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

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

    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
    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

    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

    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 Compare labs
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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

    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_021922.3NP_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:274535
      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_005248887.2XP_005248944.1  Fanconi anemia group E protein isoform X3

      Conserved Domains (1) summary
      cl12008
      Location:274493
      FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain
    2. XM_005248888.3XP_005248945.1  Fanconi anemia group E protein isoform X4

      Conserved Domains (1) summary
      cl12008
      Location:274446
      FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain
    3. XM_005248885.2XP_005248942.1  Fanconi anemia group E protein isoform X1

      Conserved Domains (1) summary
      pfam11510
      Location:274528
      FA_FANCE; Fanconi Anaemia group E protein FANCE
    4. XM_005248886.2XP_005248943.1  Fanconi anemia group E protein isoform X2

      Conserved Domains (1) summary
      cl12008
      Location:274512
      FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain
    5. XM_011514343.2XP_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:176437
      FA_FANCE; Fanconi Anaemia group E protein FANCE

    RNA

    1. XR_002956267.1 RNA Sequence

    2. XR_001743226.1 RNA Sequence

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