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This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronize... See more...
Aliases for GJA1 Gene
Aliases for GJA1 Gene
- Gap Junction Protein Alpha 1 2 3 5
- Gap Junction Protein, Alpha 1, 43kDa 2 3
- Gap Junction 43 KDa Heart Protein 3 4
- Gap Junction Alpha-1 Protein 3 4
- Connexin-43 3 4
- CX43 2 3
- GJAL 3 4
- Gap Junction Protein, Alpha 1, 43kDa (Connexin 43) 2
- Oculodentodigital Dysplasia (Syndactyly Type III) 2
- Gap Junction Protein, Alpha-Like 2
- Connexin 43 2
- AVSD3 3
External Ids for GJA1 Gene
- HGNC: 4274
- Entrez Gene: 2697
- Ensembl: ENSG00000152661
- OMIM: 121014
- UniProtKB: P17302
Previous HGNC Symbols for GJA1 Gene
- ODDD
- GJAL
Previous GeneCards Identifiers for GJA1 Gene
- GC06P121527
- GC06P121714
- GC06P121737
- GC06P121798
- GC06P119340
- GC06P121756
Summaries for GJA1 Gene
-
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
GeneCards Summary for GJA1 Gene
GJA1 (Gap Junction Protein Alpha 1) is a Protein Coding gene. Diseases associated with GJA1 include Oculodentodigital Dysplasia and Syndactyly, Type Iii. 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 signaling receptor binding and protein domain specific binding. An important paralog of this gene is GJA3.
UniProtKB/Swiss-Prot Summary for GJA1 Gene
-
Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity).
-
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 GJA1 Gene
- HGNC(4274)
- Entrez Gene(2697)
- Ensembl(ENSG00000152661)
- OMIM(121014)
- UniProtKB(P17302)
- Open Targets Platform(ENSG00000152661)
- Monarch Initiative
- Search for GJA1 at DataMed
- Search for GJA1 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJA1 Gene
Genomics for GJA1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GJA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GJA1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GJA1
- Top Transcription factor binding sites by QIAGEN in the GJA1 gene promoter:
-
- Cart-1
- COMP1
- CUTL1
- MyoD
- PPAR-gamma1
- PPAR-gamma2
- Sp1
Genomic Locations for GJA1 Gene
Genomic Locations for GJA1 Gene
- chr6:121,435,595-121,449,727
- (GRCh38/hg38)
- Size:
- 14,133 bases
- Orientation:
- Plus strand
- chr6:121,756,745-121,770,873
- (GRCh37/hg19)
- Size:
- 14,129 bases
- Orientation:
- Plus strand
Genomic View for GJA1 Gene
Genes around GJA1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q22.31 by HGNC
- 6q22.31 by Entrez Gene
- 6q22.31 by Ensembl
GJA1 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 GJA1 Gene
Proteins for GJA1 Gene
-
Protein details for GJA1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P17302-CXA1_HUMAN
- Recommended name:
- Gap junction alpha-1 protein
- Protein Accession:
- P17302
- B2R5U9
- Q6FHU1
- Q9Y5I8
Protein attributes for GJA1 Gene
- Size:
- 382 amino acids
- Molecular mass:
- 43008 Da
- Quaternary structure:
-
- A connexon is composed of a hexamer of connexins. Interacts (via C-terminus) with TJP1 (By similarity). Interacts (via C-terminus) with SRC (via SH3 domain) (By similarity). Interacts (not ubiquitinated) with UBQLN4 (via UBA domain) (By similarity). Interacts with SGSM3 and CNST (By similarity). Interacts with RIC1/CIP150. Interacts with CSNK1D. Interacts with NOV (PubMed:15181016, PubMed:15213231). Interacts with TMEM65 (By similarity).
