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    FANCC FA complementation group C [ Homo sapiens (human) ]

    Gene ID: 2176, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FANCCprovided by HGNC
    Official Full Name
    FA complementation group Cprovided by HGNC
    Primary source
    HGNC:HGNC:3584
    See related
    Ensembl:ENSG00000158169 MIM:613899; AllianceGenome:HGNC:3584
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FA3; FAC; FACC
    Summary
    The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 3.8), liver (RPKM 2.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FANCC in Genome Data Viewer
    Location:
    9q22.32
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (95099054..95317709, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (107268451..107487223, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (97861336..98079991, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene aminopeptidase O (putative) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97852235-97852984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97853735-97854484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97852985-97853734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:97863941-97864440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97865305-97865951 Neighboring gene uncharacterized LOC107987102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20063 Neighboring gene Sharpr-MPRA regulatory region 10736 Neighboring gene Sharpr-MPRA regulatory region 8238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:97894463-97894965 Neighboring gene microRNA 24-1 Neighboring gene microRNA 3074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97900452-97901082 Neighboring gene microRNA 27b Neighboring gene ribosomal protein S26 pseudogene 37 Neighboring gene RNA, 5S ribosomal pseudogene 288 Neighboring gene small nucleolar RNA U13 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110513 Neighboring gene Sharpr-MPRA regulatory region 1665 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110548 Neighboring gene Sharpr-MPRA regulatory region 1693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20064 Neighboring gene ATM interactor pseudogene Neighboring gene OCT4 hESC enhancer GRCh37_chr9:98103789-98104290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98104577-98105078 Neighboring gene uncharacterized LOC105376155 Neighboring gene Sharpr-MPRA regulatory region 1060 Neighboring gene uncharacterized LOC105376156 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98173297-98173917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98173918-98174537 Neighboring gene metallothionein 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Waisfisz Q, et al. Nat Genet, 1999 Aug. PMID 10431244
    2. The Fanconi anemia group C gene product is located in both the nucleus and cytoplasm of human cells. Hoatlin ME, et al. Blood, 1998 Feb 15. PMID 9454773
    3. Novel mutations and polymorphisms in the Fanconi anemia group C gene. Gibson RA, et al. Hum Mutat, 1996. PMID 8844212
    4. Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC. Lo Ten Foe JR, et al. Hum Mutat, 1996. PMID 8829660
    5. Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Yamashita T, et al. Blood, 1996 May 15. PMID 8639804

    See all (158) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis.
      Title: In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis.
    2. Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
      Title: Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
    3. Zika virus depletes neural stem cells and evades selective autophagy by suppressing the Fanconi anemia protein FANCC.
      Title: Zika virus depletes neural stem cells and evades selective autophagy by suppressing the Fanconi anemia protein FANCC.
    4. Two truncating variants in FANCC and breast cancer risk.
      Title: Two truncating variants in FANCC and breast cancer risk.
    5. This study showed that featured-metabolic alterations are readouts of functional mechanisms underlying reduced tumorigenicity driven by FANCC, demonstrating close links among cancer, aging, inflammation and DM.
      Title: Fanconi Anemia complementation group C protein in metabolic disorders.
    6. The splice-site mutation in the FANCC gene (IVS4+4A>T) accounts for most cases of Fanconi anaemia in Ashkenazi Jewish cohorts worldwide.A founder mutation described in individuals of Ashkenazi Jewish ancestry is also found in South African individuals of this origin.
      Title: Fanconi anaemia in South Africa: Past, present and future.
    7. mutation IVS4+4A>T is the most prevalent mutation in our group of patients. This analysis of Pakistani patients also suggests that there is no significant difference between IVS4+4A>T homozygotes and the rest of the patients with regard to severity of clinical phenotype.
      Title: Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.
    8. The finding that FANCC overexpression reduced betacell apoptosis advances the potential for an alternative approach to the treatment of Diabetes mellitus caused by FANCC defects
      Title: Fanconi anemia complementation group C protection against oxidative stress‑induced β‑cell apoptosis.
    9. Lung adenocarcinomas in both male and female patients were associated with (a) genotypic polymorphisms of FANCC and FANCD1.
      Title: Fanconi anemia genes in lung adenocarcinoma- a pathway-wide study on cancer susceptibility.
    10. Israeli ATM, BLM, and FANCC heterozygous mutation carriers are not at an increased risk for developing cancer.
      Title: The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Fanconi anemia complementation group C
    MedGen: C3468041 OMIM: 227645 GeneReviews: Fanconi Anemia
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14675

