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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
    mouse all
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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 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)

    Genotypes

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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