Details for: FANCE

Gene ID: 2178

Symbol: FANCE

Ensembl ID: ENSG00000112039

Description: FA complementation group E

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 35.0380
    Cell Significance Index: -5.4500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 21.8811
    Cell Significance Index: -5.5500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 13.0213
    Cell Significance Index: -5.2900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 5.6560
    Cell Significance Index: -5.4000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.6555
    Cell Significance Index: -5.7400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.3741
    Cell Significance Index: -6.3600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.5396
    Cell Significance Index: 25.3700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.2555
    Cell Significance Index: 76.9800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6498
    Cell Significance Index: 64.2800
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.6254
    Cell Significance Index: 1.4100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5963
    Cell Significance Index: 96.9900
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.5520
    Cell Significance Index: 3.4300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4561
    Cell Significance Index: 27.3800
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.4318
    Cell Significance Index: 3.2600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3779
    Cell Significance Index: 41.1100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.3397
    Cell Significance Index: 9.0700
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.3285
    Cell Significance Index: 4.6100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2891
    Cell Significance Index: 8.3300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2413
    Cell Significance Index: 217.8800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2243
    Cell Significance Index: 11.6500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1743
    Cell Significance Index: 9.0800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1539
    Cell Significance Index: 4.3000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1522
    Cell Significance Index: 10.5300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1299
    Cell Significance Index: 5.8900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1236
    Cell Significance Index: 14.4000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1208
    Cell Significance Index: 53.4100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1106
    Cell Significance Index: 19.9500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1103
    Cell Significance Index: 2.3900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1037
    Cell Significance Index: 19.7400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0946
    Cell Significance Index: 1.9800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0945
    Cell Significance Index: 1.9600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0915
    Cell Significance Index: 18.1600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0810
    Cell Significance Index: 9.9600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0797
    Cell Significance Index: 2.8000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0723
    Cell Significance Index: 1.5400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0720
    Cell Significance Index: 5.0900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0518
    Cell Significance Index: 0.7800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0456
    Cell Significance Index: 1.2400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0427
    Cell Significance Index: 2.6900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0410
    Cell Significance Index: 22.4100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0370
    Cell Significance Index: 2.3900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0341
    Cell Significance Index: 4.6800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0292
    Cell Significance Index: 0.7300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0231
    Cell Significance Index: 4.6300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0199
    Cell Significance Index: 0.9300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0179
    Cell Significance Index: 0.3000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.0175
    Cell Significance Index: 0.1900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0138
    Cell Significance Index: 9.5300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0099
    Cell Significance Index: 3.5400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0068
    Cell Significance Index: 12.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0035
    Cell Significance Index: 0.4500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0011
    Cell Significance Index: 1.7000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0004
    Cell Significance Index: -0.6900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0018
    Cell Significance Index: -2.4700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0021
    Cell Significance Index: -0.0600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0040
    Cell Significance Index: -3.0500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0060
    Cell Significance Index: -3.7800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0075
    Cell Significance Index: -5.4700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0087
    Cell Significance Index: -6.4200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0088
    Cell Significance Index: -4.0100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0101
    Cell Significance Index: -1.4700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0104
    Cell Significance Index: -1.2300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0118
    Cell Significance Index: -6.6400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0137
    Cell Significance Index: -0.4800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0138
    Cell Significance Index: -8.6400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0145
    Cell Significance Index: -2.4700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0156
    Cell Significance Index: -4.5000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0211
    Cell Significance Index: -0.2700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0217
    Cell Significance Index: -1.2200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0253
    Cell Significance Index: -1.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0261
    Cell Significance Index: -3.3700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0266
    Cell Significance Index: -0.8500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0271
    Cell Significance Index: -0.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0298
    Cell Significance Index: -1.8300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0327
    Cell Significance Index: -6.8900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0329
    Cell Significance Index: -3.7700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0382
    Cell Significance Index: -3.9000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0442
    Cell Significance Index: -1.1900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0474
    Cell Significance Index: -3.6400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0490
    Cell Significance Index: -5.1000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0527
    Cell Significance Index: -0.4300
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.0562
    Cell Significance Index: -0.7800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0575
    Cell Significance Index: -0.6000
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0642
    Cell Significance Index: -0.6100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0677
    Cell Significance Index: -1.8100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0686
    Cell Significance Index: -4.6100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0719
    Cell Significance Index: -1.0300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0724
    Cell Significance Index: -3.8000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0740
    Cell Significance Index: -5.8600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0766
    Cell Significance Index: -5.7100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0785
    Cell Significance Index: -2.2500
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0830
    Cell Significance Index: -1.1900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0861
    Cell Significance Index: -2.2000
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1010
    Cell Significance Index: -0.6100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1034
    Cell Significance Index: -2.7200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1092
    Cell Significance Index: -2.3900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1100
    Cell Significance Index: -5.5600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1219
    Cell Significance Index: -3.5900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.1238
    Cell Significance Index: -1.0400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1245
    Cell Significance Index: -5.1000

