FANCA - FA complementation group A Gene

Also Known as FA; FA1; FAA; FAH; FA-H; FACA; FANCH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2175

About FANCA

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,737,549-89,816,647 (from NCBI)

This gene has 45 transcripts (splice variants), 172 orthologues and is associated with 106 phenotypes. Broad expression in lymph node (RPKM 7.2), bone marrow (RPKM 6.7) and 25 other tissues.

Summary

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]

FANCA Products (4)

mRNA	Protein	Name
NM_000135.4	NP_000126.2	Fanconi anemia group A protein isoform a
NM_001018112.3	NP_001018122.1	Fanconi anemia group A protein isoform b
NM_001286167.3	NP_001273096.1	Fanconi anemia group A protein isoform c
NM_001351830.2	NP_001338759.1	Fanconi anemia group A protein isoform d

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10627486	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Fanconi anaemia nuclear complex	IDA IDA: Inferred from direct assay	20347428	GOA
located in chromatin	IDA IDA: Inferred from direct assay	22343915	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11726552	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FANCA Protein Structure

Fanconi_A

0
300
600
900
1200
1455 a.a.

Protein Preferred Names	Protein Names
Fanconi anemia group A protein	Fanconi anemia complementation group A

FANCA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FANCA	O15360	FAAP100	Homo sapiens	Q0VG06	GMS	17396147
Intra	FANCA	O15360	FAAP100	Homo sapiens	Q0VG06	Anti Tag CoIP	35271311
Intra	FANCA	O15360	FAAP100	Homo sapiens	Q0VG06	Anti Bait CoIP	17396147
Intra	FANCA	O15360	FANCF	Homo sapiens	Q9NPI8	CoIP	11063725
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	Anti Bait CoIP	17289582
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	Y2H	11157805
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	Y2H Pooling	16189514
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	Y2H	10627486
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	BRET	37398436
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	Y2H	10652215
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	Anti Tag CoIP	10468606
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	Y3H	12649160
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	Lumier	37398436
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	CoIP	10373536
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	Lumier	32814053
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	Anti Bait CoIP	17396147
Intra	FANCA	O15360	FANCG	Homo sapiens	O15287	GMS	17396147

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FANCA Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76915	FACA/FANCA Protein, Human (sf9, His)	AAH08979.1 (M1-C297)	≥ 75%, as determined by reducing SDS-PAGE.

FANCA Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82367	FANCA Antibody (YA2112)	WB, IP	Human

Related Diseases

Diseases	Alias
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Pituitary Stalk Interruption Syndrome	Ectopic Neurohypophysis Psis
Fanconi Anemia, Complementation Group L	Fanconi Anemia Complementation Group L FANCL
Hepatoblastoma
Fanconi Anemia, Complementation Group F	Fanconi Anemia Complementation Group F FANCF
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Fanconi Anemia, Complementation Group E	Fanconi Anemia Complementation Group E FANCE Face Faces Syndrome
Fanconi Anemia, Complementation Group D1	Fanconi Anemia Complementation Group D1 FANCD1 Fad1 Inherited Cancer-Predisposing Syndrome Due To Biallelic Brca2 Mutations
Fanconi Anemia, Complementation Group B	Fanconi Anemia Complementation Group B FANCB Facb Fa2 Fanconi Pancytopenia Type 2 Fanconi Pancytopenia, Type 2
Bloom Syndrome	BLM Bs Bls Bloom-Torre-Machacek Syndrome Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1 Mgrisce1 Congenital Telangiectatic Erythema Congenital Telangiectatic Erythema Syndrome Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability Bloom'S Syndrome Bsyn
Pancytopenia
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Fanconi Anemia, Complementation Group T	Fanconi Anemia Complementation Group T FANCT
Gastric Body Carcinoma	Cancer Of Body Of Stomach Carcinoma Of Body Of Stomach
Esophageal Atresia	Tracheoesophageal Fistula Congenital Atresia Of Esophagus Congenital Imperforate Esophagus Imperforate Esophagus Oesophageal Atresia Te Fistula Tef Tracheoesophageal Fistula With Or Without Esophageal Atresia
Amed Syndrome, Digenic	Amed Syndrome AMEDS Bone Marrow Failure Syndrome 7, Digenic Bmfs7 Aplastic Anemia-Intellectual Disability-Dwarfism Syndrome
Physical Disorder	Physical Illness
Fanconi Anemia, Complementation Group U	Fanconi Anemia Complementation Group U FANCU
Fanconi Anemia, Complementation Group I	Fanconi Anemia Complementation Group I FANCI
Ataxia-Telangiectasia	Ataxia Telangiectasia Louis-Bar Syndrome AT At1 Ataxia-Telangiectasia Syndrome Ataxia - Telangiectasia Variant Boder-Sedgwick Syndrome Louis Bar Syndrome Cerebello-Oculocutaneous Telangiectasia Immunodeficiency With Ataxia Telangiectasia A-T Ataxia Telangiectasia Syndrome Atm Telangiectasia, Cerebello-Oculocutaneous Ataxia-Telangiectasia Variant
Papillary Adenofibroma
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Fanconi-Like Syndrome	Fanconi Like Syndrome
Squamous Cell Carcinoma, Head And Neck	Squamous Cell Carcinoma Of The Head And Neck HNSCC Head And Neck Squamous Cell Carcinoma Squamous Cell Carcinoma Of Lip Squamous Cell Carcinoma, Head And Neck, Somatic Carcinoma Of The Head And Neck Squamous Cell Carcinomas Of Head And Neck Scchn Squamous Cell Carcinoma Of The Hypopharynx Squamous Cell Carcinoma Of The Oropharynx Squamous Cell Carcinoma Of Salivary Glands Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses Squamous Cell Carcinoma Of The Oral Cavity Squamous Cell Carcinoma Of The Lip Carcinoma, Squamous Cell Of Head And Neck Lip Squamous Cell Carcinoma Carcinoma, Squamous Cell, Head And Neck Salivary Gland Squamous Cell Carcinoma Cancer Of Head And Neck Squamous Cell Carcinoma Of Oropharynx Nos
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group D2	Fanconi Anemia Complementation Group D2 FANCD2 Fad2 Fa4 Fancd Fanconi Pancytopenia Type 4 Fanconi Anemia, Complementation Group D Fanconi Pancytopenia, Type 4 Facd Fanconi Anemia Complementation Group D
Fanconi Anemia, Complementation Group C	Fanconi Anemia Complementation Group C FANCC Facc Fac Fa3 Fanconi Pancytopenia Type 3 Fanconi Pancytopenia, Type 3 Faces Syndrome Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies Friedman-Goodman Syndrome Abnormality Of The Face
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04732	FANCA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19192	Fanca Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25680	Fanca Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FANCA	VGNC	VGNC:62139
Rattus norvegicus	FANCA	RGD	RGD:1311380
Bos taurus	FANCA	VGNC	VGNC:28852
Macaca mulatta	FANCA	VGNC	VGNC:99508
Mus musculus	FANCA	MGD	MGI:1341823
Canis familiaris	FANCA	VGNC	VGNC:40716
Others	FANCA	NCBI