Aliases for FANCA Gene
Aliases for FANCA Gene
External Ids for FANCA Gene
- HGNC: 3582
- Entrez Gene: 2175
- Ensembl: ENSG00000187741
- OMIM: 607139
- UniProtKB: O15360
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
-
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 Fanconi anemia pathway and Chks in Checkpoint Regulation.
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.
No data available for CIViC summary , 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FANCA on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FANCA gene promoter:
Regulatory Element Products
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:
-
- 16q24.3 by Ensembl
- 16q24.3 by Entrez Gene
- 16q24.3 by HGNC
FANCA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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 Lys76, Lys293, isoforms=3515, isoforms=3612, isoforms=31199, Lys1387, Lys1398, and Lys1413
- Modification sites at PhosphoSitePlus
Other Protein References for FANCA Gene
- ENSEMBL proteins:
-
- ENSP00000373953
- ENSP00000443409
- ENSP00000443675
- ENSP00000454217
- ENSP00000454977
- ENSP00000455941
- ENSP00000455946
- ENSP00000455969
- ENSP00000455974
- ENSP00000456443
- ENSP00000456481
- ENSP00000456588
- ENSP00000456608
- ENSP00000456722
- ENSP00000456762
- ENSP00000456829
- ENSP00000456993
- ENSP00000457006
- ENSP00000457027
- ENSP00000457647
- ENSP00000457970
- ENSP00000373952
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for FANCA
- R&D Systems Antibodies for FANCA (FACA/FANCA)
- Cell Signaling Technology (CST) Antibodies for FANCA (FANCA)
-
Custom Antibody ServicesOriGene Antibodies for FANCA
- Novus Biologicals Antibodies for FANCA
-
Abcam antibodies for FANCA
- Invitrogen Antibodies for FANCA
- antibodies-online Antibodies for FANCA: See all 106
- GeneTex FANCA antibody for FANCA
Protein Products
-
OriGene Purified Proteins for FANCA
- Search Origene for MassSpec and Protein Over-expression Lysates for FANCA
- Origene Custom Protein Services for FANCA
- Sino Biological Cell Lysates for FANCA
- Sino Biological Recombinant Proteins for FANCA
- antibodies-online Proteins for FANCA: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FANCA
-
Abcam proteins for FANCA
Assay Products
- antibodies-online Kits for FANCA: See all 2
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FANCA Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 10627486 |
Phenotypes for FANCA Gene
- MGI mutant phenotypes for FANCA:
-
inferred from 5 alleles
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for FANCA:
-
- Increased gamma-H2AX phosphorylation
- Synthetic lethal with Ras
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased ionizing radiation sensitivity
- Decreased viability ratio
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased homologous recombination repair frequency
- Decreased shRNA abundance
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Models for FANCA Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for FANCA gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FANCA gene
- Search ViGene Biosciences for FANCA
CRISPR Products
-
OriGene CRISPR knockouts for FANCA
-
Santa Cruz Biotechnology (SCBT) CRISPR for FANCA
- GenScript: Design CRISPR guide RNA sequences for FANCA
miRNA for FANCA Gene
- miRTarBase miRNAs that target FANCA
-
- hsa-mir-193b-3p (MIRT016287)
- hsa-mir-17-5p (MIRT050966)
- hsa-mir-503-5p (MIRT437350)
- hsa-mir-5089-5p (MIRT514458)
- hsa-mir-6807-5p (MIRT514459)
- hsa-mir-4731-5p (MIRT514460)
- hsa-mir-5589-5p (MIRT514461)
- hsa-mir-6786-3p (MIRT514462)
- hsa-mir-6506-5p (MIRT514463)
- hsa-mir-619-5p (MIRT514464)
- hsa-mir-512-3p (MIRT514465)
- hsa-mir-520e (MIRT514466)
- hsa-mir-520d-3p (MIRT514467)
- hsa-mir-520c-3p (MIRT514468)
- hsa-mir-520b (MIRT514469)
- hsa-mir-520a-3p (MIRT514470)
- hsa-mir-373-3p (MIRT514471)
- hsa-mir-372-3p (MIRT514472)
- hsa-mir-302e (MIRT514473)
- hsa-mir-302d-3p (MIRT514474)
- hsa-mir-302c-3p (MIRT514475)
- hsa-mir-302b-3p (MIRT514476)
- hsa-mir-302a-3p (MIRT514477)
- hsa-mir-1227-5p (MIRT525304)
- hsa-mir-1224-5p (MIRT525305)
- hsa-mir-7843-3p (MIRT525306)
- hsa-mir-4755-3p (MIRT525307)
- hsa-mir-4751 (MIRT525308)
- hsa-mir-5004-5p (MIRT525309)
- hsa-mir-4786-3p (MIRT525310)
- hsa-mir-544b (MIRT525311)
- hsa-mir-1224-3p (MIRT525312)
- hsa-mir-3937 (MIRT525313)
- hsa-mir-3622b-3p (MIRT525314)
- hsa-mir-3622a-3p (MIRT525315)
- hsa-mir-6895-5p (MIRT525316)
- hsa-mir-140-3p (MIRT525317)
- hsa-mir-4726-5p (MIRT570781)
- hsa-mir-4640-5p (MIRT570782)
- hsa-mir-4664-3p (MIRT615008)
- hsa-mir-1180-3p (MIRT615009)
- hsa-mir-4497 (MIRT615010)
- hsa-mir-6799-5p (MIRT640264)
- hsa-mir-1247-3p (MIRT640265)
- hsa-mir-5587-3p (MIRT640266)
- hsa-mir-6840-5p (MIRT640267)
- hsa-mir-6783-3p (MIRT661253)
- hsa-mir-1343-3p (MIRT661254)
- hsa-mir-4268 (MIRT661255)
- hsa-mir-2276-3p (MIRT661256)
- hsa-mir-1236-3p (MIRT661257)
- hsa-mir-6787-3p (MIRT661258)
- hsa-mir-877-3p (MIRT661259)
- hsa-mir-6736-3p (MIRT661260)
- hsa-mir-6890-3p (MIRT661261)
- hsa-mir-7151-3p (MIRT683365)
- hsa-mir-5095 (MIRT683366)
- hsa-mir-6504-3p (MIRT683367)
- hsa-mir-3943 (MIRT683368)
- hsa-mir-4438 (MIRT683369)
miRNA Products
- Search ViGene Biosciences for FANCA
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FANCA
- Browse OriGene Inhibitory RNA Products For FANCA
-
ViGene Biosciences ready-to-package AAV shRNAs for FANCA gene
Clone Products
- Sino Biological Human cDNA Clone for FANCA
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
Horizon Cell Lines for FANCA
-
ViGene Biosciences adenoviral particle packaged cDNA for FANCA gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FANCA gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FANCA gene
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,TAS | 11726552 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | TAS,IEA | -- |
| GO:0043240 | Fanconi anaemia nuclear complex | IDA | 20347428 |
Pathways & Interactions for FANCA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fanconi anemia pathway | ||
| 2 | BRCA1 Pathway | ||
| 3 | DNA Damage | ||
| 4 | Chks in Checkpoint Regulation | ||
| 5 | DNA Double-Strand Break Repair |
.53
|
|
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
3 Qiagen pathways for FANCA Gene
Interacting Proteins for FANCA Gene
Selected Interacting proteins:
ENSP00000373952
O15360-FANCA_HUMAN
for FANCA Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006281 | DNA repair | 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 | -- |
Transcripts for FANCA Gene
mRNA/cDNA for FANCA Gene
- (11) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (98) Selected AceView cDNA sequences:
- (32) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FANCA Gene
CRISPR Products
-
OriGene CRISPR knockouts for FANCA
-
Santa Cruz Biotechnology (SCBT) CRISPR for FANCA
- GenScript: Design CRISPR guide RNA sequences for FANCA
miRNA Products
- Search ViGene Biosciences for FANCA
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FANCA
- Browse OriGene Inhibitory RNA Products For FANCA
-
ViGene Biosciences ready-to-package AAV shRNAs for FANCA gene
Clone Products
- Sino Biological Human cDNA Clone for FANCA
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| 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: |
Expression for FANCA Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for FANCA Gene
This gene is overexpressed in Testis (x7.9).
