Details for: FANCA

Gene ID: 2175

Symbol: FANCA

Ensembl ID: ENSG00000187741

Description: FA complementation group A

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: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.12
    Marker Score: 3325
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.01
    Marker Score: 2059
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71783
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48008
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.97
    Marker Score: 9214
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.96
    Marker Score: 540
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.96
    Marker Score: 2263
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 491
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.95
    Marker Score: 1147
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.95
    Marker Score: 306
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 445
  • Cell Name: centroblast (CL0009112)
    Fold Change: 0.94
    Marker Score: 462
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.92
    Marker Score: 555
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2724
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.89
    Marker Score: 13975
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5035
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.88
    Marker Score: 8284
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.88
    Marker Score: 53839
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.86
    Marker Score: 1326
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.83
    Marker Score: 7171
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.82
    Marker Score: 934
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.8
    Marker Score: 691
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.75
    Marker Score: 509
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.75
    Marker Score: 561
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 568
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.74
    Marker Score: 2018.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 381
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.73
    Marker Score: 293
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.73
    Marker Score: 5568
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.73
    Marker Score: 965
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.72
    Marker Score: 674
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.7
    Marker Score: 464
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 632
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2872
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 169
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.65
    Marker Score: 584
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.62
    Marker Score: 9324
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.61
    Marker Score: 2367
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.61
    Marker Score: 190
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.6
    Marker Score: 642
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.57
    Marker Score: 719
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.55
    Marker Score: 792
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.53
    Marker Score: 438
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 0.52
    Marker Score: 316
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.51
    Marker Score: 2007
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.5
    Marker Score: 856
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.49
    Marker Score: 492
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.49
    Marker Score: 129
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.49
    Marker Score: 238
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.48
    Marker Score: 353
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.47
    Marker Score: 17818
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.47
    Marker Score: 231
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.46
    Marker Score: 1880
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.45
    Marker Score: 207
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.45
    Marker Score: 228
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.45
    Marker Score: 938
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.44
    Marker Score: 8688
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.43
    Marker Score: 2614
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.43
    Marker Score: 416
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.43
    Marker Score: 205
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.42
    Marker Score: 244
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.4
    Marker Score: 14604
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.39
    Marker Score: 375
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.39
    Marker Score: 164
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.39
    Marker Score: 112
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.39
    Marker Score: 193
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.39
    Marker Score: 242
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.38
    Marker Score: 244
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.38
    Marker Score: 159
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.38
    Marker Score: 93
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.37
    Marker Score: 88
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.37
    Marker Score: 262
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.37
    Marker Score: 589
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.36
    Marker Score: 98
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.36
    Marker Score: 847
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.35
    Marker Score: 595
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.35
    Marker Score: 220
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.35
    Marker Score: 132.5
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.35
    Marker Score: 146
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.35
    Marker Score: 111
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.35
    Marker Score: 90
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.34
    Marker Score: 322
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.34
    Marker Score: 1414
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.34
    Marker Score: 250
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.34
    Marker Score: 797
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.33
    Marker Score: 186
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.33
    Marker Score: 1330
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.32
    Marker Score: 607
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.32
    Marker Score: 415
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.32
    Marker Score: 101
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.32
    Marker Score: 3271
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.31
    Marker Score: 326
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 0.31
    Marker Score: 3024
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.3
    Marker Score: 207

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Other Information

**Key characteristics:** - FANCA is a protein of the FANCA family, which are involved in DNA repair and maintenance. - It is a key component of the FA CG1 protein complex. - It is expressed in various cell types, including immune cells, germ cells, and cancer cells. **Pathways and functions:** - FANCA protein is involved in the regulation of the Fanconi anemia pathway, a DNA repair mechanism that protects DNA from damage caused by exposure to carcinogens. - It is essential for the repair of double-strand DNA breaks, which can lead to cell cycle defects and genomic instability. - FANCA protein interacts with other proteins in the FA CG1 complex to facilitate DNA repair pathways. - It also plays a role in the regulation of inflammation and immune responses. **Clinical significance:** - Mutations in the FANCA gene are associated with an increased risk of developing Fanconi anemia. - Genetic testing for FANCA mutations is used for the diagnosis and monitoring of the disease. - Dysregulation of the FANCA gene has been linked to the development of cancer. - Targeting FANCA has emerged as a potential therapeutic strategy for Fanconi anemia. **Additional information:** - The FANCA gene is located on chromosome 15q21.1. - It is a highly conserved gene, with a similar sequence found in mammals and yeast. - Mutations in the FANCA gene can be inherited from parents or occur spontaneously.

Genular Protein ID: 2876220884

Symbol: FANCA_HUMAN

Name: Fanconi anemia group A protein

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8896563

Title: Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

PubMed ID: 8896563

DOI: 10.1038/ng1196-320

PubMed ID: 9169126

Title: The genomic organization of the Fanconi anemia group A (FAA) gene.

PubMed ID: 9169126

DOI: 10.1006/geno.1997.4675

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

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: 9721219

Title: Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.

PubMed ID: 9721219

DOI: 10.1006/geno.1998.5353

PubMed ID: 9711872

Title: Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.

PubMed ID: 9711872

DOI: 10.1002/(sici)1098-1004(1998)12:3<145::aid-humu2>3.0.co;2-g

PubMed ID: 9742112

Title: Functional activity of the Fanconi anemia protein FAA requires FAC binding and nuclear localization.

