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

Gene ID: 2176, updated on 2-Nov-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
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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
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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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