Details for: GJB3

Gene ID: 2707

Symbol: GJB3

Ensembl ID: ENSG00000188910

Description: gap junction protein beta 3

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: hematopoietic stem cell (CL0000037)
    Fold Change: 23.5766
    Cell Significance Index: 403.0200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 23.2365
    Cell Significance Index: -9.4400
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 5.8843
    Cell Significance Index: 17.5000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.8621
    Cell Significance Index: -13.0300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.7301
    Cell Significance Index: 141.8200
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 2.4067
    Cell Significance Index: 5.4300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.2860
    Cell Significance Index: 31.1900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.9749
    Cell Significance Index: 53.7600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.4394
    Cell Significance Index: 20.4900
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 1.3208
    Cell Significance Index: 11.3500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.1563
    Cell Significance Index: 52.4100
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.0721
    Cell Significance Index: 15.5700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.0145
    Cell Significance Index: 193.0700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8614
    Cell Significance Index: 85.2200
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.7829
    Cell Significance Index: 4.8500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.5886
    Cell Significance Index: 68.6000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.5299
    Cell Significance Index: 7.9400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5166
    Cell Significance Index: 228.4100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5085
    Cell Significance Index: 459.1200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4434
    Cell Significance Index: 72.1200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4221
    Cell Significance Index: 45.9100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3703
    Cell Significance Index: 10.6700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3450
    Cell Significance Index: 20.7100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2165
    Cell Significance Index: 4.6100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1780
    Cell Significance Index: 4.9800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1612
    Cell Significance Index: 19.8200
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.1429
    Cell Significance Index: 2.1700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1234
    Cell Significance Index: 8.5400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1116
    Cell Significance Index: 20.1100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0942
    Cell Significance Index: 2.0400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0624
    Cell Significance Index: 2.0000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0617
    Cell Significance Index: 33.7100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0401
    Cell Significance Index: 1.4100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0067
    Cell Significance Index: 0.8700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.0007
    Cell Significance Index: 0.0400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0040
    Cell Significance Index: -0.1000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0053
    Cell Significance Index: -9.9100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0056
    Cell Significance Index: -0.2800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0068
    Cell Significance Index: -12.5000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0072
    Cell Significance Index: -0.2900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0087
    Cell Significance Index: -13.3500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0100
    Cell Significance Index: -13.6400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0134
    Cell Significance Index: -10.1600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0151
    Cell Significance Index: -11.1500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0186
    Cell Significance Index: -11.8200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0230
    Cell Significance Index: -4.6200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0241
    Cell Significance Index: -13.5900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0249
    Cell Significance Index: -0.6400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0258
    Cell Significance Index: -9.2700
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0313
    Cell Significance Index: -0.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0326
    Cell Significance Index: -14.8200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0424
    Cell Significance Index: -12.2000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0427
    Cell Significance Index: -3.0200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0458
    Cell Significance Index: -0.5200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0474
    Cell Significance Index: -0.7200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0494
    Cell Significance Index: -9.8100
  • Cell Name: eosinophil (CL0000771)
    Fold Change: -0.0550
    Cell Significance Index: -0.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0650
    Cell Significance Index: -11.1100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0652
    Cell Significance Index: -13.7300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0764
    Cell Significance Index: -10.4900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0803
    Cell Significance Index: -11.6800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0804
    Cell Significance Index: -5.9900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0853
    Cell Significance Index: -9.7700
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.1081
    Cell Significance Index: -1.5000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1093
    Cell Significance Index: -12.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1164
    Cell Significance Index: -11.9000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1436
    Cell Significance Index: -9.6600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1452
    Cell Significance Index: -5.3300
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: -0.1536
    Cell Significance Index: -1.1100
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: -0.1579
    Cell Significance Index: -1.2400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1603
    Cell Significance Index: -12.3000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1707
    Cell Significance Index: -8.8900
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.1776
    Cell Significance Index: -2.0700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1850
    Cell Significance Index: -4.6200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1988
    Cell Significance Index: -9.3500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2113
    Cell Significance Index: -12.9900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2351
    Cell Significance Index: -10.9600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2406
    Cell Significance Index: -8.4300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2526
    Cell Significance Index: -14.1800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2636
    Cell Significance Index: -13.8400
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.2642
    Cell Significance Index: -3.0400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2857
    Cell Significance Index: -12.6400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2974
    Cell Significance Index: -7.9700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2981
    Cell Significance Index: -9.7600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.3002
    Cell Significance Index: -5.0500
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.3034
    Cell Significance Index: -3.1300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3137
    Cell Significance Index: -9.9900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3332
    Cell Significance Index: -9.8200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3342
    Cell Significance Index: -12.6600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3380
    Cell Significance Index: -14.7000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3417
    Cell Significance Index: -9.7500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3492
    Cell Significance Index: -9.3300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3565
    Cell Significance Index: -10.4700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3583
    Cell Significance Index: -12.4500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3803
    Cell Significance Index: -10.0000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3808
    Cell Significance Index: -9.5000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.3994
    Cell Significance Index: -6.1800
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.4000
    Cell Significance Index: -4.2200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4147
    Cell Significance Index: -8.6800
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.4223
    Cell Significance Index: -10.5300

