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Gene · 2705

GJB1: gap junction protein beta 1

12 sourcesgene-search-2026-11-11-0.2.0

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ConductScience Library. GJB1: gap junction protein beta 1. Genes, record 2705. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/2705

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Gene

Symbol
GJB1
HGNC
Name
gap junction protein beta 1
HGNC
NCBI Gene ID
2705
NCBI Gene
HGNC ID
HGNC:4283
HGNC
Ensembl
ENSG00000169562
NCBI Gene
Aliases
CMTX, CMTX1, CX32
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
P08034Gap junction beta-1 protein28315Ensembl, GeneID, HGNC

Source UniProt

Patents66

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2026004568 A2026-01-1447351P08034Espacenet
JP 2026004568 A2026-01-1447352P08034Espacenet
JP 2026004568 A2026-01-1447353P08034Espacenet
EP 4650780 A22025-11-197963P08034Espacenet
JP 2025529142 A2025-09-041718P08034Espacenet
US 12371689 B22025-07-291718P08034Espacenet
JP 2025517970 A2025-06-127963P08034Espacenet
JP 2025032204 A2025-03-1129007P08034Espacenet
JP 2025032204 A2025-03-1129008P08034Espacenet
JP 2025032204 A2025-03-1129010P08034Espacenet

1 to 10 of 66

See all 66 patents

Drugs0

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

None in this release.

Trials0

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

None in this release.

NIH grants1,041

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleGJB1 papersNewest fiscal year
R01GM072631Mechanisms of Gap Junction Regulation92025
R01EY012085Intercellular Communication in the Eye Lens62025
P30CA054174Mays Cancer Center at UT Health SA52025
P30DK034989Yale Liver Center52025
P30CA013330Cancer Center Support Grant42025
P30CA016672Cancer Center Support Grant32025
P30CA036727Buffett Cancer Center Support Grant32025
R01NS072248Genome Studies in Hereditary Spastic Paraplegia- Beyond the Exome32025
P30AG013319San Antonio Nathan Shock Center of Excellence in the Biology of Aging22025
P30CA016058Cancer Center Support Grant22025

1 to 10 of 1,041Source NIH's project files

See all 1,041 nih grants

Papers2,865

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
Role of liver connexins and pannexins in the development of metabolic dysfunction-associated steatotic liver disease (MASLD) in the context of overnutrition: A narrative review.Mol Cell Endocrinol202742648696PubTator, text miningPubMed
Cardiovascular Autonomic Neuropathy in Charcot-Marie-Tooth Disease: A Genotype-Stratified Study of PMP22 Duplication and GJB1 Mutation Carriers.J Peripher Nerv Syst202642802036PubTator, text miningPubMed
Corneal Confocal Microscopy in Hereditary Demyelinating Neuropathies: Small Fiber Involvement in Charcot-Marie-Tooth Disease.Muscle Nerve202642736606PubTator, text miningPubMed
Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease.Neurol Genet202642666903PubTator, text miningPubMed
[Clinical pattern and evolution of Charcot-Marie-Tooth disease in pediatrics].Medicina (B Aires)202642659543PubTator, text miningPubMed
[Stroke mimic after wasp sting in a child with Charcot-Marie-Tooth neuropathy X type 1].An Sist Sanit Navar202642478917PubTator, text miningPubMed
Pediatric stroke-like episodes temporally associated with pollen exposure in GJB1-related CMTX1: an expanded family case report with serial MRI and DTI follow-up.BMC Pediatr202642477620PubTator, text miningPubMed
Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.J Peripher Nerv Syst202642476530PubTator, text miningPubMed
High-Resolution Ultrasound Evaluation of Nerves and Muscles at Multiple Sites in Charcot-Marie-Tooth Disease.J Ultrasound Med202642435318PubTator, text miningPubMed
Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort study.J Neuromuscul Dis202642396985PubTator, text miningPubMed

1 to 10 of 2,865

See all 2,865 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this gene from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/genes/v1/2705

GET https://conductscience.org/api/genes/v1/2705/patents?page=2