Aliases for GJB1 Gene
Aliases for GJB1 Gene
- Gap Junction Protein Beta 1 2 3 5
- Gap Junction Protein, Beta 1, 32kDa 2 3
- GAP Junction 28 KDa Liver Protein 3 4
- Connexin-32 3 4
- CX32 3 4
- Gap Junction Protein, Beta 1, 32kDa (Connexin 32, Charcot-Marie-Tooth Neuropathy, X-Linked) 2
- Gap Junction Protein, Beta 1, 32kD (Connexin 32, Charcot-Marie-Tooth Neuropathy, X-Linked) 2
- Gap Junction Protein, Beta 1, 32kDa (Connexin 32) 2
External Ids for GJB1 Gene
- HGNC: 4283
- Entrez Gene: 2705
- Ensembl: ENSG00000169562
- OMIM: 304040
- UniProtKB: P08034
Previous HGNC Symbols for GJB1 Gene
- CMTX1
- CMTX
Previous GeneCards Identifiers for GJB1 Gene
- GC0XP066608
- GC0XP067912
- GC0XP068668
- GC0XP069301
- GC0XP070218
- GC0XP070351
- GC0XP070435
- GC0XP064252
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 X-Linked Charcot-Marie-Tooth Disease. Among its related pathways are Development Slit-Robo signaling and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJB2.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for GJB1 at DataMed
- Search for GJB1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJB1 Gene
Genomics for GJB1 Gene
GeneHancer (GH) Regulatory Elements for GJB1 Gene
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 | 1.5 | EPDnew ENCODE dbSUPER | 650.7 | +0.8 | 765 | 4.1 | FOXA2 ZFP64 ZSCAN4 ARID4B ZNF48 RAD21 RARA YY1 ZNF121 EGR1 | GJB1 ZMYM3 GC0XP071223 | |
| GH0XJ071223 | Promoter | 0.5 | EPDnew | 650.4 | +8.0 | 8011 | 0.1 | GC0XP071223 GJB1 ZMYM3 GC0XM071249 PIR53282 | ||
| GH0XJ071227 | Enhancer | 1.1 | ENCODE dbSUPER | 11 | +12.8 | 12782 | 1.8 | ELF3 FOXA2 MLX ARID4B RAD21 RARA ETS1 ZNF614 EGR1 SMARCC2 | ZMYM3 GJB1 GC0XP071223 GC0XM071249 PIR53282 | |
| GH0XJ071224 | Enhancer | 0.8 | ENCODE dbSUPER | 8.1 | +10.3 | 10345 | 2.3 | GATAD2A FOXA2 SAP130 FOXA3 RARA PCBP2 HNF1A CEBPA BCL6 NR2F6 | NONO ZMYM3 MED12 OGT LOC100420758 TAF1 ENSG00000229601 GJB1 GC0XP071223 GC0XM071249 | |
| GH0XJ071207 | Enhancer | 0.6 | Ensembl | 5 | -7.4 | -7394 | 0.4 | SMARCE1 MCM3 SP3 YY2 ZSCAN4 KLF14 ZFHX2 EGR1 KDM1A TRIM24 | MED12 LOC392489 TAF1 NONO LOC100420758 ARR3 P2RY4 OGT RPS23P8 ENSG00000229601 |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GJB1 gene promoter:
-
- p53
- SEF-1 (1)
- FOXL1
- MRF-2
- CP1C
- CP1A
Regulatory Element Products
Genomic Locations for GJB1 Gene
Genomic Locations for GJB1 Gene
- chrX:71,215,194-71,225,516
- (GRCh38/hg38)
- Size:
- 10,323 bases
- Orientation:
- Plus strand
- chrX:70,435,044-70,445,366
- (GRCh37/hg19)
- 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 Entrez Gene
- Xq13.1 by HGNC
- 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for GJB1
- Novus Biologicals Antibodies for GJB1
-
Abcam antibodies for GJB1
- Invitrogen Antibodies for GJB1 (AFLGC-GJB1)
- antibodies-online: Search results for 156 available GJB1 Antibodies ranked by validation data
- Compare Top GJB1 Antibodies
-
Recommended
- 100 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 9 FACS Antibodies (anti-mouse)
- 3 IHC (fro) Antibodies (anti-mouse)
- 2 IP Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 101 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 9 FACS Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 3 IHC (fro) Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 83 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 6 FACS Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 2 IHC (fro) Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- GeneTex GJB1 Antibody for GJB1
-
Santa Cruz Biotechnology (SCBT) Antibodies for GJB1
Protein Products
-
OriGene Purified Proteins for GJB1
- Search Origene for MassSpec and Protein Over-expression Lysates for GJB1
- Origene Custom Protein Services for GJB1
- Search GeneTex for Proteins for GJB1
-
Abcam proteins for GJB1
Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for GJB1 Gene
- GenScript: Design optimal peptide antigens:
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:0042803 | protein homodimerization activity | IEA | -- |
Phenotypes for GJB1 Gene
- MGI mutant phenotypes for GJB1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GJB1:
-
- Decreased POU5F1-GFP protein expression
- Effect on mitosis
- Dynamic nuclei (hole, folded or small irregular)
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- Increased cell migration
- Decreased cell migration
- no effect
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Mildly decreased CFP-tsO45G cell surface transport
Animal Models for GJB1 Gene
- MGI Knock Outs for GJB1:
-
- Gjb1 Gjb1<tm1Kwi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for GJB1
-
CRISPR Products
-
OriGene CRISPR knockouts for GJB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GJB1
- genomics-online: gRNA clones - Search results for available GJB1 gene related products
- Applied Biological Materials CRISPR for GJB1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GJB1
- GenScript: Design CRISPR guide RNA sequences 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available GJB1 gene related products
Clone Products
- 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
- genomics-online: cdna clones - Search results for available GJB1 gene related products
- orf clones - Search results for available GJB1 gene related products
- Applied Biological Materials Clones for GJB1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for GJB1 (Connexin 32/GJB1)
Cell Line Products
-
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 |
| endoplasmic reticulum | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| golgi apparatus | 2 |
| mitochondrion | 1 |
| nucleus | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005921 | gap junction | IEA | -- |
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 | ||
| 5 | Development Slit-Robo signaling | ||
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
1 Qiagen pathway for GJB1 Gene
Interacting Proteins for GJB1 Gene