PubMed ID: 9742112

DOI: 10.1128/mcb.18.10.5952

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: 9789045

Title: The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation.

PubMed ID: 9789045

DOI: 10.1073/pnas.95.22.13085

PubMed ID: 15299030

Title: The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).

PubMed ID: 15299030

DOI: 10.1074/jbc.m403884200

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: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

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

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 22343915

Title: FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway.

PubMed ID: 22343915

DOI: 10.1182/blood-2011-10-385963

PubMed ID: 22705371

Title: A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network.

PubMed ID: 22705371

DOI: 10.1016/j.molcel.2012.05.026

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: 9399890

Title: Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

PubMed ID: 9399890

DOI: 10.1086/301632

PubMed ID: 9371798

Title: Sequence variation in the Fanconi anemia gene FAA.

PubMed ID: 9371798

DOI: 10.1073/pnas.94.24.13051

PubMed ID: 10521298

Title: High frequency of large intragenic deletions in the Fanconi anemia group A gene.

PubMed ID: 10521298

DOI: 10.1086/302627

PubMed ID: 10094191

Title: Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

PubMed ID: 10094191

DOI: 10.1038/sj.ejhg.5200248

PubMed ID: 10210316

Title: A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

PubMed ID: 10210316

DOI: 10.1016/s0301-472x(99)00022-3

PubMed ID: 9929978

Title: Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

PubMed ID: 9929978

DOI: 10.1007/s100380050106

PubMed ID: 11091222

Title: Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

PubMed ID: 11091222

DOI: 10.1046/j.1365-2141.2000.02323.x

PubMed ID: 10807541

Title: Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.

PubMed ID: 10807541

DOI: 10.1007/s100380050203

PubMed ID: 17924555

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

PubMed ID: 17924555

DOI: 10.1002/humu.20625

PubMed ID: 18987736

Title: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

PubMed ID: 18987736

DOI: 10.1038/nature07485

Sequence Information:

  • Length: 1455
  • Mass: 162775
  • Checksum: 5A1918F2BEF4BC50
  • Sequence:
  • MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL LRSHQDLNAL 
    LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD QASRLGVPVG ILSAGMVASS 
    VGQICTAPAE TSHPVLLTVE QRKKLSSLLE FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE 
    AVWHLHVQGI VSLQELLESH PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ 
    MFVLRGFQKN SDLRRTVEPE KMPQVTVDVL QRMLIFALDA LAAGVQEESS THKIVRCWFG 
    VFSGHTLGSV ISTDPLKRFF SHTLTQILTH SPVLKASDAV QMQREWSFAR THPLLTSLYR 
    RLFVMLSAEE LVGHLQEVLE TQEVHWQRVL SFVSALVVCF PEAQQLLEDW VARLMAQAFE 
    SCQLDSMVTA FLVVRQAALE GPSAFLSYAD WFKASFGSTR GYHGCSKKAL VFLFTFLSEL 
    VPFESPRYLQ VHILHPPLVP GKYRSLLTDY ISLAKTRLAD LKVSIENMGL YEDLSSAGDI 
    TEPHSQALQD VEKAIMVFEH TGNIPVTVME ASIFRRPYYV SHFLPALLTP RVLPKVPDSR 
    VAFIESLKRA DKIPPSLYST YCQACSAAEE KPEDAALGVR AEPNSAEEPL GQLTAALGEL 
    RASMTDPSQR DVISAQVAVI SERLRAVLGH NEDDSSVEIS KIQLSINTPR LEPREHMAVD 
    LLLTSFCQNL MAASSVAPPE RQGPWAALFV RTMCGRVLPA VLTRLCQLLR HQGPSLSAPH 
    VLGLAALAVH LGESRSALPE VDVGPPAPGA GLPVPALFDS LLTCRTRDSL FFCLKFCTAA 
    ISYSLCKFSS QSRDTLCSCL SPGLIKKFQF LMFRLFSEAR QPLSEEDVAS LSWRPLHLPS 
    ADWQRAALSL WTHRTFREVL KEEDVHLTYQ DWLHLELEIQ PEADALSDTE RQDFHQWAIH 
    EHFLPESSAS GGCDGDLQAA CTILVNALMD FHQSSRSYDH SENSDLVFGG RTGNEDIISR 
    LQEMVADLEL QQDLIVPLGH TPSQEHFLFE IFRRRLQALT SGWSVAASLQ RQRELLMYKR 
    ILLRLPSSVL CGSSFQAEQP ITARCEQFFH LVNSEMRNFC SHGGALTQDI TAHFFRGLLN 
    ACLRSRDPSL MVDFILAKCQ TKCPLILTSA LVWWPSLEPV LLCRWRRHCQ SPLPRELQKL 
    QEGRQFASDF LSPEAASPAP NPDWLSAAAL HFAIQQVREE NIRKQLKKLD CEREELLVFL 
    FFFSLMGLLS SHLTSNSTTD LPKAFHVCAA ILECLEKRKI SWLALFQLTE SDLRLGRLLL 
    RVAPDQHTRL LPFAFYSLLS YFHEDAAIRE EAFLHVAVDM YLKLVQLFVA GDTSTVSPPA 
    GRSLELKGQG NPVELITKAR LFLLQLIPRC PKKSFSHVAE LLADRGDCDP EVSAALQSRQ 
    QAAPDADLSQ EPHLF

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.