FANCB - FA complementation group B Gene

Also Known as FA2; FAB; FACB; FAAP90; FAAP95

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2187

About FANCB

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:14,689,524-14,873,069 (from NCBI)

This gene has 18 transcripts (splice variants), 185 orthologues and is associated with 6 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]

FANCB Products (4)

mRNA	Protein	Name
NM_001018113.3	NP_001018123.1	Fanconi anemia group B protein isoform 1
NM_001324162.2	NP_001311091.1	Fanconi anemia group B protein isoform 1
NM_001410764.1	NP_001397693.1	Fanconi anemia group B protein isoform 2
NM_152633.4	NP_689846.1	Fanconi anemia group B protein isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17396147	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

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

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

FANCB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FANCB	Q8NB91	FAAP100	Homo sapiens	Q0VG06	Anti Bait CoIP	17396147

Cross: Cross-species interaction Intra: Intraspecies interaction

FANCB Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83059	FANCB Antibody (YA2804)	WB	Human, Mouse
HY-P83059A	FANCB Antibody (YA2804)(PBS only)	WB	Human, Mouse

Related Diseases

Diseases	Alias
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 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
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	MRXSP Intellectual Developmental Disorder, X-Linked Syndromic, Pilorge Type
Vacterl With Hydrocephalus	Sujansky-Leonard Syndrome
Vacterl Association, X-Linked, With Or Without Hydrocephalus	VACTERLX X-Linked Vacterl Association Vacterl-H, X-Linked Vacterl Association, X-Linked Vacterl Association, X-Linked With Or Without Hydrocephalus Vacterl Association X-Linked With Or Without Hydrocephalus Vacterl Syndrome Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies X-Linked Vacterl-H Vacterl Association Vacterl Association With Hydrocephalus
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Fanconi Anemia, Complementation Group T	Fanconi Anemia Complementation Group T FANCT
Ankylosing Spondylitis 3
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 U	Fanconi Anemia Complementation Group U FANCU
Spastic Paraplegia 27, Autosomal Recessive	SPG27 Hereditary Spastic Paraplegia 27 Autosomal Recessive Spastic Paraplegia Type 27 Autosomal Recessive Spastic Paraplegia 27 Spastic Paraplegia-27, Autosomal Recessive
Fanconi Anemia, Complementation Group V	Fanconi Anemia Complementation Group V FANCV
Fanconi Anemia, Complementation Group O	Fanconi Anemia Complementation Group O FANCO
Vacterl Association	Vater Association Vater Syndrome
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
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
Microphthalmia, Syndromic 3	MCOPS3 Aeg Syndrome Microphthalmia And Esophageal Atresia Syndrome Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-Esophageal-Genital Syndrome Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System Syndromic Microphthalmia 3 Sox2 Anophthalmia Syndrome Anophthalmia Clinical With Associated Anomalies Anophthalmia Esophageal Genital Syndrome Anophthalmia Microphthalmia Esophageal Atresia Syndromic Microphthalmia Type 3 Sox2-Related Eye Disorders Anophthalmia, Clinical, With Associated Anomalies Syndromic Microphthalmia, Type 3 Microphthalmia, Syndromic, 3 Anophthalmia/Microphthalmia-Esophageal Atresia Microphthalmia Syndromic, Type 3
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
Physical Disorder	Physical Illness
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
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
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
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
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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04733	FANCB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FANCB	VGNC	VGNC:62140
Canis familiaris	FANCB	VGNC	VGNC:40717
Rattus norvegicus	FANCB	RGD	RGD:1561555
Bos taurus	FANCB	VGNC	VGNC:28853
Mus musculus	FANCB	MGD	MGI:2448558
Macaca mulatta	FANCB	VGNC	VGNC:72608
Others	FANCB	NCBI