FANCD2 - FA complementation group D2 Gene

Also Known as FA4; FAD; FACD; FAD2; FA-D2; FANCD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2177

About FANCD2

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:10,026,437-10,101,932 (from NCBI)

This gene has 18 transcripts (splice variants), 194 orthologues and is associated with 101 phenotypes. Broad expression in testis (RPKM 7.7), bone marrow (RPKM 6.2) and 20 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 D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with Other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

FANCD2 Products (6)

mRNA	Protein	Name
NM_001018115.3	NP_001018125.1	Fanconi anemia group D2 protein isoform b
NM_001319984.2	NP_001306913.1	Fanconi anemia group D2 protein isoform b
NM_001374253.1	NP_001361182.1	Fanconi anemia group D2 protein isoform c
NM_001374254.1	NP_001361183.1	Fanconi anemia group D2 protein isoform d
NM_001374255.1	NP_001361184.1	Fanconi anemia group D2 protein isoform e
NM_033084.6	NP_149075.2	Fanconi anemia group D2 protein isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables DNA polymerase binding	IPI IPI: Inferred from physical interaction	19995904	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12874027	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in response to gamma radiation	IDA IDA: Inferred from direct assay	12874027	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
part of DNA repair complex	IPI IPI: Inferred from physical interaction	32269332	GOA
located in nucleus	IDA IDA: Inferred from direct assay	26323318	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

FANCD2 Protein Structure

FancD2

0
300
600
900
1200
1451 a.a.

Protein Preferred Names	Protein Names
Fanconi anemia group D2 protein	Fanconi anemia complementation group D2

FANCD2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	FANCD2	Q9BXW9	FANCI	Homo sapiens	Q9NVI1	GMS	20603015
Intra	FANCD2	Q9BXW9	FSCN1	Homo sapiens	Q16658	GMS	20603015
Intra	FANCD2	Q9BXW9	MRE11	Homo sapiens	P49959	Anti Bait CoIP	19609304
Intra	FANCD2	Q9BXW9	MRE11	Homo sapiens	P49959	Ion Exchange Chrom	19609304
Intra	FANCD2	Q9BXW9	MRE11	Homo sapiens	P49959	Pull Down	19609304
Intra	FANCD2	Q9BXW9	MRE11	Homo sapiens	P49959	GMS	19609304
Intra	FANCD2	Q9BXW9	NBN	Homo sapiens	O60934	Anti Bait CoIP	19609304
Intra	FANCD2	Q9BXW9	NBN	Homo sapiens	O60934	Pull Down	19609304
Intra	FANCD2	Q9BXW9	NBN	Homo sapiens	O60934	Ion Exchange Chrom	19609304
Intra	FANCD2	Q9BXW9	NBN	Homo sapiens	O60934	GMS	19609304
Intra	FANCD2	Q9BXW9	MEN1	Homo sapiens	O00255	Anti Tag CoIP	12874027
Intra	FANCD2	Q9BXW9	CEBPD	Homo sapiens	P49716	Anti Bait CoIP	20805509
Intra	FANCD2	Q9BXW9	BRCA2	Homo sapiens	P51587	Anti Bait CoIP	18212739
Intra	FANCD2	Q9BXW9	BRCA2	Homo sapiens	P51587	CoIP	15115758

