Details Currently Unavailable
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AI-Generated Summary
Disclaimer: This summary is AI-generated based on limited data and may be speculative or contain inaccuracies. Detailed expression analysis for this entry is unavailable.
Raw Database JSON for Gene ID: 2176
{
"geneID": 2176,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AL157384.8"
]
},
"genePos": {
"start": 95099054,
"end": 95317709
},
"orientation": true,
"symbol": "FANCC",
"created": {
"$date": {
"$numberLong": "1738333348794"
}
},
"crossReference": {
"enseGeneID": "ENSG00000158169",
"enseRnaID": [
"ENST00000289081.8"
],
"enseProtID": [
"ENSP00000289081.3"
]
},
"chrom": {
"pos": "9",
"type": 1,
"loc": "9q22.32"
},
"desc": "FA complementation group C",
"geneType": 5,
"mim": [
{
"id": 227645,
"relation": 1,
"cui": 3468041
}
],
"ontology": [
{
"id": "R-HSA-168256",
"term": "Immune System",
"cat": 10
},
{
"id": "R-HSA-73894",
"term": "DNA Repair",
"cat": 10
},
{
"id": "R-HSA-74160",
"term": "Gene expression (Transcription)",
"cat": 10
},
{
"id": "R-HSA-1280215",
"term": "Cytokine Signaling in Immune system",
"cat": 11
},
{
"id": "R-HSA-6783310",
"term": "Fanconi Anemia Pathway",
"cat": 11
},
{
"id": "R-HSA-73857",
"term": "RNA Polymerase II Transcription",
"cat": 11
},
{
"id": "R-HSA-212436",
"term": "Generic Transcription Pathway",
"cat": 12
},
{
"id": "R-HSA-913531",
"term": "Interferon Signaling",
"cat": 12
},
{
"id": "R-HSA-1169410",
"term": "Antiviral mechanism by IFN-stimulated genes",
"cat": 13
},
{
"id": "R-HSA-3700989",
"term": "Transcriptional Regulation by TP53",
"cat": 13
},
{
"id": "R-HSA-6796648",
"term": "TP53 Regulates Transcription of DNA Repair Genes",
"cat": 14
},
{
"id": "R-HSA-9833482",
"term": "PKR-mediated signaling",
"cat": 14
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
9596688,
12649160,
26871637,
33961781
],
"cat": 0
},
{
"id": "GO:0002262",
"term": "myeloid cell homeostasis",
"cat": 1
},
{
"id": "GO:0006281",
"term": "DNA repair",
"pubMed": [
1574115
],
"cat": 1
},
{
"id": "GO:0006289",
"term": "nucleotide-excision repair",
"cat": 1
},
{
"id": "GO:0007281",
"term": "germ cell development",
"cat": 1
},
{
"id": "GO:0019430",
"term": "removal of superoxide radicals",
"cat": 1
},
{
"id": "GO:0034599",
"term": "cellular response to oxidative stress",
"cat": 1
},
{
"id": "GO:0036297",
"term": "interstrand cross-link repair",
"pubMed": [
19965384
],
"cat": 1
},
{
"id": "GO:0048854",
"term": "brain morphogenesis",
"cat": 1
},
{
"id": "GO:0065003",
"term": "protein-containing complex assembly",
"pubMed": [
9398857
],
"cat": 1
},
{
"id": "GO:0097150",
"term": "neuronal stem cell population maintenance",
"cat": 1
},
{
"id": "GO:0000785",
"term": "chromatin",
"pubMed": [
22343915
],
"cat": 2
},
{
"id": "GO:0005634",
"term": "nucleus",
"pubMed": [
9398857
],
"cat": 2
},
{
"id": "GO:0005654",
"term": "nucleoplasm",
"cat": 2
},
{
"id": "GO:0005737",
"term": "cytoplasm",
"pubMed": [
9398857
],
"cat": 2
},
{
"id": "GO:0005829",
"term": "cytosol",
"pubMed": [
9596688
],
"cat": 2
},
{
"id": "GO:0005829",
"term": "cytosol",
"cat": 2
},
{
"id": "GO:0043240",
"term": "Fanconi anaemia nuclear complex",
"cat": 2
},
{
"id": "GO:0043240",
"term": "Fanconi anaemia nuclear complex",
"pubMed": [
20347428,
22266823
],
"cat": 2
},
{
"id": "GO:0043240",
"term": "Fanconi anaemia nuclear complex",
"pubMed": [
22343915
],
"cat": 2
}
],
"protein": [
{
"symbol": "FANCC_HUMAN",
"name": "Fanconi anemia group C protein",
"accession": [
"Q00597",
"B1ALR8"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"MIM": [
"227645",
"227645",
"613899"
],
"EMBL": [
"X66894",
"X66893",
"L02664",
"L02651",
"L02652",
"L02653",
"L02654",
"L02655",
"L02656",
"L02657",
"L02658",
"L02659",
"L02660",
"L02661",
"L02662",
"L02663",
"AY220878",
"AL157384",
"AL354893",
"CH471174",
"BC015748"
],
"CCDS": [
"CCDS35071.1"
],
"PIR": [
"S21733"
],
"RefSeq": [
"NP_000127.2",
"NP_001230672.1",
"XP_011516667.1"
],
"PDB": [
"7KZP",
"7KZQ",
"7KZR",
"7KZS",
"7KZT",
"7KZV"
],
"PDBsum": [
"7KZP",
"7KZQ",
"7KZR",
"7KZS",
"7KZT",
"7KZV"
],
"AlphaFoldDB": [
"Q00597"
],
"EMDB": [
"EMD-23085",
"EMD-23086",
"EMD-23087",
"EMD-23088",
"EMD-23089",
"EMD-23090"
],
"SMR": [
"Q00597"
],
"BioGRID": [
"108473"
],
"ComplexPortal": [
"CPX-6263"
],
"CORUM": [
"Q00597"
],
"DIP": [
"DIP-32846N"
],
"IntAct": [
"Q00597"
],
"MINT": [
"Q00597"
],
"STRING": [
"9606.ENSP00000289081"
],
"GlyGen": [
"Q00597"
],
"iPTMnet": [
"Q00597"
],
"PhosphoSitePlus": [
"Q00597"
],
"BioMuta": [
"FANCC"
],
"DMDM": [
"1706762"
],
"MassIVE": [
"Q00597"
],
"PaxDb": [
"9606-ENSP00000289081"
],
"PeptideAtlas": [
"Q00597"
],
"ProteomicsDB": [
"57860"
],
"Pumba": [
"Q00597"
],
"Antibodypedia": [
"4496"
],
"DNASU": [
"2176"
],
"Ensembl": [
"ENST00000289081.8",
"ENST00000375305.6"
],
"KEGG": [
"hsa:2176"
],
"MANE-Select": [
"ENST00000289081.8"
],
"UCSC": [
"uc004avh.4"
],
"AGR": [
"HGNC:3584"
],
"CTD": [
"2176"
],
"DisGeNET": [
"2176"
],
"GeneCards": [
"FANCC"
],
"GeneReviews": [
"FANCC"
],
"HGNC": [
"HGNC:3584"
],
"HPA": [
"ENSG00000158169"
],
"MalaCards": [
"FANCC"
],
"neXtProt": [
"NX_Q00597"
],
"OpenTargets": [
"ENSG00000158169"
],
"Orphanet": [
"84"
],
"PharmGKB": [
"PA27997"
],
"VEuPathDB": [
"HostDB:ENSG00000158169"
],
"eggNOG": [
"ENOG502QSB8"
],
"GeneTree": [
"ENSGT00390000016390"
],
"HOGENOM": [
"CLU_035819_0_0_1"
],
"InParanoid": [
"Q00597"
],
"OMA": [
"RWHHRAS"
],
"OrthoDB": [
"2918906at2759"
],
"PhylomeDB": [
"Q00597"
],
"TreeFam": [
"TF330803"
],
"PathwayCommons": [
"Q00597"
],
"Reactome": [
"R-HSA-6783310",
"R-HSA-6796648",
"R-HSA-9833482"
],
"SignaLink": [
"Q00597"
],
"SIGNOR": [
"Q00597"
],
"BioGRID-ORCS": [
"2176"
],
"ChiTaRS": [
"FANCC"
],
"GeneWiki": [
"Fanconi_anemia,_complementation_group_C"
],
"GenomeRNAi": [
"2176"
],
"Pharos": [
"Q00597"
],
"PRO": [
"PR:Q00597"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"Q00597"
],
"Bgee": [
"ENSG00000158169"
],
"ExpressionAtlas": [
"Q00597"
],
"GO": [
"GO:0000785",
"GO:0005737",
"GO:0005829",
"GO:0043240",
"GO:0005654",
"GO:0005634",
"GO:0048854",
"GO:0034599",
"GO:0006281",
"GO:0007281",
"GO:0036297",
"GO:0002262",
"GO:0097150",
"GO:0006289",
"GO:0065003",
"GO:0019430"
],
"InterPro": [
"IPR000686"
],
"PANTHER": [
"PTHR16798:SF0",
"PTHR16798"
],
"Pfam": [
"PF02106"
],
"PIRSF": [
"PIRSF018417"
],
"PRINTS": [
"PR00494"
]
},
"citations": [
{
"title": "Cloning of cDNAs for Fanconi's anaemia by functional complementation.",
"pubmedID": "1574115",
"doi": "10.1038/356763a0"
},
{
"pubmedID": "1641028",
"doi": "10.1038/358434a0"
},
{
"title": "Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR.",
"pubmedID": "8490620",
"doi": "10.1093/hmg/2.1.35"
},
{
"title": "DNA sequence and analysis of human chromosome 9.",
"pubmedID": "15164053",
"doi": "10.1038/nature02465"
},
{
"title": "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).",
"pubmedID": "15489334",
"doi": "10.1101/gr.2596504"
},
{
