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FANCB FA complementation group B [ Homo sapiens (human) ]

Gene ID: 2187, updated on 2-Nov-2024

Summary

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Official Symbol
FANCBprovided by HGNC
Official Full Name
FA complementation group Bprovided by HGNC
Primary source
HGNC:HGNC:3583
See related
Ensembl:ENSG00000181544 MIM:300515; AllianceGenome:HGNC:3583
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FA2; FAB; FACB; FAAP90; FAAP95
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See FANCB in Genome Data Viewer
Location:
Xp22.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (14689524..14873069, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (14266304..14453760, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (14813750..14891191, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 E4 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:14369907-14370598 Neighboring gene glycine receptor alpha 2 Neighboring gene uncharacterized LOC107985686 Neighboring gene NANOG hESC enhancer GRCh37_chrX:14584711-14585313 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:14691306-14692505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20671 Neighboring gene nucleophosmin 1 pseudogene 9 Neighboring gene motile sperm domain containing 2 Neighboring gene TPT1 pseudogene 14

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Bony metastases from breast cancer - a study of foetal antigen 2 as a blood tumour marker. Cheung KL, et al. World J Surg Oncol, 2010 May 13. PMID 20465790, Free PMC Article
  2. X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. McCauley J, et al. Am J Med Genet A, 2011 Oct. PMID 21910217
  3. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. Holden ST, et al. J Med Genet, 2006 Sep. PMID 16679491, Free PMC Article
  4. Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype. Asur RS, et al. Mol Genet Genomic Med, 2018 Jan. PMID 29193904, Free PMC Article
  5. X-linked VACTERL-H caused by deletion of exon 3 in FANCB: A case report. Watanabe N, et al. Congenit Anom (Kyoto), 2018 Sep. PMID 29232005

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Association of CDH1, FANCB and APC Gene Polymorphisms with Lung Cancer Susceptibility in Chinese Population].
    Title: [Association of CDH1, FANCB and APC Gene Polymorphisms 
with Lung Cancer Susceptibility in Chinese Population].
  2. We identified a 9154 bp intragenic duplication in FANCB, covering the first coding exon 3 and the flanking regions. The duplicated allele gives rise to an aberrant transcript containing exon 3 duplication, predicted to introduce a stop codon in FANCB protein (p.A319*).
    Title: Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
  3. Four single nucleotide polymorphisms were identified, three of which were located in untranslated regions of Fanconi anemia group B protein (FANCB) and predicted to be associated with normal function.
    Title: Mutational and Functional Analysis of FANCB as a Candidate Gene for Sporadic Head and Neck Squamous Cell Carcinomas.
  4. Loss-of-function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis.
    Title: X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
  5. Inactivation of FancB may play a role in the pathogenesis of sporadic HNSCC.
    Title: Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancers.
  6. Elevated serum FA-2 was associated with bony metastases from breast cancer.
    Title: Bony metastases from breast cancer - a study of foetal antigen 2 as a blood tumour marker.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features.
  8. Our results rule out a major contribution of FANCB to hereditary breast cancer.
    Title: Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
  9. Observational study of genotype prevalence. (HuGE Navigator)
    Title: Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
  10. Mus81 and FANCB have different roles in repair of DNA damage during replication in human cells
    Title: Human Mus81 and FANCB independently contribute to repair of DNA damage during replication.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Fanconi anemia complementation group B
MedGen: C1845292 OMIM: 300514 GeneReviews: Fanconi Anemia
Compare labs
VACTERL association, X-linked, with or without hydrocephalus
MedGen: C2931228 OMIM: 314390 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-06-23)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-06-23)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in interstrand cross-link repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in replication-born double-strand break repair via sister chromatid exchange IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of Fanconi anaemia nuclear complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Fanconi anaemia nuclear complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of Fanconi anaemia nuclear complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
Fanconi anemia group B protein
Names
Fanconi anemia complementation group B
Fanconi anemia-associated polypeptide of 95 kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007310.1 RefSeqGene

    Range
    5001..34656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_496

mRNA and Protein(s)

