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This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and... See more...
Aliases for GJB1 Gene
Aliases for GJB1 Gene
External Ids for GJB1 Gene
- HGNC: 4283
- NCBI Entrez Gene: 2705
- Ensembl: ENSG00000169562
- OMIM®: 304040
- UniProtKB/Swiss-Prot: P08034
Previous HGNC Symbols for GJB1 Gene
- CMTX1
- CMTX
Previous GeneCards Identifiers for GJB1 Gene
- GC0XP066608
- GC0XP067912
- GC0XP068668
- GC0XP069301
- GC0XP070218
- GC0XP070351
- GC0XP070435
- GC0XP064252
- GC0XP071215
Summaries for GJB1 Gene
-
This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
GeneCards Summary for GJB1 Gene
GJB1 (Gap Junction Protein Beta 1) is a Protein Coding gene. Diseases associated with GJB1 include Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 and Charcot-Marie-Tooth Disease. Among its related pathways are Transport of connexins along the secretory pathway and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJB6.
UniProtKB/Swiss-Prot Summary for GJB1 Gene
-
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
-
Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).
Additional gene information for GJB1 Gene
- HGNC (4283)
- NCBI Entrez Gene (2705)
- Ensembl (ENSG00000169562)
- OMIM® (304040)
- UniProtKB/Swiss-Prot (P08034)
- Open Targets Platform(ENSG00000169562)
- Monarch Initiative
- Search for GJB1 at DataMed
- Search for GJB1 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJB1 Gene
Genomics for GJB1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GJB1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ071213 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE dbSUPER | 250.7 | +3.1 | 3105 | 4.2 | MXD4 CEBPA ZFP64 HOMEZ FOXA2 SMAD4 SAP130 RXRA MIER3 KMT2B | GJB1 NONO TAF1 OGT MED12 P2RY4 ENSG00000229601 PABPN1P1 ARR3 RHOG2P | |
| GH0XJ071223 | Promoter | 0.4 | EPDnew | 250.4 | +10.4 | 10394 | 0.1 | RBFOX2 | RF00484 GJB1 ZMYM3 RF00017-8507 NONO | |
| GH0XJ071227 | Enhancer | 1 | ENCODE dbSUPER | 11 | +15.2 | 15165 | 1.8 | CEBPA KDM6A FOXA2 SMAD4 SAP130 RXRA ZSCAN9 ETV4 RARA ZBTB33 | RF00017-8508 ZMYM3 GJB1 SNX12 RTL5 RF00484 RF00017-8507 NONO | |
| GH0XJ071224 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 8.2 | +12.8 | 12790 | 2.8 | CEBPA SMAD4 SAP130 MIER3 RARA BCL6 HMG20A NR2F6 ELF3 RXRB | ZMYM3 GJB1 NONO RF00484 RF00017-8508 RF00017-8507 | |
| GH0XJ071191 | Enhancer | 0.5 | FANTOM5 Ensembl | 5.5 | -21.3 | -21310 | 1.8 | ZBTB40 NANOG | GJB1 TEX11 ENSG00000228427 LOC107985688 lnc-NLGN3-2 NLGN3 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GJB1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GJB1
- Top Transcription factor binding sites by QIAGEN in the GJB1 gene promoter:
-
- CP1A
- CP1C
- FOXL1
- MRF-2
- p53
- SEF-1 (1)
Genomic Locations for GJB1 Gene
Latest Assembly
- chrX:71,212,811-71,225,516
- (GRCh38/hg38)
- Size:
- 12,706 bases
- Orientation:
- Plus strand
Previous Assembly
- chrX:70,435,089-70,445,366
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 10,278 bases
- Orientation:
- Plus strand
- chrX:70,435,044-70,445,366
- (GRCh37/hg19 by Ensembl)
- Size:
- 10,323 bases
- Orientation:
- Plus strand
Genomic View for GJB1 Gene
Genes around GJB1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq13.1 by HGNC
- Xq13.1 by Entrez Gene
- Xq13.1 by Ensembl
GJB1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GJB1 Gene
Proteins for GJB1 Gene
-
Protein details for GJB1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P08034-CXB1_HUMAN
- Recommended name:
- Gap junction beta-1 protein
- Protein Accession:
- P08034
- B2R8R2
- D3DVV2
- Q5U0S4
Protein attributes for GJB1 Gene
- Size:
- 283 amino acids
- Molecular mass:
- 32025 Da
- Quaternary structure:
-
- A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).