Protein Expression for GJA1 Gene
Post-translational modifications for GJA1 Gene
- Phosphorylated at Ser-368 by PRKCG; phosphorylation induces disassembly of gap junction plaques and inhibition of gap junction activity (By similarity). Phosphorylation at Ser-325, Ser-328 and Ser-330 by CK1 modulates gap junction assembly. Phosphorylation at Ser-368 by PRKCD triggers its internalization into small vesicles leading to proteasome-mediated degradation (By similarity).
- Sumoylated with SUMO1, SUMO2 and SUMO3, which may regulate the level of functional Cx43 gap junctions at the plasma membrane. May be desumoylated by SENP1 or SENP2.
- S-nitrosylation at Cys-271 is enriched at the muscle endothelial gap junction in arteries, it augments channel permeability and may regulate of smooth muscle cell to endothelial cell communication.
- Acetylated in the developing cortex; leading to delocalization from the cell membrane.
-
Ubiquitination at Lys9 and Lys303
- NX_P17302 (NX_P17302-1)
- Modification sites at PhosphoSitePlus
Other Protein References for GJA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences GJA1 / CX43 / Connexin 43 Antibody (LS-B9771) and GJA1 / CX43 / Connexin 43 Antibody (LS-B9770)
-
G Biosciences
- NSJ Bioreagents Cx43 Antibody Connexin 43
- Creative Diagnostics Anti-GJA1 polyclonal antibody
-
Creative Biolabs
-
BioLegend
- Purified anti-Connexin 43, 360-382 (849602)
- Purified anti-Connexin 43, 360-382 (849601)
- Purified anti-Connexin 43, 1-20 (849901)
- Purified anti-Connexin 43, 1-20 (849902)
- Purified anti-Connexin 43, 247-382 (850002)
- Purified anti-Connexin 43, 247-382 (850001)
- HRP anti-Connexin 43, 360-382 (849603)
- HRP anti-Connexin 43, 360-382 (849604)
- Biotin anti-Connexin 43, 360-382 (849606)
- Biotin anti-Connexin 43, 360-382 (849605)
-
Custom Antibody ServicesOriGene Antibodies for GJA1
- AB0015-200
- AB0016-200
- AB0016-500
- AP02508PU-N
- AP02508PU-S
- AP02752PU-N
- AP02752PU-S
- AP05931PU-N
- AP06070PU-N
- AP11568PU-N
- AP20299PU-N
- AP20736PU-N
- AP20856PU-N
- AP23305PU-N
- AP55786PU-N
- AP55786PU-S
- TA305614
- TA309099
- TA309100
- TA311735
- TA311737
- TA321075
- TA325990
- TA325991
- TA325992
- TA328600
- TA333205
- TA341124
- TA341132
- TA347981
- TA353207L
- TA354227
- TA354757
- Novus Biologicals Antibodies for GJA1
-
Abcam antibodies for GJA1
- Invitrogen Antibodies for GJA1 (AFLGC-GJA1)
- antibodies-online: Show 133 available GJA1 Antibodies ranked by validation data
- Compare Top GJA1 Antibodies
-
Recommended
- 217 WB Antibodies (anti-human)
- 17 IHC (p) Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 12 IHC Antibodies (anti-human)
- 10 FACS Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 175 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 156 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IHC Antibodies (anti-mouse)
- 4 IP Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
-
Boster Bio Antibodies for GJA1
-
Santa Cruz Biotechnology (SCBT) Antibodies for GJA1
- Sino Biological Antibodies for GJA1
Protein Products
-
OriGene Purified Proteins for GJA1
- Search Origene for MassSpec and Protein Over-expression Lysates for GJA1
- Origene Custom Protein Services for GJA1
-
Abcam proteins for GJA1
Assay Products
- Novus Biologicals ELISA Kits for GJA1
- antibodies-online: Show 72 available GJA1 Elisa Kits ranked by validation data
- Compare Top GJA1 Elisa Kits
-
Quality Products:
- ABIN1114371
- ABIN414959
- ABIN1569283
- ABIN5524559
- ABIN5669373
- ABIN5594594
- ABIN512467
- ABIN1380548
- ABIN1381042
- ABIN5653303
- ABIN1114373
- ABIN415736
- ABIN1569284
- ABIN5524560
- ABIN5670208
- ABIN5653304
- ABIN2543346
- ABIN2946657
- ABIN1114372
- ABIN416473
- ABIN1569285
- ABIN5524561
- ABIN5670890
- ABIN626846
- ABIN5594595
- ABIN5653305
- ABIN5594593
- ABIN990475
- ABIN4968310
- ABIN1134393
No data available for DME Specific Peptides for GJA1 Gene
Domains & Families for GJA1 Gene
Gene Families for GJA1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted membrane proteins
Protein Domains for GJA1 Gene
- InterPro:
- Blocks:
-
- Connexin, N terminal
- Gap junction alpha-1 protein (Cx43) signature
- Gap junction alpha-1 protein (Cx43), C terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for GJA1 Gene
- GenScript: Design optimal peptide antigens:
-
- Gap junction protein (B4DN50_HUMAN)
- Gap junction 43 kDa heart protein (CXA1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P17302- Family:
-
- Belongs to the connexin family. Alpha-type (group II) subfamily.