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. **DNA Repair Function:** FANCE is involved in the repair of interstrand cross-links, a type of DNA damage that can lead to genomic instability and cancer. 2. **Immune System Regulation:** FANCE modulates cytokine signaling and interferon responses, influencing immune cell function and overall immune homeostasis. 3. **Widespread Expression:** FANCE is expressed in a variety of cell types, including germ cells, immune cells, and epithelial tissues. 4. **Interstrand Cross-Link Repair:** FANCE's ability to repair interstrand cross-links is essential for maintaining genome stability and preventing cancer. **Pathways and Functions:** 1. **Antiviral Mechanism:** FANCE's role in regulating cytokine signaling and interferon responses makes it a crucial component in the antiviral response. 2. **Centrosome and Chromatin Regulation:** FANCE's involvement in chromatin dynamics and centrosome function highlights its importance in maintaining genome stability. 3. **DNA Repair Pathways:** FANCE's ability to repair interstrand cross-links is a key component of the DNA repair machinery. 4. **Immune System Signaling:** FANCE modulates cytokine signaling and interferon responses, influencing immune cell function and overall immune homeostasis. **Clinical Significance:** 1. **Cancers:** Dysregulation of FANCE has been linked to various cancers, including Fanconi anemia, a rare genetic disorder characterized by bone marrow failure and increased cancer susceptibility. 2. **Immunodeficiencies:** FANCE's role in regulating immune cell function makes it a potential target for the treatment of immunodeficiencies. 3. **Genetic Disorders:** FANCE mutations have been associated with other genetic disorders, including hereditary cancer syndromes and congenital anomalies. 4. **Oxidative Stress:** FANCE's involvement in interstrand cross-link repair highlights its importance in maintaining genome stability in the face of oxidative stress. In conclusion, FANCE is a complex gene that plays a critical role in maintaining genomic stability, regulating immune function, and responding to oxidative stress. Further research is necessary to fully elucidate the mechanisms by which FANCE functions and to explore its potential as a therapeutic target for various diseases.

Genular Protein ID: 918728209

Symbol: FANCE_HUMAN

Name: Fanconi anemia group E protein

UniProtKB Accession Codes:

Q9HB96 A8K907 Q4ZGH2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EMDB 6 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11001585

Title: Isolation of a cDNA representing the Fanconi anemia complementation group E gene.

PubMed ID: 11001585

DOI: 10.1016/s0002-9297(07)62959-0

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 12093742

Title: FANCE: the link between Fanconi anaemia complex assembly and activity.

PubMed ID: 12093742

DOI: 10.1093/emboj/cdf355

PubMed ID: 12649160

Title: Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems.

PubMed ID: 12649160

DOI: 10.1182/blood-2002-11-3517

PubMed ID: 12724401

Title: A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.

PubMed ID: 12724401

DOI: 10.1128/mcb.23.10.3417-3426.2003

PubMed ID: 15502827

Title: X-linked inheritance of Fanconi anemia complementation group B.

PubMed ID: 15502827

DOI: 10.1038/ng1458

PubMed ID: 16116422

Title: A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.

PubMed ID: 16116422

DOI: 10.1038/ng1626

PubMed ID: 17296736

Title: Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway.

PubMed ID: 17296736

DOI: 10.1128/mcb.02357-06

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22266823

Title: Regulation of Rev1 by the Fanconi anemia core complex.

PubMed ID: 22266823

DOI: 10.1038/nsmb.2222

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 17924555

Title: Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PubMed ID: 17924555

DOI: 10.1002/humu.20625

Sequence Information:

  • Length: 536
  • Mass: 58711
  • Checksum: 0E94D8C469C791A5
  • Sequence:
    • MATPDAGLPG AEGVEPAPWA QLEAPARLLL QALQAGPEGA RRGLGVLRAL GSRGWEPFDW 
GRLLEALCRE EPVVQGPDGR LELKPLLLRL PRICQRNLMS LLMAVRPSLP ESGLLSVLQI 
AQQDLAPDPD AWLRALGELL RRDLGVGTSM EGASPLSERC QRQLQSLCRG LGLGGRRLKS 
PQAPDPEEEE NRDSQQPGKR RKDSEEEAAS PEGKRVPKRL RCWEEEEDHE KERPEHKSLE 
SLADGGSASP IKDQPVMAVK TGEDGSNLDD AKGLAESLEL PKAIQDQLPR LQQLLKTLEE 
GLEGLEDAPP VELQLLHECS PSQMDLLCAQ LQLPQLSDLG LLRLCTWLLA LSPDLSLSNA 
TVLTRSLFLG RILSLTSSAS RLLTTALTSF CAKYTYPVCS ALLDPVLQAP GTGPAQTELL 
CCLVKMESLE PDAQVLMLGQ ILELPWKEET FLVLQSLLER QVEMTPEKFS VLMEKLCKKG 
LAATTSMAYA KLMLTVMTKY QANITETQRL GLAMALEPNT TFLRKSLKAA LKHLGP

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.