Harmonizome 3.0

junctional sarcoplasmic reticulum protein 1

The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]

junctional adhesion molecule 2

This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]

junctional adhesion molecule 3

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]

junctional cadherin 5 associated

This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution. [provided by RefSeq, Mar 2017]

junctional cadherin complex regulator

Predicted to be involved in axoneme assembly and brain development. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; motile cilium assembly; and regulation of establishment of planar polarity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

From HPO Gene-Disease Associations

genes associated with the junctional split phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Junctional Split in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Junctional epidermolysis bullosa gravis of Herlitz phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa, junctional, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Adult junctional epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the junctional sarcoplasmic reticulum membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the junctional membrane complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the junctional sarcoplasmic reticulum membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the junctional membrane complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis Bullosa, Junctional from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis Bullosa, Junctional, Non-Herlitz Type from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tachycardia, Ectopic Junctional from the curated CTD Gene-Disease Associations dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease junctional epidermolysis bullosa from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease junctional epidermolysis bullosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term junctional in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GO Cellular Component Annotations 2015

proteins localized to the junctional sarcoplasmic reticulum membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From GO Cellular Component Annotations 2015

proteins localized to the junctional membrane complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Tachycardia, Ectopic Junctional phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Junctional protein associated with coronary artery disease protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Junctional sarcoplasmic reticulum protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Junctional adhesion molecule-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal placenta junctional zone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the epidermolysis bullosa, junctional, non-herlitz type phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the epidermolysis bullosa, junctional, with pyloric atresia phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the epidermolysis bullosa, junctional, with pyloric stenosis phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the epidermolysis bullosa, junctional, herlitz type phenotype from the curated OMIM Gene-Disease Associations dataset.

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue junctional zone in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult Junctional Epidermolysis Bullosa (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Junctional Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Junctional Epidermolysis Bullosa Mitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Late-Onset Junctional Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From GO Cellular Component Annotations 2023

proteins localized to the junctional sarcoplasmic reticulum membrane cellular component from the curated GO Cellular Component Annotations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal junctional epithelium morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal placenta junctional zone morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the placenta junctional zone necrosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the detached junctional epithelium phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From GO Cellular Component Annotations 2025

proteins localized to the junctional sarcoplasmic reticulum membrane cellular component from the curated GO Cellular Component Annotations 2025 dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Junctional epidermolysis bullosa from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Junctional epidermolysis bullosa with pyloric atresia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Junctional epidermolysis bullosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Junctional epidermolysis bullosa with pyloric atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Junctional epidermolysis bullosa non-Herlitz type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Junctional epidermolysis bullosa Herlitz type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Junctional zone in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Junctional sarcoplasmic reticulum membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Junctional membrane complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Junctional membrane complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Junctional sarcoplasmic reticulum membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Junctional epidermolysis bullosa gravis of Herlitz phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Junctional epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Late-onset junctional epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Split-hand/foot malformation 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Split-hand/foot malformation 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Split-hand/foot malformation 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Split-hand/foot malformation 1 with sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split hand foot deformity 1 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation 6 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation 4 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation 5 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPLIT-HAND/FOOT MALFORMATION 2 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term split in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Sensory disturbances after bilateral sagittal split ramus osteotomy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From HPO Gene-Disease Associations

genes associated with the split foot phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the split nail phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the split hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the TUP1-like enhancer of split protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FMN-binding split barrel protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the split cervical atlas phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the split notochord phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the split sternal manubrium phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the split vertebrae phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the split cervical axis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the split sternum phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the split xiphoid process phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the split hand/foot malformation 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the split hand/foot malformation 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the ?split-hand/foot malformation 1 with sensorineural hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation 3, gene duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation with long bone deficiency 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation with long bone deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation with long bone deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Split Foot in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Split-Hand/Foot Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Split-Hand-Foot Malformation With Long Bone Deficiency 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Split-Hand-Foot Malformation With Sensorineural Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Split Ends in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Split-Foot Malformation With Mesoaxial Polydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Longitudinal Split Nail in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the split xiphoid process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the split sternum phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the split sternal manubrium phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the split notochord phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the split cervical atlas phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the split cervical axis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the split vertebrae phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Split hand-foot malformation 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Split hand-foot malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Split hand-foot malformation 1 with sensorineural hearing loss in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Split hand-foot malformation 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Split hand-foot malformation 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Split hand-foot malformation 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Split hand-foot malformation 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Split septin rings cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Split hand-foot malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Split-foot malformation-mesoaxial polydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Sensory disturbances after bilateral sagittal split ramus osteotomy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From DGIdb Drug Targets 2026

interacting proteins for the INFLUENZA A VIRUS, SPLIT VIRION drug from theDGIdb Drug Targets 2026 dataset.