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in germ cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in interstrand cross-link repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in myeloid cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuronal stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in removal of superoxide radicals IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Fanconi anaemia nuclear complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Fanconi anaemia nuclear complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Fanconi anaemia nuclear complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    Fanconi anemia group C protein
    Names
    Fanconi anemia complementation group C

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011707.1 RefSeqGene

      Range
      5001..223656
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_497

    mRNA and Protein(s)

    1. NM_000136.3 → NP_000127.2  Fanconi anemia group C protein isoform a

      See identical proteins and their annotated locations for NP_000127.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AU132608, BC015748, CB052780
      Consensus CDS
      CCDS35071.1
      UniProtKB/Swiss-Prot
      B1ALR8, Q00597
      UniProtKB/TrEMBL
      A0A024R9N2
      Related
      ENSP00000289081.3, ENST00000289081.8
      Conserved Domains (1) summary
      pfam02106
      Location:10 → 555
      Fanconi_C; Fanconi anaemia group C protein

    2. NM_001243743.2 → NP_001230672.1  Fanconi anemia group C protein isoform a

      See identical proteins and their annotated locations for NP_001230672.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL354893, BC015748, DB445119, X66894
      Consensus CDS
      CCDS35071.1
      UniProtKB/Swiss-Prot
      B1ALR8, Q00597
      UniProtKB/TrEMBL
      A0A024R9N2
      Related
      ENSP00000364454.1, ENST00000375305.6
      Conserved Domains (1) summary
      pfam02106
      Location:10 → 555
      Fanconi_C; Fanconi anaemia group C protein

    3. NM_001243744.2 → NP_001230673.1  Fanconi anemia group C protein isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AI280997, AK222871, AK304887, AL354893
      Consensus CDS
      CCDS75861.1
      UniProtKB/TrEMBL
      A0A087WW44
      Related
      ENSP00000479931.1, ENST00000490972.7
      Conserved Domains (1) summary
      pfam02106
      Location:10 → 481
      Fanconi_C; Fanconi anaemia group C protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      95099054..95317709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717001.4 → XP_006717064.1  Fanconi anemia group C protein isoform X2

      Conserved Domains (1) summary
      pfam02106
      Location:10 → 500
      Fanconi_C; Fanconi anaemia group C protein

    2. XM_047422951.1 → XP_047278907.1  Fanconi anemia group C protein isoform X2

    3. XM_047422950.1 → XP_047278906.1  Fanconi anemia group C protein isoform X2

    4. XM_024447451.2 → XP_024303219.1  Fanconi anemia group C protein isoform X1

      UniProtKB/Swiss-Prot
      B1ALR8, Q00597
      UniProtKB/TrEMBL
      A0A024R9N2
      Conserved Domains (1) summary
      pfam02106
      Location:10 → 555
      Fanconi_C; Fanconi anaemia group C protein

    5. XM_047422952.1 → XP_047278908.1  Fanconi anemia group C protein isoform X2

    6. XM_047422948.1 → XP_047278904.1  Fanconi anemia group C protein isoform X1

      UniProtKB/Swiss-Prot
      B1ALR8, Q00597
      UniProtKB/TrEMBL
      A0A024R9N2

    7. XM_047422949.1 → XP_047278905.1  Fanconi anemia group C protein isoform X1

      UniProtKB/Swiss-Prot
      B1ALR8, Q00597
      UniProtKB/TrEMBL
      A0A024R9N2

    8. XM_011518365.4 → XP_011516667.1  Fanconi anemia group C protein isoform X1

      See identical proteins and their annotated locations for XP_011516667.1

      UniProtKB/Swiss-Prot
      B1ALR8, Q00597
      UniProtKB/TrEMBL
      A0A024R9N2
      Conserved Domains (1) summary
      pfam02106
      Location:10 → 555
      Fanconi_C; Fanconi anaemia group C protein