  1. NM_001018113.3 → NP_001018123.1  Fanconi anemia group B protein isoform 1

    See identical proteins and their annotated locations for NP_001018123.1

    Status: REVIEWED

    Source sequence(s)
    AC140846, AK091383, BP236844
    Consensus CDS
    CCDS14161.1
    UniProtKB/Swiss-Prot
    B2RMZ4, Q7Z2U2, Q86XG1, Q8NB91
    UniProtKB/TrEMBL
    A0A8Q3WL55
    Related
    ENSP00000498215.1, ENST00000650831.1

  2. NM_001324162.2 → NP_001311091.1  Fanconi anemia group B protein isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC140846
    Consensus CDS
    CCDS14161.1
    UniProtKB/Swiss-Prot
    B2RMZ4, Q7Z2U2, Q86XG1, Q8NB91
    UniProtKB/TrEMBL
    A0A8Q3WL55
    Related
    ENSP00000512550.1, ENST00000696312.1

  3. NM_001410764.1 → NP_001397693.1  Fanconi anemia group B protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC095352, AC140846
    Consensus CDS
    CCDS94554.1
    UniProtKB/TrEMBL
    A0A8Q3WL66
    Related
    ENSP00000512574.1, ENST00000696353.1

  4. NM_152633.4 → NP_689846.1  Fanconi anemia group B protein isoform 1

    See identical proteins and their annotated locations for NP_689846.1

    Status: REVIEWED

    Source sequence(s)
    AC140846, AK091383
    Consensus CDS
    CCDS14161.1
    UniProtKB/Swiss-Prot
    B2RMZ4, Q7Z2U2, Q86XG1, Q8NB91
    UniProtKB/TrEMBL
    A0A8Q3WL55
    Related
    ENSP00000326819.3, ENST00000324138.7

RNA

  1. NR_136707.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK091383, BC055411, CA433787

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    14689524..14873069 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441922.1 → XP_047297878.1  Fanconi anemia group B protein isoform X2

    UniProtKB/TrEMBL
    C9J5X9

  2. XM_047441923.1 → XP_047297879.1  Fanconi anemia group B protein isoform X2

    UniProtKB/TrEMBL
    C9J5X9

  3. XM_017029356.2 → XP_016884845.1  Fanconi anemia group B protein isoform X2

    UniProtKB/TrEMBL
    A0A8Q3WL55, C9J5X9
    Related
    ENSP00000397849.2, ENST00000452869.2

  4. XM_047441924.1 → XP_047297880.1  Fanconi anemia group B protein isoform X2

    UniProtKB/TrEMBL
    C9J5X9

  5. XM_047441921.1 → XP_047297877.1  Fanconi anemia group B protein isoform X1

    UniProtKB/Swiss-Prot
    B2RMZ4, Q7Z2U2, Q86XG1, Q8NB91

  6. XM_047441920.1 → XP_047297876.1  Fanconi anemia group B protein isoform X1

    UniProtKB/Swiss-Prot
    B2RMZ4, Q7Z2U2, Q86XG1, Q8NB91

RNA

  1. XR_007068184.1 RNA Sequence

  2. XR_001755674.2 RNA Sequence

  3. XR_001755672.2 RNA Sequence

  4. XR_001755673.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    14266304..14453760 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326693.1 → XP_054182668.1  Fanconi anemia group B protein isoform X2

    UniProtKB/TrEMBL
    C9J5X9

  2. XM_054326694.1 → XP_054182669.1  Fanconi anemia group B protein isoform X2

    UniProtKB/TrEMBL
    C9J5X9

  3. XM_054326692.1 → XP_054182667.1  Fanconi anemia group B protein isoform X2

    UniProtKB/TrEMBL
    C9J5X9

  4. XM_054326695.1 → XP_054182670.1  Fanconi anemia group B protein isoform X2

    UniProtKB/TrEMBL
    C9J5X9

  5. XM_054326690.1 → XP_054182665.1  Fanconi anemia group B protein isoform X1

    UniProtKB/Swiss-Prot
    B2RMZ4, Q7Z2U2, Q86XG1, Q8NB91

  6. XM_054326691.1 → XP_054182666.1  Fanconi anemia group B protein isoform X1

    UniProtKB/Swiss-Prot
    B2RMZ4, Q7Z2U2, Q86XG1, Q8NB91

RNA

  1. XR_008485471.1 RNA Sequence

  2. XR_008485469.1 RNA Sequence

  3. XR_008485468.1 RNA Sequence

  4. XR_008485470.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NB91.1 GenPept UniProtKB/Swiss-Prot:Q8NB91

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