Harmonizome 3.0

peripherin 2 (retinal degeneration, slow)

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]

peripherin

This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peripherin/rom-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peripherin/rom-1, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From GeneRIF Biological Term Annotations

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

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tetraspanin/Peripherin protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peripherin/Plasticin protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Peripheral nervous system_CT4_cervical dorsal root ganglion Peripherin neuron cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Peripheral nervous system_CT4_thoracic dorsal root ganglion Peripherin neuron cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Peripheral nervous system_CT4_lumbar dorsal root ganglion Peripherin neuron cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Peripheral nervous system_CT4_sacral dorsal root ganglion Peripherin neuron cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Peripheral nervous system_CT4_cervical dorsal root ganglion Peripherin neuron cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Peripheral nervous system_CT4_lumbar dorsal root ganglion Peripherin neuron cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Peripheral nervous system_CT4_sacral dorsal root ganglion Peripherin neuron cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Peripheral nervous system_CT4_thoracic dorsal root ganglion Peripherin neuron cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.