FANCF FA complementation group F [Homo sapiens (human)] - Gene

Summary

Official Symbol: FANCFprovided by HGNC
Official Full Name: FA complementation group Fprovided by HGNC
Primary source: HGNC:HGNC:3587
See related: Ensembl:ENSG00000183161 MIM:613897; AllianceGenome:HGNC:3587
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: FAF
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 F. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 11p14.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (22622533..22625823, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (22743288..22746579, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (22644079..22647369, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FANCF hypomethylation is associated with colorectal cancer in Han Chinese.
Title: FANCF hypomethylation is associated with colorectal cancer in Han Chinese.
A mutation in the FANCF gene in Iranian patients with Fanconi anemia. This new mutation correlates with a hematological problem (pancytopenia), short stature, and microcephaly and skin hyperpigmentation. Until now, no evidence of malignancy was detected.
Title: A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report.
LOH in FA genes appears to be a common feature of head and neck squamous cell carcinomas development seen here in 57% of patients and other mutation types may increase this mutation frequency. We suggest larger patient cohorts would be needed to test the observed association of LOH in FANCF and patient survival comprehensively
Title: Loss of heterozygosity in FANCG, FANCF and BRIP1 from head and neck squamous cell carcinoma of the oral cavity.
we report three patients who illustrate the clinical variability within the FA-F group. This analysis suggests a more severe phenotype for those with the common c.484_485delCT mutation.
Title: Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.
CpG island methylation of FANCF gene promoter region is strongly associated with the susceptibility and clinicopathologic features of epithelial ovarian cancer.
Title: Promoter Hypermethylation of FANCF and Susceptibility and Prognosis of Epithelial Ovarian Cancer.
careful examination of three electively aborted fetuses in one family and one affected girl in the other indicated an association of the FANCF loss-of-function mutation with a severe phenotype characterized by multiple malformations
Title: Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.
Using small interfering RNA (siRNA), knockdown of FANCF, FANCL, or FANCD2 inhibited function of the FA/BRCA pathway in A549, A549/DDP and SK-MES-1 cells, and potentiated sensitivity of the three cells to cisplatin.
Title: RNA interferences targeting the Fanconi anemia/BRCA pathway upstream genes reverse cisplatin resistance in drug-resistant lung cancer cells.
Data suggest that the Fanconi anemia group F protein/BRCA1/2 proteins pathway may be a new target to reverse adriamycin (ADR) resistance in leukemia treatment.
Title: The Fanconi anemia/BRCA pathway is involved in DNA interstrand cross-link repair of adriamycin-resistant leukemia cells.
Silencing of FANCF enhanced the antiproliferative effect of ADM in OVCAR3 cells.
Title: RNA interference-mediated FANCF silencing sensitizes OVCAR3 ovarian cancer cells to adriamycin through increased adriamycin-induced apoptosis dependent on JNK activation.
FANCF methylation is a rare event in Japanese primary invasive breast cancer.
Title: Low incidence of methylation of the promoter region of the FANCF gene in Japanese primary breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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 F MedGen: C3469526 OMIM: 603467 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78226 (e-PCR)
- UniSTS:67616

NoName (e-PCR)
- UniSTS:483136

WI-13404 (e-PCR)
- UniSTS:14674

D11S3114 (e-PCR)
- UniSTS:152207

RH12721 (e-PCR)
- UniSTS:82403

D11S4279 (e-PCR)
- UniSTS:12520

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 damage response	IBA Inferred from Biological aspect of Ancestor more info
involved_in interstrand cross-link repair	NAS Non-traceable Author Statement more info	PubMed

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 cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: Fanconi anemia group F protein

Names: Fanconi anemia complementation group F

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.