Details for: FANCF

Gene ID: 2188

Symbol: FANCF

Ensembl ID: ENSG00000183161

Description: FA complementation group F

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: 67.6974
    Cell Significance Index: -10.5300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 35.2266
    Cell Significance Index: -8.9400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 24.2457
    Cell Significance Index: -9.8500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 24.1674
    Cell Significance Index: -11.4100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 10.4217
    Cell Significance Index: -9.9500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.2785
    Cell Significance Index: -11.4400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.9549
    Cell Significance Index: -11.6600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.5200
    Cell Significance Index: -7.7400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.4363
    Cell Significance Index: 168.4900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 1.9934
    Cell Significance Index: -5.3400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.7879
    Cell Significance Index: 290.7900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.9215
    Cell Significance Index: 58.0800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.5616
    Cell Significance Index: 14.3500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.3922
    Cell Significance Index: 13.6300
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3760
    Cell Significance Index: 8.6900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.3557
    Cell Significance Index: 2.8400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3517
    Cell Significance Index: 7.6200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3265
    Cell Significance Index: 62.1400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3231
    Cell Significance Index: 9.3100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2938
    Cell Significance Index: 6.1500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2826
    Cell Significance Index: 154.3200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2010
    Cell Significance Index: 9.1100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1944
    Cell Significance Index: 85.9400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1787
    Cell Significance Index: 2.1300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1689
    Cell Significance Index: 16.7100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1613
    Cell Significance Index: 10.4100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1504
    Cell Significance Index: 20.6500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1336
    Cell Significance Index: 6.2300
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.1196
    Cell Significance Index: 0.7400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1188
    Cell Significance Index: 20.2900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1176
    Cell Significance Index: 3.2000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1007
    Cell Significance Index: 19.9800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0995
    Cell Significance Index: 5.1700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0908
    Cell Significance Index: 16.3600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0890
    Cell Significance Index: 2.3400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0833
    Cell Significance Index: 5.8900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0800
    Cell Significance Index: 9.4400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0772
    Cell Significance Index: 15.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0637
    Cell Significance Index: 2.2400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.0469
    Cell Significance Index: 0.5100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0450
    Cell Significance Index: 5.7700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0375
    Cell Significance Index: 1.0100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0350
    Cell Significance Index: 1.1200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0315
    Cell Significance Index: 0.6700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0249
    Cell Significance Index: 1.5300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0202
    Cell Significance Index: 2.4800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0173
    Cell Significance Index: 6.2200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.0078
    Cell Significance Index: 0.1000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0005
    Cell Significance Index: 0.3300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0009
    Cell Significance Index: -0.6300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0046
    Cell Significance Index: -8.5900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0048
    Cell Significance Index: -0.0800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0056
    Cell Significance Index: -3.5200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0078
    Cell Significance Index: -14.4300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0079
    Cell Significance Index: -0.5900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0080
    Cell Significance Index: -6.0600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0089
    Cell Significance Index: -13.7100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0105
    Cell Significance Index: -14.2200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0108
    Cell Significance Index: -3.1200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0138
    Cell Significance Index: -8.7700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0142
    Cell Significance Index: -8.0100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0173
    Cell Significance Index: -2.2400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0178
    Cell Significance Index: -3.7500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0193
    Cell Significance Index: -1.9700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0234
    Cell Significance Index: -2.6800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0236
    Cell Significance Index: -10.7300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0301
    Cell Significance Index: -1.4200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0410
    Cell Significance Index: -4.7800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0418
    Cell Significance Index: -0.4800
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0489
    Cell Significance Index: -0.2900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0596
    Cell Significance Index: -3.1300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0623
    Cell Significance Index: -9.0500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0680
    Cell Significance Index: -1.9000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0729
    Cell Significance Index: -8.3200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0742
    Cell Significance Index: -2.1800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0813
    Cell Significance Index: -2.1700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0893
    Cell Significance Index: -5.0100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0900
    Cell Significance Index: -2.2500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0929
    Cell Significance Index: -7.3600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1054
    Cell Significance Index: -8.0900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1084
    Cell Significance Index: -2.9000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1111
    Cell Significance Index: -11.5700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1193
    Cell Significance Index: -1.2400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1202
    Cell Significance Index: -6.2600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1229
    Cell Significance Index: -3.1600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1472
    Cell Significance Index: -9.9000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.1596
    Cell Significance Index: -1.2300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1731
    Cell Significance Index: -5.1000
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1798
    Cell Significance Index: -1.1700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1861
    Cell Significance Index: -11.4100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2087
    Cell Significance Index: -4.5700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.2179
    Cell Significance Index: -1.8300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2239
    Cell Significance Index: -3.8400
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.2293
    Cell Significance Index: -1.4400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2299
    Cell Significance Index: -10.1700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2500
    Cell Significance Index: -6.0000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2502
    Cell Significance Index: -3.7700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2622
    Cell Significance Index: -9.9300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2738
    Cell Significance Index: -9.5900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2817
    Cell Significance Index: -10.3400

