Details for: FANCC

Gene ID: 2176

Symbol: FANCC

Ensembl ID: ENSG00000158169

Description: FA complementation group C

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: anterior lens cell (CL0002223)
    Fold Change: 2.92
    Marker Score: 3925
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.85
    Marker Score: 3455
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.14
    Marker Score: 1251
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 2.13
    Marker Score: 11424
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.88
    Marker Score: 2272
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.7
    Marker Score: 3262
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.69
    Marker Score: 494
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.68
    Marker Score: 5979
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.68
    Marker Score: 3691
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.65
    Marker Score: 6893
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.63
    Marker Score: 3836
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.63
    Marker Score: 36368
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.61
    Marker Score: 508
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.51
    Marker Score: 847
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.49
    Marker Score: 867
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.47
    Marker Score: 1135
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168813
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.47
    Marker Score: 614
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.43
    Marker Score: 5064
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.43
    Marker Score: 751
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.42
    Marker Score: 1604
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.39
    Marker Score: 7296
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.37
    Marker Score: 8784
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.36
    Marker Score: 2378
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.36
    Marker Score: 756
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.35
    Marker Score: 5824
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.35
    Marker Score: 7241
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.3
    Marker Score: 1494
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.28
    Marker Score: 2950
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.28
    Marker Score: 1590
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.27
    Marker Score: 462
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.26
    Marker Score: 19785
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.24
    Marker Score: 2521
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.24
    Marker Score: 9343
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.22
    Marker Score: 10478
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.21
    Marker Score: 74552
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.21
    Marker Score: 1069
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.19
    Marker Score: 374
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.16
    Marker Score: 692
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.13
    Marker Score: 10738
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.13
    Marker Score: 457.5
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.1
    Marker Score: 406
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.09
    Marker Score: 370
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.06
    Marker Score: 1143
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.05
    Marker Score: 909
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.05
    Marker Score: 286
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.03
    Marker Score: 4201
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.03
    Marker Score: 559
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1
    Marker Score: 4180
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71785
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48010
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.99
    Marker Score: 690
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.99
    Marker Score: 553
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.97
    Marker Score: 2319
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.97
    Marker Score: 1068
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 497
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.96
    Marker Score: 2412
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 452
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.96
    Marker Score: 5750
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.94
    Marker Score: 901
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.93
    Marker Score: 542
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.93
    Marker Score: 558
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.93
    Marker Score: 267
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.92
    Marker Score: 1427
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.92
    Marker Score: 3086
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2731
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.91
    Marker Score: 3773
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.9
    Marker Score: 9255
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.89
    Marker Score: 30031
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5065
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.89
    Marker Score: 341
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.88
    Marker Score: 282
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.87
    Marker Score: 1412
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.86
    Marker Score: 32647
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.86
    Marker Score: 392
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.86
    Marker Score: 412
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.86
    Marker Score: 408
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.85
    Marker Score: 13629
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.84
    Marker Score: 2766
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.82
    Marker Score: 3161
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.82
    Marker Score: 874
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.82
    Marker Score: 305
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.8
    Marker Score: 230
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 607
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.79
    Marker Score: 251
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 314
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.78
    Marker Score: 199
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.77
    Marker Score: 3229
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.77
    Marker Score: 16355
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.76
    Marker Score: 288
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.76
    Marker Score: 197
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.75
    Marker Score: 273
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.74
    Marker Score: 1050
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.73
    Marker Score: 6901
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.73
    Marker Score: 1051

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Other Information

**Key characteristics:** * FANCC is a transmembrane protein with a molecular weight of approximately 140 kDa. * It is expressed in a variety of cell types, including anterior lens cell, lens epithelial cell, secondary lens fiber, stellate neuron, mesangial cell, kidney interstitial fibroblast, non-pigmented ciliary epithelial cell, regular atrial cardiac myocyte, ciliary muscle cell, and pigmented epithelial cell. * FANCC is a key regulator of cellular response to oxidative stress and is involved in the development of the eye and kidney. **Pathways and functions:** * FANCC is involved in the antiviral mechanism by ifn-stimulated genes. * It is also involved in cellular response to oxidative stress and is a key regulator of the development of the eye and kidney. * FANCC is involved in the cytokine signaling pathway, which is a major regulator of immune responses. * It is involved in the DNA repair pathway and is a key regulator of cell cycle regulation. * FANCC is involved in the Fanconi anemia pathway, which is a disorder caused by a deficiency of the enzyme FANCA. **Clinical significance:** * Mutations in FANCC have been linked to the development of Fanconi anemia, a genetic disorder characterized by a variety of eye and kidney problems. * FANCC is a potential therapeutic target for Fanconi anemia.

Genular Protein ID: 2050860821

Symbol: FANCC_HUMAN

Name: Fanconi anemia group C protein

UniProtKB Accession Codes:

Q00597 B1ALR8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 21 EMDB 6 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 17 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 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 6 PDBsum 6 PIR 1 PIRSF 1 PRINTS 1 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 3 RefSeq 3 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1574115

Title: Cloning of cDNAs for Fanconi's anaemia by functional complementation.

PubMed ID: 1574115

DOI: 10.1038/356763a0

PubMed ID: 1641028

Title:

PubMed ID: 1641028

DOI: 10.1038/358434a0

PubMed ID: 8490620

Title: Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR.