Cross: Cross-species interaction Intra: Intraspecies interaction

FANCD2 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P83357	FANCD2 Antibody (YA3102)	WB, IHC-P, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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 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
Erythrocytosis, Familial, 2	Chuvash Polycythemia ECYT2 Familial Erythrocytosis 2 Autosomal Recessive Benign Erythrocytosis Polycythemia, Vhl-Dependent Chuvash Erythromatosis Chuvash Type Polycythemia Chuvash Erythrocytosis Von Hippel-Lindau-Dependent Polycythemia Polycythemia Chuvash Type Vhl-Dependent Polycythemia Erythrocytosis, Familial, Type 2
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Disease Vhl Vhl Syndrome VHLS Von Hippel-Lindau Syndrome, Modifier Of Hippel Lindau Syndrome Angiomatosis Retinae Cerebelloretinal Angiomatosis, Familial Hippel-Lindau Disease Familial Cerebelloretinal Angiomatosis Lindau Disease VHLD
Fanconi Anemia, Complementation Group F	Fanconi Anemia Complementation Group F FANCF
Fanconi Anemia, Complementation Group E	Fanconi Anemia Complementation Group E FANCE Face Faces Syndrome
Fanconi Anemia, Complementation Group B	Fanconi Anemia Complementation Group B FANCB Facb Fa2 Fanconi Pancytopenia Type 2 Fanconi Pancytopenia, Type 2
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 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
Nijmegen Breakage Syndrome	Berlin Breakage Syndrome NBS Microcephaly, Normal Intelligence And Immunodeficiency Ataxia-Telangiectasia Variant Ataxia-Telangiectasia Variant V1 Seemanova Syndrome Ii Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome Seemanova Syndrome Type 2 At-V1 Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence Immunodeficiency, Microcephaly, And Chromosomal Instability Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome Microcephaly Immunodeficiency Lymphoreticuloma Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence Seemanova Syndrome 2 Ataxia-Telangiectasia Variant 1 Seemanova Syndrome At V1 Ataxia-Telangiectasia, Variant 1 Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome V-At Ataxia Telangiectasia Variant V1
Physical Disorder	Physical Illness
Interstitial Nephritis, Karyomegalic	Karyomegalic Interstitial Nephritis KMIN Kin Systemic Karyomegaly Karyomegalic Tubulointerstitial Nephritis Ktn
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Fanconi Anemia, Complementation Group T	Fanconi Anemia Complementation Group T FANCT
Fanconi Anemia, Complementation Group G	Fanconi Anemia Complementation Group G FANCG
Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Dominant Autosomal Dominant Cutis Laxa ADCL1 Adcl Autosomal Dominant Cutis Laxa 1 Cutis Laxa, Autosomal Dominant, 1 Cutis Laxa, Autosomal Dominant, Type 1
Orbit Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma Of The Orbit
Fanconi Anemia, Complementation Group J	Fanconi Anemia Complementation Group J FANCJ
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
Xeroderma Pigmentosum, Complementation Group F	Xeroderma Pigmentosum, Group F Xeroderma Pigmentosum Vi Xp6 Xeroderma Pigmentosum, Type F/Cockayne Syndrome XPF Xp, Group F Xeroderma Pigmentosum Group F Xp Group F Xeroderma Pigmentosum, Type 6 Xeroderma Pigmentosum Complementation Group F XP-F Xeroderma Pigmentosum Type F/Cockayne Syndrome XPF/CS
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
Aneurysm, Intracranial Berry, 12	ANIB12 Intracranial Berry Aneurysm 12
Sporadic Breast Cancer	Sporadic Breast Carcinoma
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
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
Orbit Rhabdomyosarcoma	Rhabdomyosarcoma Of The Orbit Rhabdomyosarcoma Of Orbit
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Chronic Fatigue Syndrome	Myalgic Encephalomyelitis Postviral Fatigue Syndrome Cfs Myalgic Encephalitis Encephalomyelitis, Myalgic Chronic Fatigue Fatigue Syndrome, Chronic Benign Myalgic Encephalomyelitis Akureyri Akureyri Disease Cfs - [Chronic Fatigue Syndrome] Epidemic Neuromyasthenia Myalgic Encephalomyelitis Syndrome Me - [Myalgic Encephalomyelitis] Pvfs - [Postviral Fatigue Syndrome] Neuromyasthenia Iceland Disease Icelandic Disease
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
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
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
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
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

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Phase
HY-160700	TNG348	Inhibitor	99.74%	Phase 2

Pre-clinical Phase

Bioactive Molecules (10)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-14520	Tetrahydrofolic acid		96.77%	Unkown
HY-123834	FEN1-IN-1		99.85%	Unkown
HY-126539	UBE2T/FANCL-IN-1		99.36%	Unkown
HY-153365	I-138	Inhibitor	99.75%	Unkown
HY-14520A	(6S)-Tetrahydrofolic acid		/	Unkown
HY-RS04735	FANCD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-139621	Colibactin 742		/	Unkown
HY-14520B	Tetrahydrofolic acid trihydrochloride		/	Unkown
HY-RS17257	Fancd2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23711	Fancd2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FANCD2	MGD	MGI:2448480
Bos taurus	FANCD2	VGNC	VGNC:28855
Rattus norvegicus	FANCD2	RGD	RGD:1303172
Canis familiaris	FANCD2	VGNC	VGNC:40719
Felis catus	FANCD2	VGNC	VGNC:62142
Others	FANCD2	NCBI