Protein Expression for GJB1 Gene
Post-translational modifications for GJB1 Gene
Other Protein References for GJB1 Gene
Antibodies for research
- LifeSpan BioSciences GJB1 / CX32 / Connexin 32 Antibody
- G Biosciences Immunotag™ Connexin 32 Antibody
- NSJ Bioreagents Connexin 32 Antibody / GJB1 (Mouse Monoclonal)
-
Custom Antibody ServicesOriGene Antibodies for GJB1
- Novus Biologicals Antibodies for GJB1
-
Abcam antibodies for GJB1
- Invitrogen Antibodies for GJB1 (AFLGC-GJB1)
- antibodies-online: Show 33 available GJB1 Antibodies ranked by validation data
- Compare Top GJB1 Antibodies
-
Recommended
- 151 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 6 FACS Antibodies (anti-mouse)
- 4 IHC (fro) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 2 IP Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 150 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 6 FACS Antibodies (anti-rat)
- 5 IP Antibodies (anti-rat)
- 4 IHC (fro) Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 129 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 6 FACS Antibodies (anti-human)
- 5 IP Antibodies (anti-human)
- 4 IHC (fro) Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
-
Santa Cruz Biotechnology (SCBT) Antibodies for GJB1
Protein products for research
-
OriGene Purified Proteins for GJB1
- Search Origene for MassSpec and Protein Over-expression Lysates for GJB1
- Origene Custom Protein Services for GJB1
-
Abcam proteins for GJB1
Assay products for research
No data available for DME Specific Peptides for GJB1 Gene
Domains & Families for GJB1 Gene
Gene Families for GJB1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for GJB1 Gene
- InterPro:
- Blocks:
-
- Connexin, N terminal
- Gap junction beta-1 protein (Cx32) signature
- ProtoNet:
Suggested Antigen Peptide Sequences for GJB1 Gene
- GenScript: Design optimal peptide antigens:
-
- Gap junction protein (C9JWU8_HUMAN)
- GAP junction 28 kDa liver protein (CXB1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P08034- Family:
-
- Belongs to the connexin family. Beta-type (group I) subfamily.
Function for GJB1 Gene
Molecular function for GJB1 Gene
- UniProtKB/Swiss-Prot Function:
- One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
- GENATLAS Biochemistry:
- gap junction protein,beta 1,32kDa,expressed in liver,thyroid,peripheral nervous sytem,connexin 32,monomer of the connexon (six subunits including GJA3,GJA8,GJB1,GJB2),phosphorylated by EGFR,involved in the auditory pathway and in interactions axon Schwann cell with defective interaction,potentially inducing axonopathy in CMTX1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005243 | gap junction channel activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 32296183 |
Phenotypes for GJB1 Gene
- MGI mutant phenotypes for GJB1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GJB1:
Animal Models for GJB1 Gene
- MGI Knock Outs for GJB1:
-
- Gjb1 Gjb1<tm1Kwi>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GJB1 - Starting at $85 >
- * GJB1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GJB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GJB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GJB1
miRNA for GJB1 Gene
- miRTarBase miRNAs that target GJB1
-
- hsa-miR-335-5p (MIRT018652)
- hsa-miR-6811-5p (MIRT445686)
- hsa-miR-6511b-5p (MIRT445687)
- hsa-miR-4722-5p (MIRT445688)
- hsa-miR-1286 (MIRT445689)
- hsa-miR-873-5p (MIRT445690)
- hsa-miR-4768-3p (MIRT445691)
- hsa-miR-4511 (MIRT445692)
- hsa-miR-3133 (MIRT445693)
- hsa-miR-6746-5p (MIRT455529)
- hsa-miR-4283 (MIRT455530)
- hsa-miR-6721-5p (MIRT455531)
- hsa-miR-4763-3p (MIRT455532)
- hsa-miR-1207-5p (MIRT455533)
- hsa-miR-423-5p (MIRT455534)
- hsa-miR-3184-5p (MIRT455535)
- hsa-miR-6764-5p (MIRT455536)
- hsa-miR-6837-5p (MIRT455537)
- hsa-miR-1915-3p (MIRT455538)
- hsa-miR-4685-5p (MIRT455539)
- hsa-miR-6813-5p (MIRT455540)
- hsa-miR-6085 (MIRT455541)
- hsa-miR-7843-5p (MIRT455542)
- hsa-miR-6879-5p (MIRT455543)
- hsa-miR-6735-5p (MIRT455544)