GPS-Prot Interaction Network for GJB1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007154 | cell communication | IEA | -- |
| GO:0007267 | cell-cell signaling | TAS | 8266101 |
| GO:0007399 | nervous system development | TAS | 8266101 |
| GO:0015868 | purine ribonucleotide transport | IEA | -- |
| GO:0016264 | gap junction assembly | TAS | -- |
No data available for SIGNOR curated interactions for GJB1 Gene
Drugs & Compounds for GJB1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Carbenoxolone | Experimental | Pharma | Inhibitor | 0 | ||
| Flufenamic Acid | Experimental | Pharma | Channel blocker, Inhibitor, Pore Blocker, Antagonist | Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 | 1 | |
| octanol | Investigational | Pharma | Inhibitor | 0 | ||
| Ca<sup>2+</sup> | Pharma | Activator, Full agonist, Agonist, Inhibitor, Antagonist, Channel blocker | 0 | |||
| GAP-134 | Pharma | Gap junction modifier | 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 |
Drug Products
Transcripts for GJB1 Gene
mRNA/cDNA for GJB1 Gene
- (3) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (133) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000374029 1587 bps (uc064zue.1)
- ENST00000647424 1603 bps
- ENST00000374022 1904 bps (uc004dzf.4)
- ENST00000646835 1860 bps
- ENST00000447581 484 bps (uc064zuf.1)
Unigene Clusters for GJB1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for GJB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GJB1
- genomics-online: gRNA clones - Search results for available GJB1 gene related products
- Applied Biological Materials CRISPR for GJB1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GJB1
- GenScript: Design CRISPR guide RNA sequences for GJB1
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available GJB1 gene related products
Clone Products
- 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
- genomics-online: cdna clones - Search results for available GJB1 gene related products
- orf clones - Search results for available GJB1 gene related products
- Applied Biological Materials Clones for GJB1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for GJB1 (Connexin 32/GJB1)
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||
| SP2: | - | - | |||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||
| SP4: | - | - |
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
NURSA nuclear receptor signaling pathways regulating expression of GJB1 Gene:
GJB1SOURCE GeneReport for Unigene cluster for GJB1 Gene:
Hs.333303Evidence on tissue expression from TISSUES for GJB1 Gene
- Nervous system(4.9)
- Liver(4.8)
- Skin(4.7)
- Kidney(2.7)
- Pancreas(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
-
OriGene qPCR primer pairs for GJB1
-
OriGene qPCR primer pairs and template standards for GJB1
- genomics-online: primer clones - Search results for available GJB1 gene related products
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GJB1 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GJB1 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Gjb1 33 |
|
||
| dog (Canis familiaris) |
Mammalia | GJB1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gjb1 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GJB1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GJB1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GJB1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gjb1 33 |
|
||
| Str.6225 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | gjb1-A-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cx27.5 34 33 |
|
OneToMany | |
| cx31.7 34 33 |
|
OneToMany |
- Species where no ortholog for GJB1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
Variants for GJB1 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894810 | pathogenic, X-linked hereditary motor and sensory neuropathy, not provided, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] | 71,224,131(+) | C/T | coding_sequence_variant, missense_variant | |
| rs104894811 | pathogenic, X-linked hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] | 71,224,221(+) | C/T | coding_sequence_variant, missense_variant | |
| rs104894812 | pathogenic, X-linked hereditary motor and sensory neuropathy, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] | 71,224,122(+) | G/A | coding_sequence_variant, missense_variant | |
| rs104894813 | pathogenic, X-linked hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] | 71,224,104(+) | T/C | coding_sequence_variant, missense_variant | |
| rs104894814 | pathogenic, X-linked hereditary motor and sensory neuropathy, not provided, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] | 71,224,365(+) | C/G/T | coding_sequence_variant, missense_variant, stop_gained |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJB1 Gene
Disorders for GJB1 Gene
(38) MalaCards diseases for GJB1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, x-linked dominant, 1 |
|
|
| x-linked charcot-marie-tooth disease |
|
|
| hypertrophic neuropathy of dejerine-sottas |
|
|
| spinocerebellar ataxia, x-linked 1 |
|
|
| neuropathy |
|
|
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 mutations 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 of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for GJB1 Gene
Publications for GJB1 Gene
- 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 22 44 58
- Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. (PMID: 18379723) Mandich P … Bellone E (Journal of human genetics 2008) 3 22 44 58
- [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 22 44 58
- Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. (PMID: 17200131) Kennerson ML … Nicholson GA (Clinical chemistry 2007) 3 22 44 58
- X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene. (PMID: 15468313) Vondracek P … Fajkusova L (Muscle & nerve 2005) 3 4 22 58
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Sources for GJB1 Gene
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