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:** FANCF is a member of the FA protein complex, which is composed of eight subunits: FANCA, FANCB, FANCC, FANCD1 (also known as BRCA2), FANCD2, FANCF, FANCG, and FANCI. The FA complex is recruited to interstrand cross-links, where it facilitates the repair process by forming a transient complex with the DNA polymerase ε and the helicase UvrN. FANCF is particularly important for the recruitment of FANCD2 to the DNA damage site, where it activates the FA pathway. In addition to its role in DNA repair, FANCF has been shown to interact with various proteins involved in immune signaling, including interferons and cytokines. **Pathways and Functions:** FANCF is involved in several key pathways, including: 1. **DNA damage response:** FANCF is essential for the repair of interstrand cross-links, a type of DNA lesion that can lead to chromosomal instability and cancer. 2. **Antiviral mechanism by IFN-stimulated genes:** FANCF has been shown to regulate the expression of IFN-stimulated genes, which are critical for the defense against viral infections. 3. **Cytokine signaling in immune system:** FANCF interacts with various proteins involved in cytokine signaling, including interferons and cytokines, which are essential for the regulation of immune responses. 4. **Interstrand cross-link repair:** FANCF is involved in the repair of interstrand cross-links, a type of DNA lesion that can lead to chromosomal instability and cancer. **Clinical Significance:** Dysregulation of the FA pathway, including mutations in the FANCF gene, has been implicated in various diseases, including: 1. **Fanconi anemia:** A rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer. 2. **Cancer:** Mutations in the FANCF gene have been associated with an increased risk of cancer, particularly leukemia and lymphoma. 3. **Immunodeficiency:** Dysregulation of the FA pathway has been linked to impaired immune function, including reduced cytokine production and increased susceptibility to infections. 4. **Neurological disorders:** Mutations in the FANCF gene have been associated with neurological disorders, including epilepsy and cognitive impairment. In conclusion, FANCF is a critical component of the FA pathway, essential for the repair of interstrand cross-links and the regulation of immune responses. Dysregulation of the FA pathway, including mutations in the FANCF gene, has been implicated in various diseases, highlighting the importance of this gene in maintaining genome stability and immune function.

Genular Protein ID: 3694424282

Symbol: FANCF_HUMAN

Name: Fanconi anemia group F protein

UniProtKB Accession Codes:

Q9NPI8 Q52LM0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 7 EMDB 6 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 6 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 MoonDB 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 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10615118

Title: The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM.

PubMed ID: 10615118

DOI: 10.1038/71626

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 17082180

Title: Structural determinants of human FANCF protein that function in the assembly of a DNA damage signaling complex.

PubMed ID: 17082180

DOI: 10.1074/jbc.m608356200

PubMed ID: 11063725

Title: The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.

PubMed ID: 11063725

DOI: 10.1093/hmg/9.18.2665

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: 18550849

Title: HES1 is a novel interactor of the Fanconi anemia core complex.

PubMed ID: 18550849

DOI: 10.1182/blood-2008-04-152710

Sequence Information:

  • Length: 374
  • Mass: 42254
  • Checksum: 1F295CD1FBE6ED7D
  • Sequence:
    • MESLLQHLDR FSELLAVSST TYVSTWDPAT VRRALQWARY LRHIHRRFGR HGPIRTALER 
RLHNQWRQEG GFGRGPVPGL ANFQALGHCD VLLSLRLLEN RALGDAARYH LVQQLFPGPG 
VRDADEETLQ ESLARLARRR SAVHMLRFNG YRENPNLQED SLMKTQAELL LERLQEVGKA 
EAERPARFLS SLWERLPQNN FLKVIAVALL QPPLSRRPQE ELEPGIHKSP GEGSQVLVHW 
LLGNSEVFAA FCRALPAGLL TLVTSRHPAL SPVYLGLLTD WGQRLHYDLQ KGIWVGTESQ 
DVPWEELHNR FQSLCQAPPP LKDKVLTALE TCKAQDGDFE VPGLSIWTDL LLALRSGAFR 
KRQVLGLSAG LSSV

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.