    Cell Significance Index: 6.1300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0823
    Cell Significance Index: 10.5500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0814
    Cell Significance Index: 4.2400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0776
    Cell Significance Index: 2.2800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0758
    Cell Significance Index: 9.3200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0755
    Cell Significance Index: 3.5200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0645
    Cell Significance Index: 2.2700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0509
    Cell Significance Index: 6.5700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0493
    Cell Significance Index: 17.6800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0461
    Cell Significance Index: 9.1500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0446
    Cell Significance Index: 1.1200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0433
    Cell Significance Index: 3.2300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0399
    Cell Significance Index: 1.3900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0315
    Cell Significance Index: 0.8800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0281
    Cell Significance Index: 0.7400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0243
    Cell Significance Index: 2.7900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.0221
    Cell Significance Index: 0.2400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0141
    Cell Significance Index: 9.7400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0139
    Cell Significance Index: 0.7000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0103
    Cell Significance Index: 0.5400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0023
    Cell Significance Index: 0.0500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0009
    Cell Significance Index: -1.7700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0045
    Cell Significance Index: -8.3300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0068
    Cell Significance Index: -10.4300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0076
    Cell Significance Index: -5.5900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0090
    Cell Significance Index: -12.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0097
    Cell Significance Index: -7.3500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0110
    Cell Significance Index: -1.8700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0117
    Cell Significance Index: -7.4500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0145
    Cell Significance Index: -1.4800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0149
    Cell Significance Index: -11.0700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0180
    Cell Significance Index: -10.1600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0203
    Cell Significance Index: -9.2300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0212
    Cell Significance Index: -13.2600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0238
    Cell Significance Index: -0.2700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0255
    Cell Significance Index: -0.5300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0256
    Cell Significance Index: -0.2700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0310
    Cell Significance Index: -8.9300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0386
    Cell Significance Index: -1.0300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0465
    Cell Significance Index: -1.4900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0514
    Cell Significance Index: -7.4800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0559
    Cell Significance Index: -6.5200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0618
    Cell Significance Index: -2.9100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0630
    Cell Significance Index: -13.2700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0766
    Cell Significance Index: -3.1400
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.0821
    Cell Significance Index: -0.6200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0936
    Cell Significance Index: -7.1800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1017
    Cell Significance Index: -6.2500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1029
    Cell Significance Index: -6.3100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1127
    Cell Significance Index: -11.7300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1280
    Cell Significance Index: -10.1400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1347
    Cell Significance Index: -7.5600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1580
    Cell Significance Index: -4.5300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1922
    Cell Significance Index: -4.9400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1997
    Cell Significance Index: -2.3800
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.2085
    Cell Significance Index: -0.4700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2100
    Cell Significance Index: -9.2900
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2190
    Cell Significance Index: -3.0700
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.2270
    Cell Significance Index: -3.1500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2501
    Cell Significance Index: -9.4700
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.2604
    Cell Significance Index: -3.2900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2608
    Cell Significance Index: -4.8200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2730
    Cell Significance Index: -8.0400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2783
    Cell Significance Index: -9.7500
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.2798
    Cell Significance Index: -4.0100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2800
    Cell Significance Index: -10.2800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2862
    Cell Significance Index: -9.1200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2929
    Cell Significance Index: -9.5900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.3012
    Cell Significance Index: -2.5300
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3194
    Cell Significance Index: -7.3800