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:** GJB3 is a transmembrane protein with six connexin modules, which form a hexameric gap junction channel. The protein is primarily expressed in epithelial cells, stem cells, and hematopoietic stem cells. GJB3 is highly conserved across species, with a high degree of sequence homology to other connexin proteins. The protein has a characteristic topology, with the N- and C-termini exposed to the cytoplasm and the six connexin modules forming a pore for ion and molecule exchange. **Pathways and Functions:** GJB3 is involved in various cellular processes, including: 1. **Cell-cell signaling:** GJB3 forms gap junctions that allow for the exchange of signaling molecules, such as ATP, adenosine, and prostaglandin E2, between adjacent cells. 2. **Cell junction formation:** GJB3 is essential for the assembly and maintenance of gap junctions, which are critical for maintaining tissue homeostasis and regulating cellular behavior. 3. **Ion and metabolite exchange:** GJB3 channels allow for the exchange of ions, such as potassium, sodium, and chloride, as well as metabolites, such as glucose and lactate. 4. **Regulation of cell growth and differentiation:** GJB3 has been implicated in the regulation of cell growth and differentiation, particularly in the context of tissue development and repair. **Signaling Pathways:** GJB3 is involved in various signaling pathways, including: 1. **Cellular response to retinoic acid:** GJB3 has been shown to regulate the cellular response to retinoic acid, a key regulator of cell growth and differentiation. 2. **Connexin complex:** GJB3 interacts with other connexin proteins to form the connexin complex, which is essential for gap junction formation and function. 3. **Vesicle-mediated transport:** GJB3 is involved in the regulation of vesicle-mediated transport, which is critical for maintaining cellular homeostasis. **Clinical Significance:** GJB3 mutations have been implicated in various human diseases, including: 1. **Charcot-Marie-Tooth disease (CMT)**: Mutations in GJB3 have been associated with CMT, a neurodegenerative disorder characterized by peripheral nerve degeneration. 2. **X-linked Charcot-Marie-Tooth disease**: GJB3 mutations have been identified as the cause of X-linked CMT, a severe form of the disease. 3. **Congenital heart block**: GJB3 mutations have been implicated in congenital heart block, a condition characterized by abnormal heart rhythms. In conclusion, GJB3 plays a critical role in maintaining cellular homeostasis and human health. Its involvement in various cellular processes, including cell-cell signaling, cell junction formation, and ion and metabolite exchange, highlights its importance in maintaining tissue function and regulating cellular behavior. The clinical significance of GJB3 mutations in human disease underscores the need for further research into the molecular mechanisms underlying these disorders.

Genular Protein ID: 3105090253

Symbol: CXB3_HUMAN

Name: Gap junction beta-3 protein

UniProtKB Accession Codes:

O75712 B2R790 Q2TAZ8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 2 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 2 SMART 2 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9704026

Title: Human gap junction protein connexin31: molecular cloning and expression analysis.

PubMed ID: 9704026

DOI: 10.1006/bbrc.1998.9070

PubMed ID: 9843209

Title: Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.

PubMed ID: 9843209

DOI: 10.1038/3840

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 9843210

Title: Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.

PubMed ID: 9843210

DOI: 10.1038/3845

PubMed ID: 10594760

Title: Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.

PubMed ID: 10594760

DOI: 10.1046/j.1523-1747.1999.00792.x

PubMed ID: 10757647

Title: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

PubMed ID: 10757647

DOI: 10.1038/sj.ejhg.5200407

PubMed ID: 10798362

Title: The spectrum of mutations in erythrokeratodermias -- novel and de novo mutations in GJB3.

PubMed ID: 10798362

DOI: 10.1007/s004390051045

PubMed ID: 10587579

Title: Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.

PubMed ID: 10587579

DOI: 10.1093/hmg/9.1.63

PubMed ID: 10790215

Title: Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.

PubMed ID: 10790215

DOI: 10.1002/(sici)1098-1004(200005)15:5<481::aid-humu15>3.0.co;2-7

PubMed ID: 19283857

Title: Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.

PubMed ID: 19283857

DOI: 10.1002/ajmg.a.32765

Sequence Information:

  • Length: 270
  • Mass: 30818
  • Checksum: E46D36E5835646A4
  • Sequence:
    • MDWKTLQALL SGVNKYSTAF GRIWLSVVFV FRVLVYVVAA ERVWGDEQKD FDCNTKQPGC 
TNVCYDNYFP ISNIRLWALQ LIFVTCPSLL VILHVAYREE RERRHRQKHG DQCAKLYDNA 
GKKHGGLWWT YLFSLIFKLI IEFLFLYLLH TLWHGFNMPR LVQCANVAPC PNIVDCYIAR 
PTEKKIFTYF MVGASAVCIV LTICELCYLI CHRVLRGLHK DKPRGGCSPS SSASRASTCR 
CHHKLVEAGE VDPDPGNNKL QASAPNLTPI

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.