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    FANCE FA complementation group E [ Homo sapiens (human) ]

    Gene ID: 2178, updated on 26-Jul-2021

    Summary

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    Official Symbol
    FANCEprovided by HGNC
    Official Full Name
    FA complementation group Eprovided by HGNC
    Primary source
    HGNC:HGNC:3586
    See related
    Ensembl:ENSG00000112039 MIM:613976
    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
    FAE; FACE
    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 E. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 5.1), testis (RPKM 5.0) and 24 other tissues See more
    Orthologs
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    Genomic context

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    See FANCE in Genome Data Viewer
    Location:
    6p21.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (35452338..35467106)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35420115..35434879)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9405 Neighboring gene makorin ring finger protein 6, pseudogene Neighboring gene ribosomal protein L10a Neighboring gene microRNA 7111 Neighboring gene TEA domain transcription factor 3 Neighboring gene VISTA enhancer hs1887

    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. The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. Waisfisz Q, et al. Am J Hum Genet, 1999 May. PMID 10205272, Free PMC Article
    2. Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. Wegner RD, et al. Clin Genet, 1996 Dec. PMID 9147877
    3. Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Joenje H, et al. Blood, 1995 Sep 15. PMID 7662964
    4. Insights into Fanconi Anaemia from the structure of human FANCE. Nookala RK, et al. Nucleic Acids Res, 2007. PMID 17308347, Free PMC Article
    5. Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway. Wang X, et al. Mol Cell Biol, 2007 Apr. PMID 17296736, Free PMC Article

    See all (60) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive analysis of macrophage-related multigene signature in the tumor microenvironment of head and neck squamous cancer.
      Title: Comprehensive analysis of macrophage-related multigene signature in the tumor microenvironment of head and neck squamous cancer.
    2. A novel alternative splicing event of the FANCE gene has been characterized. FANCEDelta4 cannot support the activation of the FANC-BRCA pathway and DNA repair.
      Title: Analysis of a FANCE Splice Isoform in Regard to DNA Repair.
    3. a phenylalanine located at the highly conserved extreme C terminus, referred to as Phe-522, is a critical residue for mediating the monoubiquitination of the FANCD2-FANCI complex.
      Title: The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway.
    4. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.
    5. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    7. Chk1-mediated phosphorylation of FANCE is required for a function independent of FANCD2 monoubiquitination.
      Title: Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway.
    8. This Fanconi anemia protein promotes the nuclear accumulation of FANCC.
      Title: The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC.
    9. Disease-associated mutations disrupt the FANCE-FANCD2 interaction, providing structural insight into the molecular mechanisms of Fanconi Anaemia pathogenesis.
      Title: Insights into Fanconi Anaemia from the structure of human FANCE.
    10. FANCE protein is part of the FA nuclear complex, binding FANCC & FANCD2. It is required for the nuclear accumulation of FANCC and provides a bridge between the FA complex and FANCD2. FANCC mutants do not bind FANCE or prevent chromosome breakage.
      Title: FANCE: the link between Fanconi anaemia complex assembly and activity.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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 E
    MedGen: C3160739 OMIM: 600901 GeneReviews: Fanconi Anemia, Esophageal Atresia/Tracheoesophageal Fistula Overview
    		Compare labs
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    GeneReviews: Not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in interstrand cross-link repair 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
    		 PubMed 
    part_of Fanconi anaemia nuclear complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    Fanconi anemia group E protein
    Names
    Fanconi anemia complementation group E

    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_011708.1 RefSeqGene

      Range
      5001..19744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_498

    mRNA and Protein(s)

    1. NM_021922.3 → NP_068741.1  Fanconi anemia group E protein

      See identical proteins and their annotated locations for NP_068741.1

      Status: REVIEWED

      Source sequence(s)
      AF265210, AL022721
      Consensus CDS
      CCDS4805.1
      UniProtKB/Swiss-Prot
      Q9HB96
      Related
      ENSP00000229769.2, ENST00000229769.3
      Conserved Domains (1) summary
      pfam11510
      Location:274 → 535
      FA_FANCE; Fanconi Anaemia group E protein FANCE

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      35452338..35467106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248887.2 → XP_005248944.1  Fanconi anemia group E protein isoform X3

      Conserved Domains (1) summary
      cl12008
      Location:274 → 493
      FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain

    2. XM_005248888.3 → XP_005248945.1  Fanconi anemia group E protein isoform X4

      Conserved Domains (1) summary
      cl12008
      Location:274 → 446
      FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain

    3. XM_005248885.2 → XP_005248942.1  Fanconi anemia group E protein isoform X1

      Conserved Domains (1) summary
      pfam11510
      Location:274 → 528
      FA_FANCE; Fanconi Anaemia group E protein FANCE

    4. XM_005248886.2 → XP_005248943.1  Fanconi anemia group E protein isoform X2

      Conserved Domains (1) summary
      cl12008
      Location:274 → 512
      FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain

    5. XM_011514343.2 → XP_011512645.1  Fanconi anemia group E protein isoform X5

      See identical proteins and their annotated locations for XP_011512645.1

      Conserved Domains (1) summary
      pfam11510
      Location:176 → 437
      FA_FANCE; Fanconi Anaemia group E protein FANCE

    RNA

    1. XR_002956267.1 RNA Sequence

    2. XR_001743226.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HB96.1 GenPept UniProtKB/Swiss-Prot:Q9HB96

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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