"title": "The Fanconi anemia polypeptide FACC is localized to the cytoplasm.",
"pubmedID": "7517562",
"doi": "10.1073/pnas.91.14.6712"
},
{
"title": "Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells.",
"pubmedID": "8058745",
"doi": "10.1073/pnas.91.17.7975"
},
{
"title": "The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2.",
"pubmedID": "9242535"
},
{
"title": "A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF.",
"pubmedID": "10572087"
},
{
"title": "The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality.",
"pubmedID": "11520787",
"doi": "10.1182/blood.v98.5.1392"
},
{
"title": "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.",
"pubmedID": "12724401",
"doi": "10.1128/mcb.23.10.3417-3426.2003"
},
{
"title": "The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).",
"pubmedID": "15299030",
"doi": "10.1074/jbc.m403884200"
},
{
"title": "X-linked inheritance of Fanconi anemia complementation group B.",
"pubmedID": "15502827",
"doi": "10.1038/ng1458"
},
{
"title": "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.",
"pubmedID": "16116422",
"doi": "10.1038/ng1626"
},
{
"title": "Regulation of Rev1 by the Fanconi anemia core complex.",
"pubmedID": "22266823",
"doi": "10.1038/nsmb.2222"
},
{
"title": "A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein.",
"pubmedID": "8499901",
"doi": "10.1093/hmg/2.2.123"
},
{
"title": "A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.",
"pubmedID": "8348157",
"doi": "10.1038/ng0693-202"
},
{
"title": "Mutation analysis of the Fanconi anemia gene FACC.",
"pubmedID": "8128956"
},
{
"title": "Novel mutations and polymorphisms in the Fanconi anemia group C gene.",
"pubmedID": "8844212",
"doi": "10.1002/(sici)1098-1004(1996)8:2<140::aid-humu6>3.0.co;2-f"
}
],
"sequence": {
"length": 558,
"mass": 63429,
"checksum": "C9DDFFAC725D050C",
"modified": {
"$date": {
"$numberLong": "844128000000"
}
},
"version": 1,
"sequence": "MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFILAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASELRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV"
},
"existence": 0,
"relevance": 1,
"proteinID": 2050860821
},
{
"symbol": "A0A087WW44_HUMAN",
"accession": [
"A0A087WW44"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"EMBL": [
"AL157384",
"AL161729",
"AL354893",
"AL446023"
],
"RefSeq": [
"NP_001230673.1"
],
"AlphaFoldDB": [
"A0A087WW44"
],
"SMR": [
"A0A087WW44"
],
"MassIVE": [
"A0A087WW44"
],
"PeptideAtlas": [
"A0A087WW44",
"A0A087WW44"
],
"Antibodypedia": [
"4496"
],
"DNASU": [
"2176"
],
"Ensembl": [
"ENST00000490972.7",
"ENSP00000479931.1"
],
"UCSC": [
"uc004avi.5"
],
"CTD": [
"2176"
],
"DisGeNET": [
"2176"
],
"HGNC": [
"HGNC:3584"
],
"VEuPathDB": [
"HostDB:ENSG00000158169"
],
"GeneTree": [
"ENSGT00390000016390"
],
"OrthoDB": [
"2918906at2759"
],
"BioGRID-ORCS": [
"2176"
],
"ChiTaRS": [
"FANCC"
],
"Proteomes": [
"UP000005640",
"UP000005640"
],
"Bgee": [
"ENSG00000158169"
],
"ExpressionAtlas": [
"A0A087WW44"
],
"GO": [
"GO:0005737",
"GO:0043240",
"GO:0036297"
],
"InterPro": [
"IPR000686"
],
"PANTHER": [
"PTHR16798:SF0",
"PTHR16798"
],
"Pfam": [
"PF02106"
],
"PIRSF": [
"PIRSF018417"
],
"PRINTS": [
"PR00494"
],
"PIRNR": [
"PIRNR018417"
],
"SAM": [
"MobiDB-lite"
],
"ProteomicsDB": [
"A0A087WW44"
]
},
"citations": [
{
"title": "Initial sequencing and analysis of the human genome.",
"pubmedID": "11237011",
"doi": "10.1038/35057062"
},
{
"title": "DNA sequence and analysis of human chromosome 9.",
"pubmedID": "15164053",