    9. XM_047422958.1 → XP_047278914.1  Fanconi anemia group C protein isoform X7

    10. XM_047422957.1 → XP_047278913.1  Fanconi anemia group C protein isoform X7

    11. XM_005251802.4 → XP_005251859.1  Fanconi anemia group C protein isoform X9

      Conserved Domains (1) summary
      pfam02106
      Location:1 → 328
      Fanconi_C; Fanconi anaemia group C protein

    12. XM_006717002.5 → XP_006717065.1  Fanconi anemia group C protein isoform X4

      Conserved Domains (1) summary
      pfam02106
      Location:10 → 444
      Fanconi_C; Fanconi anaemia group C protein

    13. XM_047422956.1 → XP_047278912.1  Fanconi anemia group C protein isoform X6

    14. XM_047422954.1 → XP_047278910.1  Fanconi anemia group C protein isoform X3

      UniProtKB/TrEMBL
      A0A087WW44

    15. XM_047422953.1 → XP_047278909.1  Fanconi anemia group C protein isoform X3

      UniProtKB/TrEMBL
      A0A087WW44

    16. XM_011518366.4 → XP_011516668.1  Fanconi anemia group C protein isoform X5

      Conserved Domains (1) summary
      pfam02106
      Location:10 → 444
      Fanconi_C; Fanconi anaemia group C protein

    17. XM_047422955.1 → XP_047278911.1  Fanconi anemia group C protein isoform X5

    18. XM_006717004.4 → XP_006717067.1  Fanconi anemia group C protein isoform X8

      Conserved Domains (1) summary
      pfam02106
      Location:10 → 335
      Fanconi_C; Fanconi anaemia group C protein

    19. XM_047422959.1 → XP_047278915.1  Fanconi anemia group C protein isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      107268451..107487223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362314.1 → XP_054218289.1  Fanconi anemia group C protein isoform X2

    2. XM_054362312.1 → XP_054218287.1  Fanconi anemia group C protein isoform X1

      UniProtKB/Swiss-Prot
      B1ALR8, Q00597
      UniProtKB/TrEMBL
      A0A024R9N2

    3. XM_054362316.1 → XP_054218291.1  Fanconi anemia group C protein isoform X2

    4. XM_054362315.1 → XP_054218290.1  Fanconi anemia group C protein isoform X2

    5. XM_054362317.1 → XP_054218292.1  Fanconi anemia group C protein isoform X2

    6. XM_054362311.1 → XP_054218286.1  Fanconi anemia group C protein isoform X1

      UniProtKB/Swiss-Prot
      B1ALR8, Q00597
      UniProtKB/TrEMBL
      A0A024R9N2

    7. XM_054362313.1 → XP_054218288.1  Fanconi anemia group C protein isoform X1

      UniProtKB/Swiss-Prot
      B1ALR8, Q00597
      UniProtKB/TrEMBL
      A0A024R9N2

    8. XM_054362310.1 → XP_054218285.1  Fanconi anemia group C protein isoform X1

      UniProtKB/Swiss-Prot
      B1ALR8, Q00597
      UniProtKB/TrEMBL
      A0A024R9N2

    9. XM_054362324.1 → XP_054218299.1  Fanconi anemia group C protein isoform X7

    10. XM_054362327.1 → XP_054218302.1  Fanconi anemia group C protein isoform X9

    11. XM_054362320.1 → XP_054218295.1  Fanconi anemia group C protein isoform X4

    12. XM_054362323.1 → XP_054218298.1  Fanconi anemia group C protein isoform X6

    13. XM_054362319.1 → XP_054218294.1  Fanconi anemia group C protein isoform X3

      UniProtKB/TrEMBL
      A0A087WW44

    14. XM_054362318.1 → XP_054218293.1  Fanconi anemia group C protein isoform X3

      UniProtKB/TrEMBL
      A0A087WW44

    15. XM_054362321.1 → XP_054218296.1  Fanconi anemia group C protein isoform X5

    16. XM_054362322.1 → XP_054218297.1  Fanconi anemia group C protein isoform X5

    17. XM_054362325.1 → XP_054218300.1  Fanconi anemia group C protein isoform X8

    18. XM_054362326.1 → XP_054218301.1  Fanconi anemia group C protein isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q00597.1 GenPept UniProtKB/Swiss-Prot:Q00597

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