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
NURSA nuclear receptor signaling pathways regulating expression of FANCA Gene:
FANCASOURCE GeneReport for Unigene cluster for FANCA Gene:
Hs.744083Evidence on tissue expression from TISSUES for FANCA Gene
- Blood(4.3)
- Bone marrow(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCA Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- neck
- nose
- outer ear
- pituitary gland
- skull
Thorax:
- breast
- esophagus
- heart
- lung
- rib
- rib cage
Abdomen:
- intestine
- kidney
- large intestine
- liver
- stomach
Pelvis:
- anus
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- ureter
- uterus
- vagina
- vulva
Limb:
- arm
- digit
- finger
- forearm
- hand
- radius
- upper limb
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for FANCA
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FANCA 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FANCA 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fanca 34 |
|
||
| cow (Bos Taurus) |
Mammalia | FANCA 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fanca 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | FANCA 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FANCA 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FANCA 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fanca 34 |
|
||
| Str.2946 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | fanca 34 |
|
||
| FANCA 35 |
|
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)
Paralogs for FANCA Gene
(66) SIMAP similar genes for FANCA Gene using alignment to 28 proteins:
- FANCA_HUMAN
- A0PJU8_HUMAN
- F5H8D5_HUMAN
- H3BM41_HUMAN
- H3BNS0_HUMAN
- H3BQU1_HUMAN
- H3BQU6_HUMAN
- H3BQW7_HUMAN
- H3BQX1_HUMAN
- H3BRX3_HUMAN
- H3BS03_HUMAN
- H3BS84_HUMAN
- H3BSA3_HUMAN
- H3BSI9_HUMAN
- H3BSL6_HUMAN
- H3BSR5_HUMAN
- H3BT32_HUMAN
- H3BT40_HUMAN
- H3BT53_HUMAN
- H3BUI1_HUMAN
- H3BV66_HUMAN
- L8E9D3_HUMAN
- Q0VAP3_HUMAN
- Q0VAP4_HUMAN
- Q86U55_HUMAN
- Q9Y4Z8_HUMAN
- Q9Y4Z9_HUMAN
- Q9Y500_HUMAN
- ZNF23
- ZNF568
- RBM27
- POU4F3
- NSRP1
- COX7A2
- ZNF415
- WDR6
- TGFBR3
- C19orf25
- NLN
- SCLT1
- SCIMP
- IFT122
- DYNLT3
- CCPG1
- ZNF738
- UTY
- KLHDC1
- GRIK2
- FLJ00047
- ZSCAN30
- ZNF83
- TUBA1C
- ZNHIT3
- THADA
- SENP7
- NSD1
- MRPL45
- LAMA5
- KCTD7
- GNPTAB
- ECD
- DAW1
- C19orf47
- ATL2
- CNOT2
- TMEM67
- NDC80
- PFKFB3
- ZCWPW2
- TPTE2P1
- SPSB4
- PSD3
- NDUFS7
- MKRN1
- LRTOMT
- HGSNAT
- IPO7
- EEF1E1
- ABI2
- MST132
- LRRC36
- C15orf40
- ZNF180
- GALK2
- SERF1B
- DPP9
- C14orf23
- FAM221A
- CLEC2D
- DYNC2LI1
- IRF2
- VPS33A
- RHOA
- SEC14L3
No data available for Paralogs for FANCA Gene
Variants 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 | Pathogenic, Fanconi anemia, complementation group A (FANCA) [MIM:227650] | 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 | Likely benign, Fanconi anemia, complementation group A (FANCA) [MIM:227650] | 89,803,296(-) | CTCAG(A/G)TCTGA | nc-transcript-variant, reference, missense, utr-variant-5-prime | |
| rs17227396 | untested, Fanconi anemia, complementation group A (FANCA) [MIM:227650] | 89,739,264(-) | AAGAC(A/G)CGGCC | nc-transcript-variant, reference, missense, utr-variant-3-prime |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCA Gene
Disorders for FANCA Gene
(11) 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 |
|
|
| fanca-related fanconi anemia |
|
|
| maternal uniparental disomy of chromosome 16 |
|
|
| fanconi anemia, complementation group e |
|
|
| congenital hypoplastic anemia |
|
|
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
Publications for FANCA Gene
- Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S. … Benhamou S. (Carcinogenesis 2009) 3 22 46 64
- 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
- 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
- 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
- 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
- R&D Systems Antibodies for FANCA (FACA/FANCA)
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- Custom Antibody ServicesOriGene Antibodies for FANCA
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- Sino Biological Human cDNA Clone for FANCA
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- antibodies-online Antibodies for FANCA: See all 106
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- GeneTex FANCA antibody for FANCA
- Search GeneTex for Proteins for FANCA
- ViGene Biosciences adenoviral particle packaged cDNA for FANCA gene
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- Horizon Cell Lines for FANCA
- Cyagen custom Knockout/knockin (KOKI) mouse models for FANCA
- VectorBuilder custom plasmid, inducible vectors for FANCA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FANCA
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FANCA Gene
- (1) GeneCards
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- (4) Swiss-Prot
- (5) Ensembl
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- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
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- (60) miRBase
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- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
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