Details for: FANCE

Gene ID: 2178

Symbol: FANCE

Ensembl ID: ENSG00000112039

Description: FA complementation group E

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.6
    Marker Score: 2792
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.06
    Marker Score: 2201.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71814
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48039
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.96
    Marker Score: 1962
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 497
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 452
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.94
    Marker Score: 14720
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.92
    Marker Score: 1745.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5227
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2734
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 317
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5281
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.83
    Marker Score: 826
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.78
    Marker Score: 972
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.77
    Marker Score: 509
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 688
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 387
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.72
    Marker Score: 1042
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.68
    Marker Score: 521
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.67
    Marker Score: 269
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.66
    Marker Score: 2758
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.66
    Marker Score: 394
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.63
    Marker Score: 2486
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.63
    Marker Score: 182
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.54
    Marker Score: 259
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.44
    Marker Score: 141
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.37
    Marker Score: 1049
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.37
    Marker Score: 162
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.35
    Marker Score: 110
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.33
    Marker Score: 164
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.31
    Marker Score: 296
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.31
    Marker Score: 199
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.31
    Marker Score: 97
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.3
    Marker Score: 713
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.3
    Marker Score: 204
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.28
    Marker Score: 98
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.28
    Marker Score: 73
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.27
    Marker Score: 72
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.27
    Marker Score: 290
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.27
    Marker Score: 128
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.26
    Marker Score: 264
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.25
    Marker Score: 104
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.24
    Marker Score: 56
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.24
    Marker Score: 273
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.23
    Marker Score: 260
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.23
    Marker Score: 183
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.23
    Marker Score: 1470
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.22
    Marker Score: 224
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.22
    Marker Score: 288
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.22
    Marker Score: 210
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 62
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.22
    Marker Score: 230
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.22
    Marker Score: 1893
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.22
    Marker Score: 227
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 71
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.21
    Marker Score: 130
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.2
    Marker Score: 126
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.19
    Marker Score: 58
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.19
    Marker Score: 78
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.19
    Marker Score: 47
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.19
    Marker Score: 446
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.19
    Marker Score: 1393
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.18
    Marker Score: 904
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.18
    Marker Score: 84
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.18
    Marker Score: 675
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.18
    Marker Score: 136
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.18
    Marker Score: 60
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.17
    Marker Score: 71
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.17
    Marker Score: 160
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.17
    Marker Score: 96
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.17
    Marker Score: 179
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.17
    Marker Score: 111
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.16
    Marker Score: 273
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.16
    Marker Score: 92
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.16
    Marker Score: 235
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.16
    Marker Score: 258
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.16
    Marker Score: 140
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.16
    Marker Score: 86
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.16
    Marker Score: 93
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.16
    Marker Score: 35
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.15
    Marker Score: 76
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.15
    Marker Score: 995
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.15
    Marker Score: 84
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.15
    Marker Score: 2002
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.15
    Marker Score: 158
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.15
    Marker Score: 36
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.15
    Marker Score: 33
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 0.15
    Marker Score: 35
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.15
    Marker Score: 32
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.15
    Marker Score: 166
  • Cell Name: activated CD8-positive, alpha-beta T cell, human (CL0001049)
    Fold Change: 0.15
    Marker Score: 34
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.15
    Marker Score: 125
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.15
    Marker Score: 37
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.15
    Marker Score: 33

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Other Information

**Key characteristics** * FANCE is a protein of approximately 120 kDa. * It is expressed in a number of cell types. * It is involved in the repair of DNA DSBs. * It is a member of the Fanconi anemia group of proteins. **Pathways and functions** FANCE is involved in the repair of DNA DSBs by binding to DNA and facilitating the binding of the DNA repair protein FANCD1 to the break site. This complex is then translocated to the site of the break, where it catalyzes the repair of the DNA damage. **Clinical significance** FANCE is a gene that is implicated in the pathogenesis of Fanconi anemia, a genetic disorder that is characterized by recurrent DNA breaks and subsequent cell death. Mutations in FANCE have been linked to the development of Fanconi anemia in humans. **Additional information** * FANCE is a highly conserved protein, with a sequence that is similar in humans and mice. * It is a ubiquitin-dependent protein, which means that it is targeted for degradation by the proteasome when it is no longer needed. * It is a key regulator of DNA repair in mammalian cells.

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 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 8 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 SAM 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. For the full schema, download it here.