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

Gene ID: 2178, updated on 7-Dec-2018

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

Genomic context

See FANCE in Genome Data Viewer
Location:
6p21.31
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (35452339..35467106)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35420116..35434918)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene peroxisome proliferator activated receptor delta 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    BARD1 signaling events, organism-specific biosystem
    BARD1 signaling events
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • FA core complex, organism-specific biosystem (from KEGG)
    FA core complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • FA core complex, conserved biosystem (from KEGG)
    FA core complex, conserved biosystemStructural complex; Genetic information processing; Repair system
  • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Fanconi anaemia nuclear complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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_021922.2NP_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, ENST00000229769.2
    Conserved Domains (1) summary
    pfam11510
    Location:274535
    FA_FANCE; Fanconi Anaemia group E protein FANCE

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    35452339..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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