Details for: FANCB

Gene ID: 2187

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: FANCB

Ensembl ID: ENSG00000181544

Description: FA complementation group B

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 18.61
    rCSI 21.5%
    PRS 99.83
  • neural crest cell CL0011012
    CSI 17.82
    rCSI 14.08%
    PRS 99.93
  • melanocyte of skin CL1000458
    CSI 17.44
    rCSI 23.76%
    PRS 97.47
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 14.81
    rCSI 17.95%
    PRS 97.37
  • chondrocyte CL0000138
    CSI 13.69
    rCSI 21.78%
    PRS 99.49
  • basal cell of epidermis CL0002187
    CSI 10.5
    rCSI 18.61%
    PRS 96.45
  • innate lymphoid cell CL0001065
    CSI 10.27
    rCSI 21.21%
    PRS 99.29
  • helper T cell CL0000912
    CSI 8.34
    rCSI 11.8%
    PRS 99.35
  • suprabasal keratinocyte CL4033013
    CSI 8.11
    rCSI 13.23%
    PRS 97.99
  • granulocyte monocyte progenitor cell CL0000557
    CSI 4.53
    rCSI 3.92%
    PRS 99.98

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [FANCB](/details-gene/2187), or Fanconi anemia complementation group B, is a protein-coding gene located on the X chromosome. It is a critical component of the Fanconi Anemia (FA) core complex, a multi-protein assembly essential for the repair of DNA interstrand cross-links (ICLs), a highly toxic form of DNA damage. As part of this complex, [FANCB](/details-gene/2187) is integral to maintaining genomic stability, particularly in rapidly dividing cells. Mutations in this gene result in an X-linked form of Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and a predisposition to cancer ([Link](https://doi.org/10.1038/ng1458)). Reflecting its fundamental role in DNA maintenance, [FANCB](/details-gene/2187) shows significant expression across a range of developmentally active and proliferative cell types, including neural precursors, skin cells, and lymphocytes. ## Cellular Roles and Expression Landscape **Overall**, the expression profile of [FANCB](/details-gene/2187) highlights its importance in cells undergoing significant proliferation, differentiation, or those requiring robust mechanisms for maintaining genomic integrity. The gene's highest significance scores are observed in diverse cell populations with high turnover or developmental potential. Its most notable expression is in progenitor and developmentally crucial cells, including [neuroblast (sensu Nematoda and Protostomia)](/details-cell/CL0000338) (CSI: 18.61) and [neural crest cell](/details-cell/CL0011012) (CSI: 17.82). This suggests a vital role in protecting the genome during the rapid cell divisions that characterize neural development. Significant expression is also seen in tissues with continuous self-renewal, such as the skin, with high CSI values in [melanocyte of skin](/details-cell/CL1000458) (CSI: 17.44), [basal cell of epidermis](/details-cell/CL0002187) (CSI: 10.50), and [suprabasal keratinocyte](/details-cell/CL4033013) (CSI: 8.11). Furthermore, [FANCB](/details-gene/2187) appears to be important within the immune system, particularly in lymphocyte populations that undergo clonal expansion. It is a significant gene in [CD8-positive, alpha-beta memory T cell, CD45RO-positive](/details-cell/CL0001203) (CSI: 14.81), [innate lymphoid cell](/details-cell/CL0001065) (CSI: 10.27), and [helper T cell](/details-cell/CL0000912) (CSI: 8.34). This pattern is consistent with the need for high-fidelity DNA replication and repair during an adaptive immune response. Its relevance is further observed in hematopoietic progenitors like the [granulocyte monocyte progenitor cell](/details-cell/CL0000557) (CSI: 4.53), underscoring its role in the foundation of the hematopoietic system. ## Pathways and Molecular Function The functional annotations for [FANCB](/details-gene/2187) are tightly centered on DNA repair and genome maintenance. It is a core member of the [Fanconi anaemia nuclear complex](/details-cell/GO0043240), where it functions in the [Fanconi anemia pathway](/details-pathway/R-HSA-6783310), a critical mechanism for [interstrand cross-link repair](/details-go/GO0036297). This pathway is essential for resolving DNA lesions that block both replication and transcription, and its failure leads to the cellular and clinical features of Fanconi anemia. The gene's activity is also linked to the regulation of homologous recombination, with annotations for both [positive regulation of double-strand break repair via homologous recombination](/details-go/GO1905168) and [negative regulation of double-strand break repair via homologous recombination](/details-go/GO2000042), suggesting a nuanced role in orchestrating DNA repair choices. Beyond its canonical role in DNA repair, [FANCB](/details-gene/2187) is implicated in broader cellular stress responses and immune signaling. Its involvement in the [immune system](/details-pathway/R-HSA-168256), [cytokine signaling in immune system](/details-pathway/R-HSA-1280215), and [interferon signaling](/details-pathway/R-HSA-913531) pathways provides a molecular basis for its high expression in lymphocytes. This suggests that [FANCB](/details-gene/2187) may function at the intersection of DNA damage response and innate or adaptive immunity, potentially helping to protect immune cells from genotoxic stress during inflammatory responses or rapid proliferation. ## Research Directions The expression and functional data for [FANCB](/details-gene/2187) prompts several avenues for future research into its specific cellular roles beyond its general function in the FA complex. **Proposed Hypotheses:** 1. Given its high expression in diverse progenitor populations ([neuroblast (sensu Nematoda and Protostomia)](/details-cell/CL0000338), [neural crest cell](/details-cell/CL0011012), [basal cell of epidermis](/details-cell/CL0002187)), the function of [FANCB](/details-gene/2187) may be particularly critical for preventing developmental abnormalities by ensuring genomic fidelity during lineage commitment and differentiation. Its dysfunction could contribute to specific congenital defects observed in VACTERL-H syndrome ([Link](https://doi.org/10.1136/jmg.2006.041673)), which is associated with [FANCB](/details-gene/2187) mutations. 2. The significant expression of [FANCB](/details-gene/2187) in memory T cells and ILCs, combined with its link to interferon signaling pathways, suggests a specialized role in protecting long-lived lymphocytes from accumulated genotoxic stress or in facilitating robust clonal expansion during secondary immune responses. **Suggested Experimental Approach:** To test the second hypothesis, one could investigate the consequence of [FANCB](/details-gene/2187) loss in T cells. A powerful approach would be to use CRISPR-Cas9 to knock out [FANCB](/details-gene/2187) in primary human CD8+ T cells. These engineered cells, along with wild-type controls, could be subjected to *in vitro* stimulation (e.g., via anti-CD3/CD28 antibodies) to induce proliferation. During this expansion, cells could be exposed to a low dose of an ICL-inducing agent like mitomycin C. The impact of [FANCB](/details-gene/2187) loss could be assessed by quantifying markers of DNA damage (e.g., γH2AX foci), cell cycle arrest, and apoptosis via flow cytometry and immunofluorescence. This would directly test whether [FANCB](/details-gene/2187) is essential for the survival and expansion of T cells under genotoxic stress. **Therapeutic Potential:** As a crucial DNA repair protein, [FANCB](/details-gene/2187) is generally not a candidate for therapeutic inhibition in healthy individuals. However, its role in conferring resistance to DNA-damaging agents makes it a potential target in oncology. Developing small molecule inhibitors of [FANCB](/details-gene/2187) or the FA pathway could be a powerful strategy to sensitize cancer cells to ICL-inducing chemotherapies like cisplatin or carboplatin. This synthetic lethality approach would be most effective in tumors that may not have other underlying DNA repair defects. Therefore, inhibition of [FANCB](/details-gene/2187) could represent a viable chemosensitization strategy in specific cancer contexts.

Genular Protein ID: 875977352

Symbol: FANCB_HUMAN

Name: Fanconi anemia group B protein

UniProtKB Accession Codes:

Q8NB91 B2RMZ4 Q7Z2U2 Q86XG1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EMDB 6 Ensembl 5 ExpressionAtlas 1 GO 8 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 4 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15502827

Title: X-linked inheritance of Fanconi anemia complementation group B.

PubMed ID: 15502827

DOI: 10.1038/ng1458

PubMed ID: 16116422

Title: A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.

PubMed ID: 16116422

DOI: 10.1038/ng1626

PubMed ID: 16679491

Title: Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.

PubMed ID: 16679491

DOI: 10.1136/jmg.2006.041673

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23033978

Title: Diagnostic exome sequencing in persons with severe intellectual disability.

PubMed ID: 23033978

DOI: 10.1056/nejmoa1206524

Sequence Information:

  • Length: 859
  • Mass: 97726
  • Checksum: 6CECD725B63C3901
  • Sequence:
    • MTSKQAMSSN EQERLLCYNG EVLVFQLSKG NFADKEPTKT PILHVRRMVF DRGTKVFVQK 
STGFFTIKEE NSHLKIMCCN CVSDFRTGIN LPYIVIEKNK KNNVFEYFLL ILHSTNKFEM 
RLSFKLGYEM KDGLRVLNGP LILWRHVKAF FFISSQTGKV VSVSGNFSSI QWAGEIENLG 
MVLLGLKECC LSEEECTQEP SKSDYAIWNT KFCVYSLESQ EVLSDIYIIP PAYSSVVTYV 
HICATEIIKN QLRISLIALT RKNQLISFQN GTPKNVCQLP FGDPCAVQLM DSGGGNLFFV 
VSFISNNACA VWKESFQVAA KWEKLSLVLI DDFIGSGTEQ VLLLFKDSLN SDCLTSFKIT 
DLGKINYSSE PSDCNEDDLF EDKQENRYLV VPPLETGLKV CFSSFRELRQ HLLLKEKIIS 
KSYKALINLV QGKDDNTSSA EEKECLVPLC GEEENSVHIL DEKLSDNFQD SEQLVEKIWY 
RVIDDSLVVG VKTTSSLKLS LNDVTLSLLM DQAHDSRFRL LKCQNRVIKL STNPFPAPYL 
MPCEIGLEAK RVTLTPDSKK EESFVCEHPS KKECVQIITA VTSLSPLLTF SKFCCTVLLQ 
IMERESGNCP KDRYVVCGRV FLSLEDLSTG KYLLTFPKKK PIEHMEDLFA LLAAFHKSCF 
QITSPGYALN SMKVWLLEHM KCEIIKEFPE VYFCERPGSF YGTLFTWKQR TPFEGILIIY 
SRNQTVMFQC LHNLIRILPI NCFLKNLKSG SENFLIDNMA FTLEKELVTL SSLSSAIAKH 
ESNFMQRCEV SKGKSSVVAA ALSDRRENIH PYRKELQREK KKMLQTNLKV SGALYREITL 
KVAEVQLKSD FAAQKLSNL

Genular Protein ID: 2000015413

Symbol: C9J5X9_HUMAN

Name: N/A

UniProtKB Accession Codes:

C9J5X9

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 Bgee 1 CTD 1 ChiTaRS 1 DisGeNET 1 EMBL 5 Ensembl 2 ExpressionAtlas 1 GO 2 GeneTree 1 HGNC 1 HOGENOM 1 IntAct 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 PANTHER 2 PeptideAtlas 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 SMR 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

Sequence Information:

  • Length: 832
  • Mass: 94822
  • Checksum: AF04B8BA52351553
  • Sequence:
    • MTSKQAMSSN EQERLLCYNG EVLVFQLSKG NFADKEPTKT PILHVRRMVF DRGTKVFVQK 
STGFFTIKEE NSHLKIMCCN CVSDFRTGIN LPYIVIEKNK KNNVFEYFLL ILHSTNKFEM 
RLSFKLGYEM KDGLRVLNGP LILWRHVKAF FFISSQTGKV VSVSGNFSSI QWAGEIENLG 
MVLLGLKECC LSEEECTQEP SKSDYAIWNT KFCVYSLESQ EVLSDIYIIP PAYSSVVTYV 
HICATEIIKN QLRISLIALT RKNQLISFQN GTPKNVCQLP FGDPCAVQLM DSGGGNLFFV 
VSFISNNACA VWKESFQVAA KWEKLSLVLI DDFIGSGTEQ VLLLFKDSLN SDCLTSFKIT 
DLGKINYSSE PSDCNEDDLF EDKQENRYLV VPPLETGLKV CFSSFRELRQ HLLLKEKIIS 
KSYKALINLV QGKDDNTSSA EEKECLVPLC GEEENSVHIL DEKLSDNFQD SEQLVEKIWY 
RVIDDSLVVG VKTTSSLKLS LNDVTLSLLM DQAHDSRFRL LKCQNRVIKL STNPFPAPYL 
MPCEIGLEAK RVTLTPDSKK EESFVCEHPS KKECVQIITA VTSLSPLLTF SKFCCTVLLQ 
IMERESGNCP KDRYVVCGRV FLSLEDLSTG KYLLTFPKKK PIEHMEDLFA LLAAFHKSCF 
QITSPGYALN SMKVWLLEHM KCEIIKEFPE VYFCERPGSF YGTLFTWKQR TPFEGILIIY 
SRNQTVMFQC LHNLIRILPI NCFLKNLKSG SENFLIDNMA FTLEKELVTL SSLSSAIAKH 
ESNFMQRCEV SKGKSSVVAA ALSDRRENIH PYRKELQREK KKMLQTNLKW PS