Function for GJA1 Gene
Molecular function for GJA1 Gene
- UniProtKB/Swiss-Prot Function:
- Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity).
- GENATLAS Biochemistry:
- gap junction protein,alpha 1,43kDa,connexin 43),expressed in the heart left ventricule,liver,peripheral nervous system,monomer of the connexon (six subunits),underexpressed in breast cancer cell (marker for detecting early oncogenesis in the breast)
Phenotypes From GWAS Catalog for GJA1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005243 | gap junction channel activity | IDA | 1696265 |
| GO:0005515 | protein binding | IPI | 9707407 |
| GO:0008013 | beta-catenin binding | IPI | 30992345 |
| GO:0015075 | ion transmembrane transporter activity | IDA | 1696265 |
| GO:0015562 | efflux transmembrane transporter activity | ISS | 26200696 |
Phenotypes for GJA1 Gene
- MGI mutant phenotypes for GJA1:
-
inferred from 26 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for GJA1:
Animal Models for GJA1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GJA1 - Select products 50% OFF >
- * GJA1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for GJA1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GJA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GJA1
miRNA for GJA1 Gene
- miRTarBase miRNAs that target GJA1
-
- mmu-miR-206-3p (MIRT001676)
- rno-miR-1-3p (MIRT001982)
- hsa-miR-1-3p (MIRT001984)
- mmu-miR-1a-3p (MIRT005409)
- hsa-miR-218-5p (MIRT006047)
- mmu-miR-425-5p (MIRT008508)
- mmu-miR-7b-5p (MIRT009116)
- mmu-miR-324-3p (MIRT010738)
- mmu-miR-181a-5p (MIRT014012)
- hsa-miR-206 (MIRT021080)
- hsa-miR-342-3p (MIRT043680)
- hsa-miR-23b-3p (MIRT046296)
- hsa-miR-221-3p (MIRT052943)
- hsa-miR-222-3p (MIRT052944)
- hsa-miR-20a-5p (MIRT053007)
- hsa-miR-130a-3p (MIRT053132)
- hsa-miR-651-5p (MIRT537147)
- hsa-miR-4266 (MIRT537148)
- hsa-miR-636 (MIRT537149)
- hsa-miR-648 (MIRT537150)
- hsa-miR-6888-5p (MIRT537151)
- hsa-miR-595 (MIRT537152)
- mmu-miR-222-3p (MIRT732487)
- gga-miR-23b-5p (MIRT733246)
- gga-miR-199-5p (MIRT733247)
- hsa-miR-23a-3p (MIRT733333)
- mmu-miR-19b-3p (MIRT733802)
- hsa-miR-23a-5p (MIRT734092)
- hsa-miR-1298-5p (MIRT734390)
- hsa-miR-200a-3p (MIRT734407)
- hsa-miR-186-5p (MIRT734409)
- hsa-miR-381-3p (MIRT734410)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GJA1
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Clone Products
- Applied Biological Materials (abm): Clones for GJA1 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GJA1
- Addgene plasmids for GJA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GJA1
Cell Line Products
-
Horizon Cell Lines for GJA1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GJA1 Gene
Localization for GJA1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GJA1 Gene
- Cell membrane. Multi-pass membrane protein. Cell junction, gap junction. Endoplasmic reticulum. Note=Localizes at the intercalated disk (ICD) in cardiomyocytes and the proper localization at ICD is dependent on TMEM65. {ECO:0000250 UniProtKB:P23242}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 4 |
| golgi apparatus | 4 |
| extracellular | 3 |
| cytoskeleton | 3 |
| endosome | 3 |
| lysosome | 3 |
| cytosol | 2 |
| peroxisome | 1 |
- Cell Junctions (3)
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005623 | cell | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IDA | 30599359 |
| GO:0005739 | mitochondrion | IDA | 15919068 |
Pathways & Interactions for GJA1 Gene
Pathways by source for GJA1 Gene
11 BioSystems pathways for GJA1 Gene
13 Reactome pathways for GJA1 Gene
1 PharmGKB pathway for GJA1 Gene
2 KEGG pathways for GJA1 Gene
2 GeneGo (Thomson Reuters) pathways for GJA1 Gene
- Cell adhesion Gap junctions
- Cell adhesion_Endothelial cell contacts by junctional mechanisms
