U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 2188, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FANCF in Genome Data Viewer
    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_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1495 Neighboring gene uncharacterized LOC105376588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4534 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:22646933-22647832 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:22656570-22657334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3206 Neighboring gene growth arrest specific 2 Neighboring gene RNA, 5S ribosomal pseudogene 338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4538 Neighboring gene Sharpr-MPRA regulatory region 5411 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:22813641-22814840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4539 Neighboring gene long intergenic non-protein coding RNA 2718 Neighboring gene small VCP interacting protein

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126856

    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

    Preferred Names
    Fanconi anemia group F protein
    Names
    Fanconi anemia complementation group F

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007425.1 RefSeqGene

      Range
      5001..8309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_527

    mRNA and Protein(s)

    1. NM_022725.4NP_073562.1  Fanconi anemia group F protein

      See identical proteins and their annotated locations for NP_073562.1

      Status: REVIEWED

      Source sequence(s)
      AC103801
      Consensus CDS
      CCDS7857.1
      UniProtKB/Swiss-Prot
      Q52LM0, Q9NPI8
      UniProtKB/TrEMBL
      A3KME0, Q53FK7
      Related
      ENSP00000330875.3, ENST00000327470.6
      Conserved Domains (1) summary
      pfam11107
      Location:1354
      FANCF; Fanconi anemia group F protein (FANCF)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      22622533..22625823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      22743288..22746579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)