Free for academic non-profit institutions. Other users need a Commercial license

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 H 3
  • Fanconi Anemia Group A Protein 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 Congenital Hypoplastic Anemia. Among its related pathways are Fanconi anemia pathway and BARD1 signaling events.

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

Enhancers for FANCA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F089763 0.4 ENCODE 28.9 +52.0 51987 2.9 HDGF PKNOX1 MLX WRNIP1 ARID4B SLC30A9 ZNF143 SP5 JUNB TBX21 FANCA CDK10 SPIRE2 VPS9D1 ZNF276 SPATA2L GAS8 PIR55781
GH16F089760 1 Ensembl ENCODE 26 +55.1 55072 2.3 ATF1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF121 GLIS2 FANCA CDK10 SPIRE2 VPS9D1 ZNF276 SPATA2L DBNDD1 PIR55781
GH16F089846 0.5 ENCODE 25 -30.9 -30889 1.5 KLF1 CDC5L ZIC2 ZNF48 ZKSCAN1 MTA3 ZFHX2 POLR2A ZNF207 ZNF652 FANCA SPIRE2 DBNDD1 CDK10 TRAPPC2L SPATA2L VPS9D1 ZNF276 LOC105371419
GH16F089845 1 Ensembl ENCODE 22.6 -29.0 -28964 0.4 CTCF SSRP1 POLR2A ZBTB33 FANCA SPIRE2 SPATA2L ZNF276 VPS9D1 LOC105371419
GH16F089825 0.5 FANTOM5 ENCODE 20.5 -11.7 -11651 5.2 ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 GLIS2 CDK10 FANCA SPIRE2 LOC105371419
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FANCA on UCSC Golden Path with GeneCards custom track

Promoters for FANCA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001404961 158 2601 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS

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

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)
  • Abcam antibodies for 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.

Gene Ontology (GO) - Molecular Function for FANCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10627486
genes like me logo Genes that share ontologies with FANCA: view
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

miRNA for FANCA Gene

miRTarBase miRNAs that target FANCA

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Gene Ontology (GO) - Cellular Components for FANCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11726552
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
GO:0043240 Fanconi anaemia nuclear complex IDA 20347428
genes like me logo Genes that share ontologies with FANCA: view

Pathways & Interactions for FANCA Gene

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

Pathways by source for FANCA Gene

1 Cell Signaling Technology pathway for FANCA Gene
1 BioSystems pathway for FANCA Gene
2 Reactome pathways for FANCA Gene
1 KEGG pathway for FANCA Gene

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:0006281 DNA repair IEA,TAS 8896564
GO:0006461 protein complex assembly TAS 9398857
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007140 male meiosis IEA --
GO:0008584 male gonad development IEA --
genes like me logo Genes that share ontologies with FANCA: view

Drugs & Compounds for FANCA Gene

(6) Drugs for FANCA Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rucaparib Approved, Investigational Pharma PARP inhibitor, PARP Inhibitors, Other 14
Poly(ADP-ribose) Polymerase Inhibitors Pharma 309

(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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FANCA Gene



Protein tissue co-expression partners for FANCA Gene

NURSA nuclear receptor signaling pathways regulating expression of FANCA Gene:

FANCA

SOURCE GeneReport for Unigene cluster for FANCA Gene:

Hs.744083
genes like me logo Genes that share expression patterns with FANCA: view

Primer 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 34 35
  • 97.43 (n)
dog
(Canis familiaris)
Mammalia FANCA 34 35
  • 77.02 (n)
rat
(Rattus norvegicus)
Mammalia Fanca 34
  • 74.92 (n)
cow
(Bos Taurus)
Mammalia FANCA 34 35
  • 74.16 (n)
mouse
(Mus musculus)
Mammalia Fanca 34 16 35
  • 74.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 58 (a)
OneToMany
-- 35
  • 57 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia FANCA 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves FANCA 34 35
  • 58.76 (n)
lizard
(Anolis carolinensis)
Reptilia FANCA 35
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fanca 34
  • 52.5 (n)
Str.2946 34
zebrafish
(Danio rerio)
Actinopterygii fanca 34
  • 50.24 (n)
FANCA 35
  • 28 (a)
OneToOne
Species where no ortholog for FANCA was found in the sources mined by GeneCards:
  • 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
rs148473140 Fanconi anemia, complementation group A (FANCA) [MIM:227650] 89,791,459(+) CTGGC(A/G)CACAA intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense
rs149277003 Fanconi anemia, complementation group A (FANCA) [MIM:227650], Pathogenic 89,746,890(+) GTTTC(C/T)CTGCA nc-transcript-variant, reference, missense
rs149851163 Fanconi anemia, complementation group A (FANCA) [MIM:227650] 89,738,943(+) AAAGA(C/T)GAGCT nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon, missense, utr-variant-3-prime
rs17225943 Fanconi anemia, complementation group A (FANCA) [MIM:227650], Benign 89,803,296(-) CTCAG(A/G)TCTGA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs17227403 Fanconi anemia, complementation group A (FANCA) [MIM:227650], Uncertain significance 89,738,893(+) TCTCA(C/G)ACGTG nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv872e212 CNV loss 25503493
dgv873e212 CNV loss 25503493
dgv874e212 CNV loss 25503493
dgv875e212 CNV loss 25503493
esv1172602 CNV deletion 17803354
esv1710087 CNV deletion 17803354
esv2715202 CNV deletion 23290073
esv2758671 CNV loss 17122850
esv2760425 CNV loss 21179565
esv2762221 CNV gain+loss 21179565
esv28489 CNV loss 19812545
esv3181568 CNV deletion 24192839
esv3553913 CNV deletion 23714750
esv3572253 CNV gain 25503493
esv3639594 CNV loss 21293372
esv3639595 CNV loss 21293372
esv3639596 CNV loss 21293372
esv3639597 CNV loss 21293372
esv3639598 CNV loss 21293372
esv3639599 CNV gain 21293372
esv4738 CNV loss 18987735
nsv1059154 CNV loss 25217958
nsv1059577 CNV loss 25217958
nsv1931 CNV insertion 18451855
nsv428331 CNV gain+loss 18775914
nsv457623 CNV gain 19166990
nsv457624 CNV loss 19166990
nsv457625 CNV loss 19166990
nsv482951 CNV loss 15286789
nsv509639 CNV insertion 20534489
nsv573743 CNV gain 21841781
nsv573744 CNV loss 21841781
nsv573745 CNV loss 21841781
nsv833330 CNV loss 17160897
nsv833331 CNV gain+loss 17160897
nsv952079 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
FANCA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FANCA

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

Disorders for FANCA Gene

MalaCards: The human disease database

(10) 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
congenital hypoplastic anemia
  • congenital aplastic anemia
fanconi renotubular syndrome 1
  • fanconi-bickel syndrome
fanca-related fanconi anemia
fanconi anemia, complementation group e
  • faces syndrome
- 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. 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 22 46 64
  2. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S. … Benhamou S. (Carcinogenesis 2009) 3 22 46 64
  3. A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer. (PMID: 15860134) Thompson E. … Dobrovic A. (BMC Cancer 2005) 3 22 46 64
  4. The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR). (PMID: 15299030) Zhang X. … Pang Q. (J. Biol. Chem. 2004) 3 4 22 64
  5. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. (PMID: 10807541) Yamada T. … Sasaki M.S. (J. Hum. Genet. 2000) 3 4 22 64

Products for FANCA Gene

Sources for FANCA Gene

Content
Loading form....