1. Gene
  2. FANCA - FA complementation group A Gene

FANCA - FA complementation group A Gene

Homo sapiens

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

Gene ID: 2175 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
10627486 GOA
Cellular Component GO Annotation Evidence Reference 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

Fanconi_A: Fanconi anaemia group A protein (1253 - 1316)

  • 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 Reference
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) ≥95%

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

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