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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 instab... See more...
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
- GC16M089740
- GC16M089741
- GC16M089744
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 (FA Complementation Group A) is a Protein Coding gene. Diseases associated with FANCA include Fanconi Anemia, Complementation Group A and Neuroblastoma 1. Among its related pathways are BRCA1 Pathway and Chks in Checkpoint Regulation.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for FANCA Gene
- HGNC(3582)
- Entrez Gene(2175)
- Ensembl(ENSG00000187741)
- OMIM(607139)
- UniProtKB(O15360)
- Open Targets Platform(ENSG00000187741)
- Monarch Initiative
- Search for FANCA at DataMed
- Search for FANCA at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FANCA Gene
Genomics for FANCA Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FANCA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FANCA on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FANCA
- Top Transcription factor binding sites by QIAGEN in the FANCA gene promoter:
-
- AP-2gamma
- COMP1
- Elk-1
- GATA-3
- LCR-F1
- Olf-1
- POU2F1
- POU2F1a
Genomic Locations for FANCA Gene
Genomic Locations for FANCA Gene
- chr16:89,737,549-89,816,657
- (GRCh38/hg38)
- Size:
- 79,109 bases
- Orientation:
- Minus strand
- chr16:89,803,957-89,883,065
- (GRCh37/hg19)
- Size:
- 79,109 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 HGNC
- 16q24.3 by Entrez Gene
- 16q24.3 by Ensembl
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, Lys515, Lys612, Lys1199, Lys1387, Lys1398, and Lys1413
- NX_O15360 (NX_O15360-1)
- Modification sites at PhosphoSitePlus
Other Protein References for FANCA Gene
- ENSEMBL proteins:
-
- ENSP00000373952
- ENSP00000456829
- ENSP00000456608
- ENSP00000457006
- ENSP00000454977
- ENSP00000456481
- ENSP00000455974
- ENSP00000454217
- ENSP00000456588
- ENSP00000456993
- ENSP00000457970
- ENSP00000457027
- ENSP00000455969
- ENSP00000456762
- ENSP00000457647
- ENSP00000373953
- ENSP00000456443
- ENSP00000443409
- ENSP00000456722
- ENSP00000455946
- ENSP00000455941
- ENSP00000443675
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences FANCA Antibody (LS-B70) and FANCA Antibody (LS-B12475)
- G Biosciences Immunotag™ Phospho-FANCA (Ser1149) Antibody
- GeneTex Anti-FANCA antibody [N1], N-term
-
Custom Antibody ServicesOriGene Antibodies for FANCA
- Novus Biologicals Antibodies for FANCA
-
Abcam antibodies for FANCA
- Invitrogen Antibodies for FANCA (AFLGC-FANCA)
-
Boster Bio Antibodies 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: Show 4 available FANCA Proteins ranked by validation data
- Compare Top FANCA Proteins
-
Quality Products:
-
Abcam proteins for FANCA
Assay Products
- antibodies-online: Show 4 available FANCA Elisa Kits ranked by validation data
- Compare Top FANCA Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for FANCA Gene
Domains & Families for FANCA Gene
Gene Families for FANCA Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for FANCA Gene
- InterPro:
- Blocks:
-
- Fanconi anaemia group A protein signature
- ProtoNet:
Suggested Antigen Peptide Sequences for FANCA Gene
- GenScript: Design optimal peptide antigens:
-
- Fanconi anemia, complementation group A (A0PJU8_HUMAN)
- cDNA FLJ52775, highly similar to Fanconi anemia group A protein (B7Z6Y4_HUMAN)
- Fanconi anemia group A protein (FANCA_HUMAN)
- FANCA protein (Q0VAP3_HUMAN)
- Fanconi anemia, complementation group A (Q86U55_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FANCA Gene
Function for FANCA Gene
Molecular function for FANCA Gene
- 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.
