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Aliases for FANCA Gene

Aliases for FANCA Gene

  • Fanconi Anemia Complementation Group A 2 3 5
  • FANCH 3 4
  • FACA 3 4
  • FAA 3 4
  • Fanconi Anemia, Complementation Group A 3
  • Fanconi Anemia, Complementation Group H 3
  • Fanconi Anemia, Type 1 3
  • Protein FACA 4
  • FA-H 3
  • FA1 3
  • FAH 3
  • FA 3

External Ids for FANCA Gene

Previous HGNC Symbols for FANCA Gene

  • FACA
  • FANCH

Previous GeneCards Identifiers for FANCA Gene

  • GC16M081125
  • GC16M090792
  • GC16M089506
  • GC16M089547
  • GC16M088332
  • GC16M089803
  • GC16M075499

Summaries for FANCA Gene

Entrez Gene Summary for FANCA Gene

  • 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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for FANCA Gene

FANCA (Fanconi Anemia Complementation Group A) is a Protein Coding gene. Diseases associated with FANCA include fanconi anemia, complementation group a and fanca-related fanconi anemia. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism.

UniProtKB/Swiss-Prot for FANCA Gene

  • DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.

Gene Wiki entry for FANCA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCA Gene

Genomics for FANCA Gene

Regulatory Elements for FANCA Gene

Promoters for FANCA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FANCA on UCSC Golden Path with GeneCards custom track

Genomic Location for FANCA Gene

Chromosome:
16
Start:
89,737,549 bp from pter
End:
89,816,658 bp from pter
Size:
79,110 bases
Orientation:
Minus strand

Genomic View for FANCA Gene

Genes around FANCA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANCA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FANCA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCA Gene

Proteins for FANCA Gene

  • Protein details for FANCA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15360-FANCA_HUMAN
    Recommended name:
    Fanconi anemia group A protein
    Protein Accession:
    O15360
    Secondary Accessions:
    • A5D923
    • B4DRI7
    • H3BSR5
    • O75266
    • Q6PL10
    • Q92497
    • Q96H18
    • Q9UEA5
    • Q9UEL8
    • Q9UEL9
    • Q9UPK3
    • Q9Y6M2

    Protein attributes for FANCA Gene

    Size:
    1455 amino acids
    Molecular mass:
    162775 Da
    Quaternary structure:
    • Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCG and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. The complex with FANCC and FANCG may also include EIF2AK2 and HSP70. Interacts with FAAP20/C1orf86; interaction is direct.

    Alternative splice isoforms for FANCA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FANCA Gene

Proteomics data for FANCA Gene at MOPED

Post-translational modifications for FANCA Gene

  • Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from groups A, B, C, E, F, G, and H.
  • Ubiquitination at Lys 76, Lys 293, Lys 515, Lys 612, Lys 1199, Lys 1387, Lys 1398, and Lys 1413
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FANCA (FANCA)

No data available for DME Specific Peptides for FANCA Gene

Domains & Families for FANCA Gene

Gene Families for FANCA Gene

Protein Domains for FANCA Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FANCA: view

No data available for UniProtKB/Swiss-Prot for FANCA Gene

Function for FANCA Gene

Molecular function for FANCA Gene

GENATLAS Biochemistry:
putative nuclear protein with a nuclear localization signal and partial b leucine-zipper,involved in genomic stability and control of apoptosis,complexing with XRCC9
UniProtKB/Swiss-Prot Function:
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.
genes like me logo Genes that share phenotypes with FANCA: view

Human Phenotype Ontology for FANCA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FANCA Gene

MGI Knock Outs for FANCA:

Animal Model Products

  • Taconic Biosciences Mouse Models for FANCA

miRNA for FANCA Gene

miRTarBase miRNAs that target FANCA

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for FANCA Gene

Localization for FANCA Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCA Gene

Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FANCA Gene COMPARTMENTS Subcellular localization image for FANCA gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for FANCA Gene

Pathways & Interactions for FANCA Gene

genes like me logo Genes that share pathways with FANCA: view

SIGNOR curated interactions for FANCA Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FANCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly TAS 9398857
GO:0008585 female gonad development IEA --
GO:0042127 regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with FANCA: view

Drugs & Compounds for FANCA Gene

(4) Drugs for FANCA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for FANCA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FANCA: view

Transcripts for FANCA Gene

Unigene Clusters for FANCA Gene

Fanconi anemia, complementation group A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FANCA Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c · 17d ·
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12: - -
SP13:
SP14:
SP15:

ExUns: 17e ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27
SP1:
SP2:
SP3: -
SP4: - -
SP5: - -
SP6: - - -
SP7: - - - -
SP8:
SP9: -
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:

Relevant External Links for FANCA Gene

GeneLoc Exon Structure for
FANCA
ECgene alternative splicing isoforms for
FANCA

Expression for FANCA Gene

mRNA expression in normal human tissues for FANCA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FANCA Gene

This gene is overexpressed in Testis (x7.9).

Protein differential expression in normal tissues from HIPED for FANCA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (41.8), Bone (13.6), and Breast (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FANCA Gene



SOURCE GeneReport for Unigene cluster for FANCA Gene Hs.744083

genes like me logo Genes that share expression patterns with FANCA: view

Protein tissue co-expression partners for FANCA Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for FANCA Gene

Orthologs for FANCA Gene

This gene was present in the common ancestor of chordates.

Orthologs for FANCA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FANCA 35
  • 97.43 (n)
  • 96.92 (a)
FANCA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FANCA 36
  • 67 (a)
OneToOne
FANCA 35
  • 74.16 (n)
  • 68.05 (a)
dog
(Canis familiaris)
Mammalia FANCA 35
  • 77.02 (n)
  • 70.12 (a)
FANCA 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fanca 16
Fanca 36
  • 67 (a)
OneToOne
Fanca 35
  • 74.16 (n)
  • 67.13 (a)
oppossum
(Monodelphis domestica)
Mammalia FANCA 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fanca 35
  • 74.92 (n)
  • 68.41 (a)
chicken
(Gallus gallus)
Aves FANCA 35
  • 58.76 (n)
  • 50.32 (a)
FANCA 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCA 36
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fanca 35
  • 52.5 (n)
  • 43.06 (a)
Str.2946 35
zebrafish
(Danio rerio)
Actinopterygii FANCA 36
  • 28 (a)
OneToOne
fanca 35
  • 50.24 (n)
  • 37.93 (a)
Species with no ortholog for FANCA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FANCA Gene

ENSEMBL:
Gene Tree for FANCA (if available)
TreeFam:
Gene Tree for FANCA (if available)

Paralogs for FANCA Gene

genes like me logo Genes that share paralogs with FANCA: view

No data available for Paralogs for FANCA Gene

Variants for FANCA Gene

Sequence variations from dbSNP and Humsavar for FANCA Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_009637 -
VAR_009638 -
rs17232246 Fanconi anemia, complementation group A (FANCA) 89,808,348(-) TGAAG(C/T)GGTGT nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_009640 Fanconi anemia, complementation group A (FANCA)
rs17225943 Fanconi anemia, complementation group A (FANCA) 89,803,296(-) CTCAG(A/G)TCTGA nc-transcript-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for FANCA Gene

Variant ID Type Subtype PubMed ID
nsv428331 CNV Gain+Loss 18775914
dgv3008n71 CNV Loss 21882294
dgv3009n71 CNV Loss 21882294
nsv509639 CNV Insertion 20534489
nsv457623 CNV Gain 19166990
nsv907425 CNV Loss 21882294
nsv833330 CNV Loss 17160897
nsv907429 CNV Loss 21882294
nsv1931 CNV Insertion 18451855
nsv833331 CNV Gain+Loss 17160897
nsv907430 CNV Gain 21882294
nsv457624 CNV Loss 19166990
esv28489 CNV Loss 19812545
esv4738 CNV Deletion 18987735
esv2715202 CNV Deletion 23290073
esv1710087 CNV Deletion 17803354
esv1172602 CNV Deletion 17803354
nsv907431 CNV Loss 21882294
nsv457625 CNV Loss 19166990
nsv907432 CNV Loss 21882294
nsv907433 CNV Loss 21882294
dgv923e1 CNV Complex 17122850
dgv3013n71 CNV Loss 21882294
dgv3014n71 CNV Loss 21882294
dgv3015n71 CNV Loss 21882294

Variation tolerance for FANCA Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.81; 83.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FANCA Gene

HapMap Linkage Disequilibrium report
FANCA
Human Gene Mutation Database (HGMD)
FANCA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCA Gene

Disorders for FANCA Gene

MalaCards: The human disease database

(14) MalaCards diseases for FANCA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanconi's anemia
fanca-related fanconi anemia
glioma susceptibility 9
  • glioma 9
congenital hypoplastic anemia
  • congenital aplastic anemia
fanconi anemia, complementation group t
  • fanconi anemia complementation group t
- elite association - COSMIC cancer census association via MalaCards
Search FANCA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FANCA_HUMAN
  • Fanconi anemia, complementation group A (FANCA) [MIM:227650]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:10094191, ECO:0000269 PubMed:10210316, ECO:0000269 PubMed:10521298, ECO:0000269 PubMed:10807541, ECO:0000269 PubMed:11091222, ECO:0000269 PubMed:17924555, ECO:0000269 PubMed:9371798, ECO:0000269 PubMed:9399890, ECO:0000269 PubMed:9929978}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for FANCA Gene

Fanconi anemia,autosomal recessive,complementation group A,representing more than 50% of cases,with high frequency of somatic mosaicism,characterized by progressive bone marrow failure (pancytopenia),often associated with skeletal abnormalities and an increased cancer risk and with spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents

Relevant External Links for FANCA

Genetic Association Database (GAD)
FANCA
Human Genome Epidemiology (HuGE) Navigator
FANCA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FANCA
genes like me logo Genes that share disorders with FANCA: view

Publications for FANCA Gene

  1. A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. (PMID: 10210316) Kupfer G. … D'Andrea A.D. (Exp. Hematol. 1999) 3 4 23 67
  2. Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3. (PMID: 7581462) Pronk J.C. … Jansen S. (Nat. Genet. 1995) 2 3 23
  3. Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer. (PMID: 19012493) Wang S.S. … Hildesheim A. (J. Infect. Dis. 2009) 3 23
  4. ATR-dependent phosphorylation of FANCA on serine 1449 after DNA damage is important for FA pathway function. (PMID: 19109555) Collins N.B. … Kupfer G.M. (Blood 2009) 3 23
  5. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S. … Benhamou S. (Carcinogenesis 2009) 3 23

Products for FANCA Gene

Sources for FANCA Gene

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