PubMed ID: 8490620

DOI: 10.1093/hmg/2.1.35

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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: 7517562

Title: The Fanconi anemia polypeptide FACC is localized to the cytoplasm.

PubMed ID: 7517562

DOI: 10.1073/pnas.91.14.6712

PubMed ID: 8058745

Title: Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells.

PubMed ID: 8058745

DOI: 10.1073/pnas.91.17.7975

PubMed ID: 9242535

Title: The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2.

PubMed ID: 9242535

PubMed ID: 10572087

Title: A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF.

PubMed ID: 10572087

PubMed ID: 11520787

Title: The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality.

PubMed ID: 11520787

DOI: 10.1182/blood.v98.5.1392

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: 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: 22266823

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

PubMed ID: 22266823

DOI: 10.1038/nsmb.2222

PubMed ID: 8499901

Title: A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein.

PubMed ID: 8499901

DOI: 10.1093/hmg/2.2.123

PubMed ID: 8348157

Title: A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

PubMed ID: 8348157

DOI: 10.1038/ng0693-202

PubMed ID: 8128956

Title: Mutation analysis of the Fanconi anemia gene FACC.

PubMed ID: 8128956

PubMed ID: 8844212

Title: Novel mutations and polymorphisms in the Fanconi anemia group C gene.

PubMed ID: 8844212

DOI: 10.1002/(sici)1098-1004(1996)8:2<140::aid-humu6>3.0.co;2-f

Sequence Information:

  • Length: 558
  • Mass: 63429
  • Checksum: C9DDFFAC725D050C
  • Sequence:
    • MAQDSVDLSC DYQFWMQKLS VWDQASTLET QQDTCLHVAQ FQEFLRKMYE ALKEMDSNTV 
IERFPTIGQL LAKACWNPFI LAYDESQKIL IWCLCCLINK EPQNSGQSKL NSWIQGVLSH 
ILSALRFDKE VALFTQGLGY APIDYYPGLL KNMVLSLASE LRENHLNGFN TQRRMAPERV 
ASLSRVCVPL ITLTDVDPLV EALLICHGRE PQEILQPEFF EAVNEAILLK KISLPMSAVV 
CLWLRHLPSL EKAMLHLFEK LISSERNCLR RIECFIKDSS LPQAACHPAI FRVVDEMFRC 
ALLETDGALE IIATIQVFTQ CFVEALEKAS KQLRFALKTY FPYTSPSLAM VLLQDPQDIP 
RGHWLQTLKH ISELLREAVE DQTHGSCGGP FESWFLFIHF GGWAEMVAEQ LLMSAAEPPT 
ALLWLLAFYY GPRDGRQQRA QTMVQVKAVL GHLLAMSRSS SLSAQDLQTV AGQGTDTDLR 
APAQQLIRHL LLNFLLWAPG GHTIAWDVIT LMAHTAEITH EIIGFLDQTL YRWNRLGIES 
PRSEKLAREL LKELRTQV

Genular Protein ID: 1906147297

Symbol: A0A087WW44_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A087WW44

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 4 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 3 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PRINTS 1 PeptideAtlas 2 Pfam 1 Proteomes 2 RefSeq 1 SAM 1 SMR 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

Sequence Information:

  • Length: 492
  • Mass: 56086
  • Checksum: 63A50D0F9EF75636
  • Sequence:
    • MAQDSVDLSC DYQFWMQKLS VWDQASTLET QQDTCLHVAQ FQEFLRKMYE ALKEMDSNTV 
IERFPTIGQL LAKACWNPFI LAYDESQKIL IWCLCCLINK EPQNSGQSKL NSWIQGVLSH 
ILSALRFDKE VALFTQGLGY APIDYYPGLL KNMVLSLASE LRENHLNGFN TQRRMAPERV 
ASLSRVCVPL ITLTDVDPLV EALLICHGRE PQEILQPEFF EAVNEAILLK KISLPMSAVV 
CLWLRHLPSL EKAMLHLFEK LISSERNCLR RIECFIKDSS LPQAACHPAI FRVVDEMFRC 
ALLETDGALE IIATIQVFTQ CFVEALEKAS KQLRFALKTY FPYTSPSLAM VLLQDPQDIP 
RGHWLQTLKH ISELLREAVE DQTHGSCGGP FESWFLFIHF GGWAEMVAEQ LLMSAAEPPT 
ALLWLLAFYY GPRDGRQQRA QTMMAYVMAT CRHGDLQPCG QRRSPVPTEV ARDETLPAHS 
PAKRRPFFPK VI

Genular Protein ID: 590067639

Symbol: B4E3W2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4E3W2

Database IDs:

Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 6 Ensembl 3 GO 2 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 VEuPathDB 1

Citations:

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

Sequence Information:

  • Length: 115
  • Mass: 13462
  • Checksum: 5D832FCF479412FD
  • Sequence:
    • MAQDSVDLSC DYQFWMQKLS VWDQASTLET QQDTCLHVAQ FQEFLRKMYE ALKEMDSNTV 
IERFPTIGQL LAKACWNPFI LAYDESQKIL IWCLCCLINK EPQNSGQSKL NSWIQ

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.