1. Gene
  2. FANCB - FA complementation group B Gene

FANCB - FA complementation group B Gene

Homo sapiens

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

Gene ID: 2187 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
17396147 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
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 Reference
Intra
FANCB Q8NB91 FAAP100 Homo sapiens Q0VG06
Anti Bait CoIP
17396147
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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