4 R&D Systems pathways for GJA1 Gene
1 Qiagen pathway for GJA1 Gene
- Signaling in Gap Junctions
2 Cell Signaling Technology pathways for GJA1 Gene
Interacting Proteins for GJA1 Gene
Selected Interacting proteins:
P17302-CXA1_HUMAN
ENSP00000282561
for GJA1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for GJA1
SIGNOR curated interactions for GJA1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000132 | establishment of mitotic spindle orientation | IMP | 30992345 |
| GO:0001937 | negative regulation of endothelial cell proliferation | IEA | -- |
| GO:0002544 | chronic inflammatory response | IEA | -- |
| GO:0002931 | response to ischemia | IEA | -- |
| GO:0003104 | positive regulation of glomerular filtration | IEA | -- |
Drugs & Compounds for GJA1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Flufenamic acid | Approved | Pharma | Channel blocker, Inhibitor, Pore Blocker, Antagonist | Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 | 0 | |
| Carvedilol | Approved, Investigational | Pharma | Antagonist, Target, other | 199 | ||
| Carbenoxolone | Experimental | Pharma | Inhibitor | 0 | ||
| octanol | Investigational | Pharma | Inhibitor | 0 | ||
| Ca<sup>2+</sup> | Pharma | Activator, Agonist, Full agonist, Inhibitor, Antagonist, Channel blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 8-Hydroxycarvedilol |
|
(5) Tocris Compounds for GJA1 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 GJA1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Gap19 | 1507930-57-5 |
Transcripts for GJA1 Gene
mRNA/cDNA for GJA1 Gene
- 1 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000282561 3083 nts (view in UCSC)
- ENST00000647564 2208 nts (view in UCSC)
- ENST00000649003 2950 nts (view in UCSC)
- ENST00000650427 2908 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GJA1 - Select products 50% OFF >
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-
OriGene CRISPR knockouts for GJA1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GJA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GJA1
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for GJA1 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GJA1
- Addgene plasmids for GJA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GJA1
Relevant External Links for GJA1 Gene
- GeneLoc Exon Structure for
- GJA1
Expression for GJA1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Neural Crest Outflow Tract Cells Outflow Tract
- Cardiomyocytes Outer Curvature
- Ventricular Conductive Cells Fast Conducting System
- Proepicardial Progenitor cells Proepicardium
- Encapsulated Embryoid Bodies(Duan Y et. al. 2011)
-
Eye (Sensory Organs)
- Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
- Adult Corneal Basal Epithelial Cells Corneal Epithelium
- Limbal Superbasal Epithelial Cells Limbus Epithelium
-
Epithelial Cells
- Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
- Adult Corneal Basal Epithelial Cells Corneal Epithelium
- Limbal Superbasal Epithelial Cells Limbus Epithelium
-
Neural Crest (Gastrulation Derivatives)
- Cardiac Neural Crest Cells "Branchial Arch 3,4,6"
- Neural Crest Outflow Tract Cells Outflow Tract
-
Head Mesenchyme (Muscoskeletal System)
- Cardiac Neural Crest Cells "Branchial Arch 3,4,6"
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Proepicardial Progenitor cells Proepicardium
This gene is overexpressed in Frontal cortex (24.6), Spinal cord (19.8), and Testis (10.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GJA1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GJA1
SOURCE GeneReport for Unigene cluster for GJA1 Gene:
Hs.74471mRNA Expression by UniProt/SwissProt for GJA1 Gene:
P17302-CXA1_HUMAN
Tissue specificity:
Expressed in the heart and fetal cochlea.