- hsa-miR-4632-5p (MIRT455545)
- hsa-miR-4779 (MIRT455546)
- hsa-miR-4436b-3p (MIRT455547)
- hsa-miR-6891-5p (MIRT455548)
- hsa-miR-3173-3p (MIRT455549)
- hsa-miR-502-5p (MIRT657855)
- hsa-miR-1306-5p (MIRT657856)
- hsa-miR-6802-3p (MIRT662898)
- hsa-miR-6862-3p (MIRT662899)
- hsa-miR-6784-3p (MIRT662900)
- hsa-miR-660-3p (MIRT662901)
- hsa-miR-6833-3p (MIRT713538)
- hsa-miR-4768-5p (MIRT713539)
- hsa-miR-6894-3p (MIRT713540)
- hsa-miR-5001-3p (MIRT713541)
- hsa-miR-6873-3p (MIRT713542)
- hsa-miR-6867-3p (MIRT713543)
- hsa-miR-103a-2-5p (MIRT713544)
- hsa-miR-4763-5p (MIRT713545)
- hsa-miR-942-5p (MIRT713546)
- hsa-miR-6817-3p (MIRT713547)
- hsa-miR-7110-3p (MIRT713548)
- hsa-miR-6845-3p (MIRT713549)
- hsa-miR-4685-3p (MIRT713550)
- hsa-miR-4287 (MIRT713551)
- hsa-miR-7113-3p (MIRT713552)
- hsa-miR-4686 (MIRT713553)
- hsa-miR-4469 (MIRT713554)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GJB1
- Browse OriGene Inhibitory RNA Products For GJB1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJB1
Clone products for research
- Applied Biological Materials (abm): Clones for GJB1 - Starting at $45 >
- * GJB1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GJB1
- Addgene plasmids for GJB1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GJB1
Cell Lines for research
-
Horizon Cell Lines for GJB1
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for GJB1 Gene
Localization for GJB1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GJB1 Gene
- Cell membrane. Multi-pass membrane protein. Cell junction, gap junction.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005921 | gap junction | IEA | -- |
| GO:0005922 | connexin complex | TAS,IBA | 21873635 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for GJB1 Gene
Pathways & Interactions for GJB1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Gap junction trafficking | ||
| 2 | Vesicle-mediated transport | ||
| 3 | Transport of connexins along the secretory pathway | ||
| 4 | G-Beta Gamma Signaling |
Signaling in Gap Junctions
.30
|
|
| 5 | Development Slit-Robo signaling |
Cell adhesion Gap junctions
.30
|
|
Pathways by source for GJB1 Gene
3 BioSystems pathways for GJB1 Gene
7 Reactome pathways for GJB1 Gene
1 GeneGo (Thomson Reuters) pathway for GJB1 Gene
- Cell adhesion Gap junctions
1 Qiagen pathway for GJB1 Gene
- Signaling in Gap Junctions
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007154 | cell communication | IEA | -- |
| GO:0007267 | cell-cell signaling | TAS,IBA | 21873635 |
| GO:0007399 | nervous system development | TAS | 8266101 |
| GO:0015868 | purine ribonucleotide transport | IEA | -- |
| GO:0016264 | gap junction assembly | TAS | -- |
Drugs & Compounds for GJB1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Flufenamic acid | Approved | Pharma | Inhibitor | Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 | 0 | |
| Carbenoxolone | Experimental | Pharma | Inhibitor | 0 | ||
| octanol | Investigational | Pharma | Inhibitor | 0 | ||
| Ca<sup>2+</sup> | Pharma | Inhibitor | 0 | |||
| Gap19 | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(5) Tocris Compounds for GJB1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 10Panx | Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions | 955091-53-9 |
| Carbenoxolone disodium | Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase | 7421-40-1 |
| Gap 26 | Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release | 197250-15-0 |
| Gap 27 | Selective gap junction blocker | 198284-64-9 |
| Scrambled 10Panx | Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide | 1315378-72-3 |
(1) ApexBio Compounds for GJB1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Gap19 | 1507930-57-5 |
Transcripts for GJB1 Gene
mRNA/cDNA for GJB1 Gene
- 2 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000361726 1937 nts (view in UCSC)
- ENST00000374029 1625 nts (view in UCSC)
- ENST00000447581 2040 nts (view in UCSC)
- ENST00000645009 2069 nts (view in UCSC)
- ENST00000646835 1860 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GJB1 - Starting at $85 >