"doi": "10.1038/nature02465"
},
{
"title": "Finishing the euchromatic sequence of the human genome.",
"pubmedID": "15496913",
"doi": "10.1038/nature03001"
}
],
"sequence": {
"length": 492,
"mass": 56086,
"checksum": "63A50D0F9EF75636",
"modified": {
"$date": {
"$numberLong": "1414540800000"
}
},
"version": 1,
"sequence": "MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFILAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASELRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMMAYVMATCRHGDLQPCGQRRSPVPTEVARDETLPAHSPAKRRPFFPKVI"
},
"existence": 0,
"relevance": 2,
"proteinID": 1906147297
},
{
"symbol": "B4E3W2_HUMAN",
"accession": [
"B4E3W2"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"EMBL": [
"AL157384",
"AL161729",
"AL354893",
"AL446023",
"AK304887",
"BAG65624.1"
],
"RefSeq": [
"NP_001230673.1"
],
"DNASU": [
"2176"
],
"Ensembl": [
"ENST00000474949.1",
"ENST00000649519.1",
"ENSP00000497630.1"
],
"CTD": [
"2176"
],
"DisGeNET": [
"2176"
],
"HGNC": [
"HGNC:3584"
],
"VEuPathDB": [
"HostDB:ENSG00000158169"
],
"GeneTree": [
"ENSGT00390000016390"
],
"OMA": [
"RWHHRAS"
],
"OrthoDB": [
"2918906at2759"
],
"BioGRID-ORCS": [
"2176"
],
"ChiTaRS": [
"FANCC"
],
"Proteomes": [
"UP000005640",
"UP000005640"
],
"Bgee": [
"ENSG00000158169"
],
"GO": [
"GO:0043240",
"GO:0036297"
],
"InterPro": [
"IPR000686"
],
"PANTHER": [
"PTHR16798:SF0",
"PTHR16798"
],
"Pfam": [
"PF02106"
],
"PRINTS": [
"PR00494"
],
"PeptideAtlas": [
"B4E3W2"
],
"ProteomicsDB": [
"B4E3W2"
]
},
"citations": [
{
"title": "Initial sequencing and analysis of the human genome.",
"pubmedID": "11237011",
"doi": "10.1038/35057062"
},
{
"title": "DNA sequence and analysis of human chromosome 9.",
"pubmedID": "15164053",
"doi": "10.1038/nature02465"
},
{
"title": "Finishing the euchromatic sequence of the human genome.",
"pubmedID": "15496913",
"doi": "10.1038/nature03001"
}
],
"sequence": {
"length": 115,
"mass": 13462,
"checksum": "5D832FCF479412FD",
"modified": {
"$date": {
"$numberLong": "1222128000000"
}
},
"version": 1,
"sequence": "MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFILAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQ"
},
"existence": 0,
"relevance": 2,
"proteinID": 590067639
}
],
"mRNAExpressions": {
"proteinAtlas": [
{
"l": "Granulocytes",
"c": "basophil",
"e": 10.6
}
]
},
"singleCellExpressions": {
"cellSignificanceIndex": [
{
"cell_id": "CL0000030",
"cell_term": "glioblast",
"context": "overall",
"pVal": 0.3046835921875539,
"deltaVal": 1,
"csiScore": 14.95055196833993,
"rCsiScore": 23.84962735787931,
"prsScore": 36.4316
},
{
"cell_id": "CL0000182",
"cell_term": "hepatocyte",
"context": "overall",
"pVal": 0.4055903299222714,
"deltaVal": 1,
"csiScore": 14.196471556110787,
"rCsiScore": 25.410487851435736,
"prsScore": 40.5607
},
{
"cell_id": "CL0002306",
"cell_term": "epithelial cell of proximal tubule",
"context": "overall",
"pVal": 0.3632600813974949,
"deltaVal": 1,
"csiScore": 12.86356745831228,
"rCsiScore": 31.41665348416361,
"prsScore": 38.5217
},
{
"cell_id": "CL0000498",
"cell_term": "inhibitory interneuron",
"context": "overall",
"pVal": 0.33035936634499863,
"deltaVal": 1,
"csiScore": 12.638298707158693,
"rCsiScore": 29.174101199005147,
"prsScore": 34.6432
},
{
"cell_id": "CL0000765",
"cell_term": "erythroblast",
"context": "overall",
"pVal": 0.2890357971130477,
"deltaVal": 1,
"csiScore": 10.131493377746054,
"rCsiScore": 26.88614617453083,
"prsScore": 55.3984
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