Evidence on tissue expression from TISSUES for GJA1 Gene
- Nervous system(5)
- Heart(4.8)
- Muscle(4.8)
- Skin(3.7)
- Eye(3.7)
- Lung(3.4)
- Adrenal gland(3.2)
- Thyroid gland(3.1)
- Kidney(3)
- Bone(3)
- Intestine(2.8)
- Liver(2.8)
- Blood(2.7)
- Lymph node(2.6)
- Stomach(2.4)
- Spleen(2.4)
- Bone marrow(2.4)
- Pancreas(2.3)
- Gall bladder(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GJA1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- inner ear
- jaw
- lip
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- pharynx
- skull
- tooth
Thorax:
- aorta
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- kidney
- pancreas
Pelvis:
- pelvis
- ureter
- urethra
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for GJA1
-
OriGene qPCR primer pairs and template standards for GJA1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for GJA1 Gene
Orthologs for GJA1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GJA1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GJA1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GJA1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GJA1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GJA1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gja1 30 17 |
|
||
| Gja6 31 |
|
OneToOne | |||
| Rat (Rattus norvegicus) |
Mammalia | Gja1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | GJA1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GJA1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gja1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | gja1-A 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cx43 30 |
|
||
| cx40.8 31 |
|
OneToOne |
- Species where no ortholog for GJA1 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 GJA1 Gene
- ENSEMBL:
- Gene Tree for GJA1 (if available)
- TreeFam:
- Gene Tree for GJA1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GJA1: view image
Paralogs for GJA1 Gene
Paralogs for GJA1 Gene
(16) SIMAP similar genes for GJA1 Gene using alignment to 1 proteins:
- CXA1_HUMAN
Pseudogenes.org Pseudogenes for GJA1 Gene
Variants for GJA1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GJA1 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 16986 | Pathogenic: Oculodentodigital dysplasia | 121,447,000(+) | C/CTTT | INFRAME_INSERTION | |
| 16989 | Pathogenic: Oculodentodigital dysplasia | 121,447,624(+) | CTG/C | FRAMESHIFT_VARIANT | |
| 16994 | Pathogenic: Oculodentodigital dysplasia | 121,447,534(+) | CTA/C | FRAMESHIFT_VARIANT | |
| 645312 | Uncertain Significance: Oculodentodigital dysplasia, autosomal recessive | 121,447,743(+) | G/T | MISSENSE_VARIANT | |
| 651676 | Uncertain Significance: Oculodentodigital dysplasia, autosomal recessive | 121,447,212(+) | A/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3384624 | CNV | insertion | 20981092 |
| esv3890934 | CNV | gain | 25118596 |
| nsv969441 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.95;
19.71% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GJA1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJA1 Gene
Disorders for GJA1 Gene
(90) MalaCards diseases for GJA1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| oculodentodigital dysplasia |
|
|
| syndactyly, type iii |
|
|
| palmoplantar keratoderma and congenital alopecia 1 |
|
|
| erythrokeratodermia variabilis et progressiva 3 |
|
|
| oculodentodigital dysplasia, autosomal recessive |
|
Search GJA1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CXA1_HUMAN- Oculodentodigital dysplasia (ODDD) [MIM:164200]: A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. {ECO:0000269 PubMed:12457340, ECO:0000269 PubMed:14729836, ECO:0000269 PubMed:15108203, ECO:0000269 PubMed:15637728, ECO:0000269 PubMed:16219735, ECO:0000269 PubMed:16222672, ECO:0000269 PubMed:16378922, ECO:0000269 PubMed:16709485, ECO:0000269 PubMed:16813608, ECO:0000269 PubMed:16816024, ECO:0000269 PubMed:17509830, ECO:0000269 PubMed:18161618, ECO:0000269 PubMed:19338053, ECO:0000269 PubMed:21670345, ECO:0000269 PubMed:23550541, ECO:0000269 PubMed:24508941, ECO:0000269 PubMed:28258662}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Oculodentodigital dysplasia, autosomal recessive (ODDD-AR) [MIM:257850]: A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. {ECO:0000269 PubMed:16816024}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Syndactyly 3 (SDTY3) [MIM:186100]: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected. {ECO:0000269 PubMed:14729836}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
- Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550]: A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. {ECO:0000269 PubMed:11470490}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Hallermann-Streiff syndrome (HSS) [MIM:234100]: A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases. {ECO:0000269 PubMed:14974090}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Atrioventricular septal defect 3 (AVSD3) [MIM:600309]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. {ECO:0000269 PubMed:11470490}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Craniometaphyseal dysplasia, autosomal recessive (CMDR) [MIM:218400]: An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. {ECO:0000269 PubMed:23951358}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Erythrokeratodermia variabilis et progressiva 3 (EKVP3) [MIM:617525]: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. {ECO:0000269 PubMed:25398053}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Palmoplantar keratoderma and congenital alopecia 1 (PPKCA1) [MIM:104100]: A rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients. {ECO:0000269 PubMed:25168385}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for GJA1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for GJA1 Gene
Publications for GJA1 Gene
- Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. (PMID: 11741837) Liu XZ … Nance WE (Human molecular genetics 2001) 3 4 23 41
- The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. (PMID: 1646158) Fishman GI … Leinwand LA (Genomics 1991) 2 3 4 23
- Mutations of connexin43 in fetuses with congenital heart malformations. (PMID: 15978203) Chen P … Chang C (Chinese medical journal 2005) 3 4 41
- A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia. (PMID: 16219735) Vasconcellos JP … Costa VP (Archives of ophthalmology (Chicago, Ill. : 1960) 2005) 3 4 23
- Connexin43 interacts with NOV: a possible mechanism for negative regulation of cell growth in choriocarcinoma cells. (PMID: 15181016) Gellhaus A … Winterhager E (The Journal of biological chemistry 2004) 3 4 23
ExternalLinks
Products for GJA1 Gene
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- AB0015-200
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- High-throughput Antibody Production Service
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- antibodies-online: Show 133 available GJA1 Antibodies ranked by validation data
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- 217 WB Antibodies (anti-human)
- 17 IHC (p) Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
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- 10 FACS Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 175 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 156 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IHC Antibodies (anti-mouse)
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- Santa Cruz Biotechnology (SCBT) Antibodies for GJA1
- Search Santa Cruz Biotechnology (SCBT) for GJA1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GJA1
- Horizon Cell Lines for GJA1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GJA1
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- Boster Bio Antibodies for GJA1
Sources for GJA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
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- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
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- (104) diseasecard
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- (135) abm
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- (139) DataMed
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- (155) Biocompare
- (156) Mastermind
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- (159) GeneImprint
- (160) Synthego
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- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
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