Human Gene FANCA (uc002fow.1) Description and Page Index
Description: Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 2, mRNA. RefSeq Summary (NM_001018112): 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]. Transcript (Including UTRs) Position: hg19 chr16:89,864,767-89,883,065 Size: 18,299 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr16:89,865,487-89,883,023 Size: 17,537 Coding Exon Count: 11
Caffeine Marilyn C Cornelis et al. PLoS genetics 2011, Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption., PLoS genetics.
cervical intraepithelial neoplasia grade 3 Sophia S Wang , et al. The Journal of infectious diseases 2009 199(1):20-30, Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer., The Journal of infectious diseases 2009 199(1):20-30.
Our results require replication but support the role of FANCA variants in cervical cancer susceptibility and of IRF3 in HPV persistence.
Hair Color Nicholas Eriksson et al. PLoS genetics 2010, Web-based, participant-driven studies yield novel genetic associations for common traits., PLoS genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF15865 - Fanconi anaemia group A protein N terminus
ModBase Predicted Comparative 3D Structure on O15360-2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
X99226 - H.sapiens mRNA for FAA protein. AK299282 - Homo sapiens cDNA FLJ61351 complete cds, highly similar to Fanconi anemia group A protein. BC156522 - Synthetic construct Homo sapiens clone IMAGE:100063088, MGC:190686 Fanconi anemia, complementation group A (FANCA) mRNA, encodes complete protein. BC172515 - Synthetic construct Homo sapiens clone IMAGE:100069209, MGC:199220 Fanconi anemia, complementation group A (FANCA) mRNA, encodes complete protein. AY339878 - Homo sapiens nonfunctional Fanconi anemia complementation group A variant mRNA; alternatively spliced. BC022498 - Homo sapiens Fanconi anemia, complementation group A, mRNA (cDNA clone IMAGE:4800187), with apparent retained intron. BC008979 - Homo sapiens Fanconi anemia, complementation group A, mRNA (cDNA clone IMAGE:3456104), complete cds. BC064540 - Homo sapiens Fanconi anemia, complementation group A, mRNA (cDNA clone IMAGE:5725803), complete cds. BC120979 - Homo sapiens Fanconi anemia, complementation group A, mRNA (cDNA clone IMAGE:40115594), complete cds. BC127633 - Homo sapiens Fanconi anemia, complementation group A, mRNA (cDNA clone IMAGE:40115596), complete cds. BC120978 - Homo sapiens Fanconi anemia, complementation group A, mRNA (cDNA clone IMAGE:40115593), complete cds. BC141971 - Homo sapiens Fanconi anemia, complementation group A, mRNA (cDNA clone IMAGE:40115598), complete cds. BC141972 - Homo sapiens Fanconi anemia, complementation group A, mRNA (cDNA clone IMAGE:40115599), complete cds. BT007366 - Homo sapiens Fanconi anemia, complementation group A mRNA, complete cds. JD485193 - Sequence 466217 from Patent EP1572962. JD458559 - Sequence 439583 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_bard1Pathway - BRCA1-dependent Ub-ligase activity h_atrbrcaPathway - Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility