WHRN Gene Summary [Human]
This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Details
| Type | Protein Coding |
| Official Symbol | WHRN |
| Official Name | whirlin [Source:HGNC Symbol;Acc:HGNC:16361] |
| Ensembl ID | ENSG00000095397 |
| Bio databases IDs | |
| Aliases | whirlin |
| Synonyms | 1110035G07Rik, C430046P22RIK, CIP98, DFNB31, PDZD7B, USH2D, WHIRLIN, WI |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human WHRN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PDZ domain ligand
- Domain present in PSD-95, Dlg, and ZO-1/2
- harmonin_N_like
- canonical PDZ domain
- protein domain specific binding
- protein binding
- PDZ domain
- proline rich domain
- identical protein binding
- carboxylate binding loop
- beta strand or sheet
- PDZ binding motif
- cpPDZ_Deg_HtrA-like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- colon epithelial cancer
- epithelial cancer
- autosomal recessive deafness type 31
- Usher syndrome
- Usher syndrome type 2D
- bipolar disorder
- transverse colon adenocarcinoma
- colon transversum cancer
- hearing loss
role in cell
- firing
- organization
- maintenance
- formation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- stereocilia tip
- Cytoplasm
- presynaptic regions
- cilia
- cell periphery
- perinuclear region
- postsynaptic region
- cellular membrane
- focal adhesions
- basal bodies
- actin filaments
- cytosol
- connecting cilia
- stereocilia
- neurites
- nerve ending
- photoreceptor inner segments
- stereocilia bundles
- filopodial tip
- perikaryon
- axons
- dendritic shafts
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human WHRN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- auditory receptor cell stereocilium organization
- establishment of protein localization
- sensory perception of sound
- inner ear receptor stereocilium organization
- retina homeostasis
- inner ear receptor cell differentiation
- positive regulation of gene expression
- establishment of localization in cell
- sensory perception of light stimulus
- cerebellar Purkinje cell layer formation
- detection of mechanical stimulus involved in sensory perception of sound
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- cilium basal body
- stereocilia ankle link
- stereocilia ankle link complex
- synapse
- neuronal cell body
- actin filament
- plasma membrane
- growth cone
- cytoplasm
- cilium
- stereocilium
- photoreceptor inner segment
- stereocilium bundle tip
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding