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

Gene ID: 2178, updated on 7-Apr-2024

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; AllianceGenome:HGNC:3586
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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Location:
6p21.31
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (35452338..35467102)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (35275414..35290178)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35420115..35434879)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24399 Neighboring gene peroxisome proliferator activated receptor delta Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35328305-35329201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35351066-35351668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35359676-35360244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35378432-35378965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35378966-35379498 Neighboring gene Sharpr-MPRA regulatory region 9405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17092 Neighboring gene makorin ring finger protein 6, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24405 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35435944-35436500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35447729-35448229 Neighboring gene microRNA 7111 Neighboring gene ribosomal protein L10a Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35453191-35453766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35454343-35454918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35456069-35456644 Neighboring gene TEA domain transcription factor 3 Neighboring gene VISTA enhancer hs1887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35463100-35463885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35464832-35465762

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. Histological and transcriptomic analysis of Fance-deficient PGCs reveal the possible mechanisms of their depletion. Suye S, et al. Reproduction, 2023 Jul 1. PMID 37184052
  2. Fanconi Anemia Complementation Group E, a DNA Repair-Related Gene, Is a Potential Marker of Poor Prognosis in Hepatocellular Carcinoma. Takahashi J, et al. Oncology, 2022. PMID 34724663
  3. Comprehensive analysis of macrophage-related multigene signature in the tumor microenvironment of head and neck squamous cancer. Lin B, et al. Aging (Albany NY), 2021 Feb 11. PMID 33592580, Free PMC Article
  4. 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
  5. Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. Wegner RD, et al. Clin Genet, 1996 Dec. PMID 9147877

See all (66) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Histological and transcriptomic analysis of Fance-deficient PGCs reveal the possible mechanisms of their depletion.
    Title: Histological and transcriptomic analysis of Fance-deficient PGCs reveal the possible mechanisms of their depletion.
  2. Fanconi Anemia Complementation Group E, a DNA Repair-Related Gene, Is a Potential Marker of Poor Prognosis in Hepatocellular Carcinoma.
    Title: Fanconi Anemia Complementation Group E, a DNA Repair-Related Gene, Is a Potential Marker of Poor Prognosis in Hepatocellular Carcinoma.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  9. 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.
  10. This Fanconi anemia protein promotes the nuclear accumulation of FANCC.
    Title: The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC.
Submit: New GeneRIF Correction See all GeneRIFs (14)

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
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EBI GWAS Catalog

Description
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
EBI GWAS Catalog

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 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 centrosome IDA
Inferred from Direct Assay
more info
  
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromosome IDA
Inferred from Direct Assay
more info
  
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
  
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_001410876.1 → NP_001397805.1  Fanconi anemia group E protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL022721
    Consensus CDS
    CCDS93899.1
    UniProtKB/TrEMBL
    A0A8Q3WL50
    Related
    ENSP00000512511.1, ENST00000696264.1

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

    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
    A8K907, Q4ZGH2, Q9HB96
    UniProtKB/TrEMBL
    A0A3B3ITU7
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    35452338..35467102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248887.3 → XP_005248944.1  Fanconi anemia group E protein isoform X3

    UniProtKB/TrEMBL
    A0A3B3ITU7
    Conserved Domains (1) summary
    cl12008
    Location:274 → 493
    FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain

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

    UniProtKB/TrEMBL
    A0A3B3ITU7
    Conserved Domains (1) summary
    pfam11510
    Location:274 → 528
    FA_FANCE; Fanconi Anaemia group E protein FANCE

  3. XM_005248886.3 → XP_005248943.1  Fanconi anemia group E protein isoform X2

    UniProtKB/TrEMBL
    A0A3B3ITU7
    Conserved Domains (1) summary
    cl12008
    Location:274 → 512
    FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain

  4. XM_047418300.1 → XP_047274256.1  Fanconi anemia group E protein isoform X4

  5. XM_047418303.1 → XP_047274259.1  Fanconi anemia group E protein isoform X7

  6. XM_047418301.1 → XP_047274257.1  Fanconi anemia group E protein isoform X5

    UniProtKB/TrEMBL
    A0A8Q3WMB8
    Related
    ENSP00000512512.1, ENST00000696265.1

  7. XM_047418302.1 → XP_047274258.1  Fanconi anemia group E protein isoform X6

  8. XM_011514343.3 → XP_011512645.1  Fanconi anemia group E protein isoform X6

    See identical proteins and their annotated locations for XP_011512645.1

    UniProtKB/TrEMBL
    A0A3B3ITU7
    Conserved Domains (1) summary
    pfam11510
    Location:176 → 437
    FA_FANCE; Fanconi Anaemia group E protein FANCE

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    35275414..35290178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354496.1 → XP_054210471.1  Fanconi anemia group E protein isoform X3

  2. XM_054354494.1 → XP_054210469.1  Fanconi anemia group E protein isoform X1

  3. XM_054354495.1 → XP_054210470.1  Fanconi anemia group E protein isoform X2

  4. XM_054354497.1 → XP_054210472.1  Fanconi anemia group E protein isoform X4

  5. XM_054354501.1 → XP_054210476.1  Fanconi anemia group E protein isoform X7

  6. XM_054354498.1 → XP_054210473.1  Fanconi anemia group E protein isoform X5

    UniProtKB/TrEMBL
    A0A8Q3WMB8

  7. XM_054354500.1 → XP_054210475.1  Fanconi anemia group E protein isoform X6

  8. XM_054354499.1 → XP_054210474.1  Fanconi anemia group E protein isoform X6

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

Gene LinkOut

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