Details for: GJB3

Gene ID: 2707

Symbol: GJB3

Ensembl ID: ENSG00000188910

Description: gap junction protein beta 3

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 7.04
    Marker Score: 9720
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 4.97
    Marker Score: 2616
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 2.18
    Marker Score: 1443
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.17
    Marker Score: 1709
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 2.08
    Marker Score: 868
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.76
    Marker Score: 13743
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.52
    Marker Score: 1595
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.34
    Marker Score: 11567
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.33
    Marker Score: 450
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251807
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.01
    Marker Score: 2476.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71824
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48049
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 512
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.99
    Marker Score: 1462
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 465
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.94
    Marker Score: 1040.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5259
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2741
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 328
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5287
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.86
    Marker Score: 498
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.84
    Marker Score: 6220
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.83
    Marker Score: 334
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 399
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.73
    Marker Score: 611
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 0.71
    Marker Score: 171
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7
    Marker Score: 445
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.66
    Marker Score: 2754
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.64
    Marker Score: 824
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.64
    Marker Score: 636
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.6
    Marker Score: 477
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.53
    Marker Score: 472
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.52
    Marker Score: 396
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.52
    Marker Score: 286
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.51
    Marker Score: 291
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.51
    Marker Score: 932
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.49
    Marker Score: 6629
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.48
    Marker Score: 236
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 280
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.44
    Marker Score: 834
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.43
    Marker Score: 157
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.43
    Marker Score: 697
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.41
    Marker Score: 129
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.37
    Marker Score: 5818
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.36
    Marker Score: 2280
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.35
    Marker Score: 163
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.35
    Marker Score: 349
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.34
    Marker Score: 227
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.33
    Marker Score: 150
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.32
    Marker Score: 216
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.32
    Marker Score: 1525
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.32
    Marker Score: 216
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.32
    Marker Score: 750
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.31
    Marker Score: 223
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.3
    Marker Score: 956
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.3
    Marker Score: 345
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.29
    Marker Score: 84
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.27
    Marker Score: 70
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.26
    Marker Score: 141
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.26
    Marker Score: 732
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 66
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.23
    Marker Score: 69
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 76
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.22
    Marker Score: 682
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.22
    Marker Score: 227
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.21
    Marker Score: 124
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.21
    Marker Score: 96
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.21
    Marker Score: 516
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.21
    Marker Score: 100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.21
    Marker Score: 60
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.2
    Marker Score: 75
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.2
    Marker Score: 40
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.2
    Marker Score: 403
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.19
    Marker Score: 271
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.19
    Marker Score: 386.5
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.18
    Marker Score: 64
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.18
    Marker Score: 56
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.17
    Marker Score: 269
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.16
    Marker Score: 40
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.16
    Marker Score: 182
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.16
    Marker Score: 66
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.16
    Marker Score: 360
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.16
    Marker Score: 278
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.15
    Marker Score: 588
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.15
    Marker Score: 521
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.15
    Marker Score: 78
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.14
    Marker Score: 4919.5
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.14
    Marker Score: 226
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.14
    Marker Score: 123
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.14
    Marker Score: 95
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.14
    Marker Score: 31
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.13
    Marker Score: 78
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.13
    Marker Score: 149
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.13
    Marker Score: 63
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.13
    Marker Score: 79

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Other Information

**Key characteristics:** * GJB3 is a transmembrane protein that is expressed in the plasma membrane of cells. * It is a member of the gap junction protein family, which also includes GJB1 and GJB4. * GJB3 is a homophilic protein, meaning that it only interacts with other GJB3 proteins. * It is a key component of the gap junction, a specialized structure that connects the cytoplasm of adjacent cells. * GJB3 is involved in cell-cell signaling, cell junction assembly, and gap junction trafficking. **Pathways and functions:** * GJB3 is involved in cell-cell signaling by interacting with other gap junction proteins, such as GJB1 and GJB4. * It is also involved in cell junction assembly, where it helps to form new gap junctions between cells. * GJB3 is involved in gap junction trafficking, where it moves between cells to maintain the integrity of the tissue. * It is involved in various cellular processes, including cell migration, proliferation, and differentiation. **Clinical significance:** * Mutations in the GJB3 gene have been linked to several human diseases, including autism, epilepsy, and heart disease. * These mutations can disrupt the function of GJB3, leading to the formation of abnormal gap junctions and tissue defects. **Additional information:** * GJB3 is a highly conserved protein, with a sequence that is found in mammals, birds, and reptiles. * It is expressed in high levels in the skin, lungs, and brain. * It is a secreted protein, which means that it is not located in the cell membrane. * It is a relatively small protein, with a molecular weight of approximately 140 kDa.

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 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 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 1 RefSeq 2 SAM 1 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. For the full schema, download it here.