- 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
Phenotypes From GWAS Catalog for FANCA Gene
| 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
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- neoplasm
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- skeleton phenotype
- hematopoietic system phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for FANCA:
-
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased viability ratio
- Synthetic lethal with Ras
- Increased gamma-H2AX phosphorylation
- Decreased shRNA abundance
- Decreased homologous recombination repair frequency
- Decreased ionizing radiation sensitivity
- Increased caspase activity
Animal Models for FANCA Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FANCA - Select products 50% OFF >
- * FANCA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FANCA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FANCA
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FANCA
- Browse OriGene Inhibitory RNA Products For FANCA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCA
Clone Products
- Applied Biological Materials (abm): Clones for FANCA - Select products 50% OFF >
- * FANCA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for FANCA
- Addgene plasmids for FANCA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FANCA
Cell Line Products
-
Horizon Cell Lines for FANCA
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 | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS,IDA | 11726552 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | TAS,IEA | -- |
| GO:0043240 | Fanconi anaemia nuclear complex | IEA,IDA | 20347428 |
Pathways & Interactions for FANCA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fanconi anemia pathway | ||
| 2 | BRCA1 Pathway |
Fanconi's Anaemia Pathway
.01
|
BRCA1 Pathway
-
|
| 3 | DNA Damage | ||
| 4 | Chks in Checkpoint Regulation |
DNA Repair Mechanisms
.31
|
|
| 5 | DNA Double-Strand Break Repair |
.53
|
|
Pathways by source 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
- BRCA1 Pathway
- DNA Repair Mechanisms
- Fanconi's Anaemia Pathway
1 Cell Signaling Technology pathway for FANCA Gene
Interacting Proteins for FANCA Gene
Selected Interacting proteins:
O15360-FANCA_HUMAN
ENSP00000373952
for FANCA Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for FANCA
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006281 | DNA repair | TAS | -- |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
| GO:0007140 | male meiotic nuclear division | IEA | -- |
| GO:0008584 | male gonad development | IEA | -- |
| GO:0008585 | female gonad development | IEA | -- |
Drugs & Compounds for FANCA Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for FANCA Gene
mRNA/cDNA for FANCA Gene
- 4 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 32 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000305699 1430 nts (view in UCSC)
- ENST00000389301 5452 nts (view in UCSC)
- ENST00000389302 1641 nts (view in UCSC)
- ENST00000534992 1088 nts (view in UCSC)
- ENST00000543736 1000 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FANCA - Select products 50% OFF >
- * FANCA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FANCA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FANCA
-
Santa Cruz Biotechnology (SCBT) CRISPR for FANCA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FANCA
- Browse OriGene Inhibitory RNA Products For FANCA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCA
Clone Products
- Applied Biological Materials (abm): Clones for FANCA - Select products 50% OFF >
- * FANCA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for FANCA
- Addgene plasmids for FANCA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FANCA
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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
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, MaxQB, and MOPED for FANCA Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FANCA
SOURCE GeneReport for Unigene cluster for FANCA Gene:
Hs.744083Evidence on tissue expression from TISSUES for FANCA Gene
- Blood(4.4)
- Bone marrow(2.8)
- Intestine(2.6)
- Skin(2.5)
- Nervous system(2.5)
- Lymph node(2.2)
- Adrenal gland(2.1)
- Lung(2.1)
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
Regions:
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
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FANCA 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FANCA 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fanca 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Fanca 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FANCA 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | FANCA 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FANCA 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FANCA 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fanca 30 |
|
||
| Str.2946 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | fanca 30 |
|
||
| FANCA 31 |
|
OneToOne |
- Species where no ortholog for FANCA was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for FANCA: view image
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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FANCA Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 623181 | Pathogenic: Fanconi anemia, complementation group A | 89,767,205(-) | CAGAG/C | FRAMESHIFT_VARIANT | |
| 632554 | Pathogenic: Fanconi anemia | 89,744,957(-) | ACTCGCTGGCAAACTG | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
| 635518 | Pathogenic: Fanconi anemia; Fanconi anemia, complementation group A | 89,764,889(-) | C/T | SPLICE_DONOR_VARIANT | |
| 638958 | Uncertain Significance: Fanconi anemia | 89,814,603(-) | G/T | MISSENSE_VARIANT | |
| 639631 | Uncertain Significance: Fanconi anemia | 89,758,609(-) | A/C | MISSENSE_VARIANT |
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)
Additional Variant Information for FANCA Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCA Gene
Disorders for FANCA Gene
(35) MalaCards diseases for FANCA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fanconi anemia, complementation group a |
|
|
| neuroblastoma 1 |
|
|
| neuroblastoma |
|
|
| fanconi anemia, complementation group b |
|
|
| maternal uniparental disomy of chromosome 16 |
|
|
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
Additional Disease Information for FANCA
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for FANCA Gene
- Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer. (PMID: 19012493) Wang SS … Hildesheim A (The Journal of infectious diseases 2009) 3 23 41
- Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 23 41
- 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 23 41
- The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR). (PMID: 15299030) Zhang X … Pang Q (The Journal of biological chemistry 2004) 3 4 23
- Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. (PMID: 10807541) Yamada T … Sasaki MS (Journal of human genetics 2000) 3 4 23
ExternalLinks
Products for FANCA Gene
- Custom Antibody ServicesOriGene Antibodies for FANCA
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for FANCA
- Search Origene for MassSpec and Protein Over-expression Lysates for FANCA
- Origene Custom Protein Services for FANCA
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FANCA
- Browse OriGene Inhibitory RNA Products For FANCA
- OriGene qPCR primer pairs for FANCA
- OriGene CRISPR knockouts for FANCA
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For FANCA
- Sino Biological Human cDNA Clone for FANCA
- Sino Biological Cell Lysates for FANCA
- Sino Biological Recombinant Proteins for FANCA
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for FANCA
- Novus Biologicals proteins and lysates for FANCA
- Browse Antibodies
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- Abcam antibodies for FANCA
- Abcam proteins for FANCA
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- Browse Primary Antibodies
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- Invitrogen Antibodies for FANCA (AFLGC-FANCA)
- VectorBuilder Custom and pre-made DNA vectors for FANCA (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for FANCA (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for FANCA (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for FANCA CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for FANCA
- Addgene plasmids for FANCA
- antibodies-online: Show 33 available FANCA Antibodies ranked by validation data
- Compare Top FANCA Antibodies
- antibodies-online: Show 4 available FANCA Elisa Kits ranked by validation data
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- Quality Products:
- antibodies-online: Show 4 available FANCA Proteins ranked by validation data
- Compare Top FANCA Proteins
- Quality Products:
- Horizon Cell Lines for FANCA
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FANCA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FANCA
- Search GeneCopoeia for miRNA 3'UTR Target clone products for FANCA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCA
- Boster Bio Antibodies for FANCA
- Browse Boster Bio ELISA Kits
Sources for FANCA Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB