Details for: FANCB

Gene ID: 2187

Symbol: FANCB

Ensembl ID: ENSG00000181544

Description: FA complementation group B

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 36.4203
    Cell Significance Index: -5.6700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 33.2356
    Cell Significance Index: -8.4300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 18.6335
    Cell Significance Index: -7.5700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 7.9184
    Cell Significance Index: -7.5600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 7.1414
    Cell Significance Index: -8.8100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.3335
    Cell Significance Index: -8.9300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.3208
    Cell Significance Index: 28.1300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8523
    Cell Significance Index: 84.3100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.6077
    Cell Significance Index: 34.1000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4920
    Cell Significance Index: 80.0200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4341
    Cell Significance Index: 47.2200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3383
    Cell Significance Index: 20.3100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2891
    Cell Significance Index: 7.7200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2865
    Cell Significance Index: 56.8500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2653
    Cell Significance Index: 31.2900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2567
    Cell Significance Index: 48.8500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2068
    Cell Significance Index: 5.7800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1972
    Cell Significance Index: 5.2800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1906
    Cell Significance Index: 38.2400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0806
    Cell Significance Index: 35.6300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0626
    Cell Significance Index: 4.4300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0599
    Cell Significance Index: 21.5000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0560
    Cell Significance Index: 30.5900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0541
    Cell Significance Index: 1.5600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0425
    Cell Significance Index: 7.6700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0373
    Cell Significance Index: 33.7100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0365
    Cell Significance Index: 2.5300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0145
    Cell Significance Index: 1.7800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0136
    Cell Significance Index: 0.3400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0082
    Cell Significance Index: 0.3800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0057
    Cell Significance Index: 3.9700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0042
    Cell Significance Index: 6.4600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0036
    Cell Significance Index: 6.7700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0035
    Cell Significance Index: 6.4400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0022
    Cell Significance Index: 0.1400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0010
    Cell Significance Index: -0.0200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0014
    Cell Significance Index: -0.0300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0024
    Cell Significance Index: -0.1100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0028
    Cell Significance Index: -0.1000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0047
    Cell Significance Index: -3.0000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0078
    Cell Significance Index: -10.5900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0109
    Cell Significance Index: -8.0200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0117
    Cell Significance Index: -8.8800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0123
    Cell Significance Index: -1.5800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0132
    Cell Significance Index: -1.9200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0148
    Cell Significance Index: -2.0300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0155
    Cell Significance Index: -11.4900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0156
    Cell Significance Index: -0.6900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0165
    Cell Significance Index: -7.4900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0169
    Cell Significance Index: -0.2900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0200
    Cell Significance Index: -5.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0201
    Cell Significance Index: -11.3600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0218
    Cell Significance Index: -1.1400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0227
    Cell Significance Index: -0.8600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0343
    Cell Significance Index: -0.7500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0355
    Cell Significance Index: -4.1400
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.0358
    Cell Significance Index: -0.2600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0394
    Cell Significance Index: -2.6500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0425
    Cell Significance Index: -2.6100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0430
    Cell Significance Index: -0.9000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0476
    Cell Significance Index: -8.1300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0550
    Cell Significance Index: -7.1100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0574
    Cell Significance Index: -12.0900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0607
    Cell Significance Index: -0.6600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0649
    Cell Significance Index: -6.6300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0722
    Cell Significance Index: -8.2700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0731
    Cell Significance Index: -2.3400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0832
    Cell Significance Index: -8.6600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0837
    Cell Significance Index: -5.1300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0920
    Cell Significance Index: -4.7900
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0931
    Cell Significance Index: -1.3100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0935
    Cell Significance Index: -4.4000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0999
    Cell Significance Index: -7.4500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1063
    Cell Significance Index: -8.4200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1080
    Cell Significance Index: -2.7600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1150
    Cell Significance Index: -7.2500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1154
    Cell Significance Index: -4.0100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1168
    Cell Significance Index: -8.9600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1202
    Cell Significance Index: -3.0900
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.1557
    Cell Significance Index: -2.1600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1581
    Cell Significance Index: -4.2400
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1584
    Cell Significance Index: -2.2700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1672
    Cell Significance Index: -8.7800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1772
    Cell Significance Index: -2.6700
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.1792
    Cell Significance Index: -1.7100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1881
    Cell Significance Index: -5.9900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1931
    Cell Significance Index: -5.2600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1967
    Cell Significance Index: -2.8000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1992
    Cell Significance Index: -1.3500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2032
    Cell Significance Index: -5.8000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2036
    Cell Significance Index: -6.6700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2051
    Cell Significance Index: -2.3300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2052
    Cell Significance Index: -7.1900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2073
    Cell Significance Index: -3.4700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2225
    Cell Significance Index: -6.5600
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.2351
    Cell Significance Index: -1.4000
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.2500
    Cell Significance Index: -2.8300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2530
    Cell Significance Index: -7.4300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2539
    Cell Significance Index: -12.8300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2549
    Cell Significance Index: -3.6500

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.

Other Information

**Key Characteristics:** The FANCB gene encodes for the Fanconi anemia group B protein (FANCB), a 33-kDa protein that interacts with other FA proteins to form the FA nuclear complex. This complex plays a central role in the repair of interstrand cross-links (ICLs) in DNA, a type of damage that can be caused by environmental mutagens, such as UV radiation and certain chemicals. Mutations in the FANCB gene can lead to the accumulation of ICLs, resulting in chromosomal instability and the development of cancer. **Pathways and Functions:** The FANCB gene is involved in multiple pathways, including: 1. **DNA Repair:** FANCB is a key component of the FA pathway, which is responsible for the repair of ICLs in DNA. This pathway is crucial for maintaining genomic stability and preventing the accumulation of mutations that can lead to cancer. 2. **Antiviral Mechanisms:** FANCB is also involved in the regulation of interferon-stimulated genes, which are essential for the innate immune response against viral infections. 3. **Cytokine Signaling:** FANCB interacts with other proteins to modulate cytokine signaling, which is critical for the proper functioning of the immune system. 4. **Chromatin Remodeling:** FANCB is involved in chromatin remodeling, which is essential for the regulation of gene expression and the maintenance of genome stability. **Clinical Significance:** Mutations in the FANCB gene are associated with Fanconi anemia, a rare genetic disorder characterized by: 1. **Bone Marrow Failure:** Patients with FA often experience bone marrow failure, leading to anemia, neutropenia, and thrombocytopenia. 2. **Cancer Susceptibility:** FA patients are at increased risk of developing cancer, particularly leukemia and solid tumors. 3. **Genomic Instability:** FA is characterized by chromosomal instability, which can lead to the development of cancer and other complications. In addition to its association with FA, the FANCB gene has also been implicated in other diseases, including: 1. **Immunodeficiency:** Mutations in the FANCB gene have been linked to immunodeficiency disorders, such as severe combined immunodeficiency (SCID). 2. **Neurological Disorders:** FANCB has been implicated in the pathogenesis of neurological disorders, such as epilepsy and schizophrenia. In conclusion, the FANCB gene plays a critical role in DNA repair, antiviral mechanisms, and immune regulation. Its dysregulation can lead to a range of diseases, including Fanconi anemia, immunodeficiency disorders, and neurological disorders. Further research into the FANCB gene and its associated diseases is essential for the development of effective therapeutic strategies and the improvement of patient outcomes.

Genular Protein ID: 875977352

Symbol: FANCB_HUMAN

Name: Fanconi anemia group B protein

UniProtKB Accession Codes:

Database IDs:

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:

Database IDs:

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

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.