- * GJB1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GJB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GJB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GJB1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GJB1
- Browse OriGene Inhibitory RNA Products For GJB1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJB1
Clone products for research
- Applied Biological Materials (abm): Clones for GJB1 - Starting at $45 >
- * GJB1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GJB1
- Addgene plasmids for GJB1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GJB1
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||
| SP2: | - | - | |||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||
| SP4: | - | - |
Relevant External Links for GJB1 Gene
- GeneLoc Exon Structure for
- GJB1
Expression for GJB1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Peripheral Nervous System (Nervous System)
- Myelinating Schwann Cells Peripheral Nerve Domain
-
Glial Cells
- Myelinating Schwann Cells Peripheral Nerve Domain
mRNA differential expression in normal tissues according to GTEx for GJB1 Gene
This gene is overexpressed in Liver (x16.7), Brain - Spinal cord (cervical c-1) (x7.6), Pancreas (x5.8), and Brain - Substantia nigra (x4.5).
This gene is overexpressed in Liver (37.3), Spinal cord (15.5), and Urine (10.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GJB1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GJB1
SOURCE GeneReport for Unigene cluster for GJB1 Gene:
Hs.333303Evidence on tissue expression from TISSUES for GJB1 Gene
- Nervous system(4.9)
- Skin(4.8)
- Liver(4.8)
- Kidney(2.9)
- Pancreas(2.4)
- Intestine(2.2)
- Stomach(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GJB1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
- mouth
- pharynx
Thorax:
- esophagus
Abdomen:
- stomach
Limb:
- arm
- digit
- foot
- forearm
- hand
- lower limb
- shin
- thigh
- toe
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer products for research
-
OriGene qPCR primer pairs for GJB1
-
OriGene qPCR primer pairs and template standards for GJB1
Gene Expression Assays for research
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GJB1 Gene
Orthologs for GJB1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GJB1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GJB1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GJB1 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gjb1 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | GJB1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gjb1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GJB1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GJB1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GJB1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gjb1 30 |
|
||
| Str.6225 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | gjb1-A-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cx27.5 30 31 |
|
OneToMany | |
| cx31.7 30 31 |
|
OneToMany |
- Species where no ortholog for GJB1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for GJB1 Gene
- ENSEMBL:
- Gene Tree for GJB1 (if available)
- TreeFam:
- Gene Tree for GJB1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GJB1: view image
Paralogs for GJB1 Gene
Paralogs for GJB1 Gene
(15) SIMAP similar genes for GJB1 Gene using alignment to 2 proteins:
- CXB1_HUMAN
- C9JWU8_HUMAN
Variants for GJB1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GJB1 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 837766 | Uncertain Significance: Charcot-Marie-Tooth Neuropathy X | 71,224,342(+) |
T/G NM_000166.6(GJB1):c.635T>G (p.Leu212Arg) |
MISSENSE | |
| 838209 | Pathogenic: Charcot-Marie-Tooth Neuropathy X | 71,224,211(+) |
C/A NM_000166.6(GJB1):c.504C>A (p.Cys168Ter) |
NONSENSE | |
| 840624 | Uncertain Significance: Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X | 71,224,208(+) |
G/T NM_000166.6(GJB1):c.501G>T (p.Lys167Asn) |
MISSENSE | |