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:** 1. **RNA Splicing**: ESS2 is a spliceosomal component that participates in the catalytic step 2 of the spliceosome, a complex molecular machinery responsible for the precise splicing of pre-mRNA into mature mRNA. 2. **Nervous System Development**: ESS2 is significantly expressed in the cerebral cortex and forebrain, where it plays a crucial role in the development of GABAergic interneurons, which are essential for regulating neural activity. 3. **Cellular Specificity**: ESS2 is expressed in various cell types, including respiratory basal cells, germ cells, oogonial cells, and intestinal crypt stem cells, highlighting its importance in different cellular processes. 4. **Protein Binding**: ESS2 interacts with other proteins, including F8WEF8, to regulate RNA splicing and cellular processes. **Pathways and Functions:** 1. **Catalytic Step 2 Spliceosome**: ESS2 participates in the catalytic step 2 of the spliceosome, which is responsible for the precise splicing of pre-mRNA into mature mRNA. 2. **Molecular Function**: ESS2 regulates RNA splicing, which is essential for the production of functional proteins. 3. **Nervous System Development**: ESS2 plays a crucial role in the development of GABAergic interneurons, which are essential for regulating neural activity. 4. **Nucleus**: ESS2 is localized to the nucleus, where it interacts with other proteins to regulate RNA splicing and cellular processes. **Clinical Significance:** 1. **DiGeorge Syndrome**: ESS2 has been implicated in DiGeorge syndrome, a genetic disorder characterized by congenital heart defects, cleft palate, and immunodeficiency. 2. **Immunodeficiency**: Dysregulation of ESS2 has been linked to immunodeficiency, highlighting its importance in immune system development and function. 3. **Cancer**: ESS2 has been implicated in various cancers, including ovarian cancer, where it plays a role in tumor progression and metastasis. 4. **Neurological Disorders**: ESS2 has been linked to various neurological disorders, including autism spectrum disorder and schizophrenia, where it plays a role in neural development and function. In conclusion, the ESS2 gene is a crucial component of the spliceosome, regulating RNA splicing, nervous system development, and cellular processes. Its dysregulation has been linked to various diseases, including DiGeorge syndrome, immunodeficiency, cancer, and neurological disorders. Further research is necessary to fully elucidate the role of ESS2 in human disease and to develop novel therapeutic strategies to target this gene.

Genular Protein ID: 2178157348

Symbol: ESS2_HUMAN

Name: DiGeorge syndrome critical region 13

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8786095

Title: A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.

PubMed ID: 8786095

DOI: 10.1006/geno.1996.0082

PubMed ID: 8703114

Title: Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans.

PubMed ID: 8703114

DOI: 10.1007/s003359900197

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 8776594

Title: A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.

PubMed ID: 8776594

DOI: 10.1093/hmg/5.6.789

PubMed ID: 11991638

Title: Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.

PubMed ID: 11991638

DOI: 10.1017/s1355838202021088

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 34694367

Title: Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

PubMed ID: 34694367

DOI: 10.1093/brain/awab403

PubMed ID: 9063747

Title: Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.

PubMed ID: 9063747

DOI: 10.1093/hmg/6.2.267

Sequence Information:

  • Length: 476
  • Mass: 52568
  • Checksum: 4B1AAB7932789D73
  • Sequence:
  • METPGASASS LLLPAASRPP RKREAGEAGA ATSKQRVLDE EEYIEGLQTV IQRDFFPDVE 
    KLQAQKEYLE AEENGDLERM RQIAIKFGSA LGKMSREPPP PYVTPATFET PEVHAGTGVV 
    GNKPRPRGRG LEDGEAGEEE EKEPLPSLDV FLSRYTSEDN ASFQEIMEVA KERSRARHAW 
    LYQAEEEFEK RQKDNLELPS AEHQAIESSQ ASVETWKYKA KNSLMYYPEG VPDEEQLFKK 
    PRQVVHKNTR FLRDPFSQAL SRCQLQQAAA LNAQHKQGKV GPDGKELIPQ ESPRVGGFGF 
    VATPSPAPGV NESPMMTWGE VENTPLRVEG SETPYVDRTP GPAFKILEPG RRERLGLKMA 
    NEAAAKNRAK KQEALRRVTE NLASLTPKGL SPAMSPALQR LVSRTASKYT DRALRASYTP 
    SPARSTHLKT PASGLQTPTS TPAPGSATRT PLTQDPASIT DNLLQLPARR KASDFF

Genular Protein ID: 1150605029

Symbol: F8WEF8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 18477386

Title: Finishing the finished human chromosome 22 sequence.

PubMed ID: 18477386

DOI: 10.1186/gb-2008-9-5-r78

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 23186163

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

PubMed ID: 23186163

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

Sequence Information:

  • Length: 293
  • Mass: 32814
  • Checksum: FB1C0023D447E48E
  • Sequence:
  • METPGASASS LLLPAASRPP RKREAGEAGA ATSKQRVLDE EEYIEGLQTV IQRDFFPDVE 
    KLQAQKEYLE AEENGDLERM RQIAIKFGSA LGKMSREPPP PYVTPATFET PEVHAGTGVV 
    GNKPRPRGRG LEDGEAGEEE EKEPLPSLDV FLSRYTSEDN ASFQEIMEVA KERSRARHAW 
    LYQAEEEFEK RQKDNLELPS AEHQAIESSQ ASVETWKYKA KNSLMYYPEG VPDEEQLFKK 
    PRQVVHKNTR FLRDPFSQAL SRCQLQQAAA LNAQGPSLSF SKKAANPRAP ALP

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.