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

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See FANCE in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Fanconi anemia complementation group E
    MedGen: C3160739 OMIM: 600901 GeneReviews: Fanconi Anemia
    Compare labs

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    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_011708.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001410876.1NP_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_021922.3NP_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:274535
      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_005248887.3XP_005248944.1  Fanconi anemia group E protein isoform X3

      UniProtKB/TrEMBL
      A0A3B3ITU7
      Conserved Domains (1) summary
      cl12008
      Location:274493
      FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain
    2. XM_005248885.3XP_005248942.1  Fanconi anemia group E protein isoform X1

      UniProtKB/TrEMBL
      A0A3B3ITU7
      Conserved Domains (1) summary
      pfam11510
      Location:274528
      FA_FANCE; Fanconi Anaemia group E protein FANCE
    3. XM_005248886.3XP_005248943.1  Fanconi anemia group E protein isoform X2

      UniProtKB/TrEMBL
      A0A3B3ITU7
      Conserved Domains (1) summary
      cl12008
      Location:274512
      FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain
    4. XM_047418300.1XP_047274256.1  Fanconi anemia group E protein isoform X4

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

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

      UniProtKB/TrEMBL
      A0A8Q3WMB8
      Related
      ENSP00000512512.1, ENST00000696265.1
    7. XM_047418302.1XP_047274258.1  Fanconi anemia group E protein isoform X6

    8. XM_011514343.3XP_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:176437
      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_054354496.1XP_054210471.1  Fanconi anemia group E protein isoform X3

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

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

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

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

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

      UniProtKB/TrEMBL
      A0A8Q3WMB8
    7. XM_054354500.1XP_054210475.1  Fanconi anemia group E protein isoform X6

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