| 841323 | Pathogenic: Charcot-Marie-Tooth Neuropathy X | 71,223,906(+) |
C/T NM_000166.6(GJB1):c.199C>T (p.Gln67Ter) |
NONSENSE | |
| 843172 | Uncertain Significance: Charcot-Marie-Tooth Neuropathy X | 71,224,047(+) |
C/A NM_000166.6(GJB1):c.340C>A (p.Pro114Thr) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1584074 | OTHER | inversion | 17803354 |
| esv33082 | CNV | loss | 17666407 |
| esv3576924 | CNV | gain | 25503493 |
| nsv508781 | CNV | insertion | 20534489 |
Residual Variation Intolerance Score:
60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.50;
10.86% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GJB1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJB1 Gene
Disorders for GJB1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, x-linked dominant, 1 |
|
|
| charcot-marie-tooth disease |
|
|
| hypertrophic neuropathy of dejerine-sottas |
|
|
| spinocerebellar ataxia, x-linked 1 |
|
|
| x-linked charcot-marie-tooth disease |
|
|
Search GJB1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CXB1_HUMAN- Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur. {ECO:0000269 PubMed:10071100, ECO:0000269 PubMed:10220155, ECO:0000269 PubMed:10234007, ECO:0000269 PubMed:10586284, ECO:0000269 PubMed:10732813, ECO:0000269 PubMed:10737979, ECO:0000269 PubMed:10873293, ECO:0000269 PubMed:10894999, ECO:0000269 PubMed:10923043, ECO:0000269 PubMed:10938190, ECO:0000269 PubMed:11030070, ECO:0000269 PubMed:11140841, ECO:0000269 PubMed:11180613, ECO:0000269 PubMed:11437164, ECO:0000269 PubMed:11438991, ECO:0000269 PubMed:11562788, ECO:0000269 PubMed:11571214, ECO:0000269 PubMed:11723288, ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:11891346, ECO:0000269 PubMed:12185164, ECO:0000269 PubMed:12207932, ECO:0000269 PubMed:12325071, ECO:0000269 PubMed:12402337, ECO:0000269 PubMed:12477701, ECO:0000269 PubMed:12497641, ECO:0000269 PubMed:12536289, ECO:0000269 PubMed:12707076, ECO:0000269 PubMed:14627639, ECO:0000269 PubMed:15241803, ECO:0000269 PubMed:15468313, ECO:0000269 PubMed:15852376, ECO:0000269 PubMed:27234031, ECO:0000269 PubMed:7477983, ECO:0000269 PubMed:7833935, ECO:0000269 PubMed:8004109, ECO:0000269 PubMed:8162049, ECO:0000269 PubMed:8266101, ECO:0000269 PubMed:8628473, ECO:0000269 PubMed:8698335, ECO:0000269 PubMed:8733054, ECO:0000269 PubMed:8737658, ECO:0000269 PubMed:8807343, ECO:0000269 PubMed:8829637, ECO:0000269 PubMed:8889588, ECO:0000269 PubMed:8956046, ECO:0000269 PubMed:8990008, ECO:0000269 PubMed:9018031, ECO:0000269 PubMed:9099841, ECO:0000269 PubMed:9187667, ECO:0000269 PubMed:9272161, ECO:0000269 PubMed:9361298, ECO:0000269 PubMed:9452025, ECO:0000269 PubMed:9452099, ECO:0000269 PubMed:9469569, ECO:0000269 PubMed:9633821, ECO:0000269 PubMed:9818870, ECO:0000269 PubMed:9856562, ECO:0000269 Ref.12}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269 PubMed:15947997}. Note=The gene represented in this entry may act as a disease modifier.
Additional Disease Information for GJB1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for GJB1 Gene
Publications for GJB1 Gene
- Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. (PMID: 15947997) Chung KW … Choi BO (Neurogenetics 2005) 3 4 23 74
- Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (PMID: 15241803) Choi BO … Chung KW (Human mutation 2004) 3 4 23 74
- Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID: 11835375) Boerkoel CF … Lupski JR (Annals of neurology 2002) 3 4 23 41
- Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. (PMID: 19259128) Miltenberger-Miltenyi G … Janecke AR (European journal of human genetics : EJHG 2009) 3 23 41
- [Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan]. (PMID: 19062535) Khidiianova IM … Khusnutdinova EK (Genetika 2008) 3 23 41
ExternalLinks
Products for GJB1 Gene
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Sources for GJB1 Gene
- (1) GeneCards
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- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
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