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whirlin

Summary

Gene Symbol

WHRN

Organism

Homo sapiens (human)

External Links

NCBI Gene

25861

PubChem

25861

Alliance of Genome Resources

HGNC:16361

JoGo

WHRN

TogoVar

WHRN

Annotation

Keyword

3D-structure
Alternative splicing
Cell projection
Cytoplasm
Hearing
Non-syndromic deafness
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Retinitis pigmentosa
Synapse
Usher syndrome

Proteins

Displaying **all 4** entries
UniProt	Protein Name
A0A8V8TQ31
B9EGE6
A0A669KBJ1
Q9P202	Autosomal recessive deafness type 31 protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 14 in total

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GO Term	Evidence Code	PMID
retina homeostasis	ISS
retina homeostasis	IMP	17171570
sensory perception of sound	IMP	17171570
sensory perception of sound	IBA
positive regulation of gene expression	IEA

GO Hierarchy

biological process

cellular process [inference]

cellular developmental process [inference]

cell differentiation [inference]

neuron differentiation [inference]

mechanoreceptor differentiation [inference]

inner ear receptor cell differentiation

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection development [inference]

inner ear receptor cell stereocilium organization

auditory receptor cell stereocilium organization

cell junction organization [inference]

cell junction maintenance [inference]

cell-cell junction maintenance [inference]

paranodal junction maintenance

cell-cell junction organization [inference]

cell-cell junction maintenance [inference]

paranodal junction maintenance

cellular component maintenance [inference]

cell junction maintenance [inference]

cell-cell junction maintenance [inference]

paranodal junction maintenance

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of light stimulus

sensory perception of mechanical stimulus [inference]

sensory perception of sound

detection of mechanical stimulus involved in sensory perception of sound

multicellular organismal-level homeostasis [inference]

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

retina homeostasis

developmental process [inference]

anatomical structure formation involved in morphogenesis [inference]

cerebellar Purkinje cell layer formation

cellular developmental process [inference]

cell differentiation [inference]

neuron differentiation [inference]

mechanoreceptor differentiation [inference]

inner ear receptor cell differentiation

homeostatic process [inference]

multicellular organismal-level homeostasis [inference]

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

retina homeostasis

response to stimulus [inference]

response to external stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

response to mechanical stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

response to abiotic stimulus [inference]

detection of abiotic stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

response to mechanical stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

detection of stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

detection of abiotic stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

detection of stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization

establishment of localization [inference]

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

positive regulation of gene expression

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of gene expression

Displaying entries **1 - 5** of 18 in total

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GO Term	Evidence Code	PMID
photoreceptor inner segment	ISS
stereocilia ankle link	ISS
stereocilia ankle link complex	ISS
stereocilia ankle link complex	IBA
cytoplasm	IDA	16434480

GO Hierarchy

cellular component

protein-containing complex [inference]

cellular anatomical entity [inference]

photoreceptor inner segment

stereocilia coupling link [inference]

stereocilia ankle link

cytoplasm

microtubule organizing center [inference]

ciliary basal body

membrane [inference]

plasma membrane

plasma membrane region [inference]

periciliary membrane compartment

cell junction [inference]

synapse

site of polarized growth [inference]

growth cone

stereocilium tip

ciliary transition zone [inference]

photoreceptor connecting cilium

cell projection [inference]

plasma membrane bounded cell projection [inference]

cilium

neuron projection [inference]

stereocilium

actin-based cell projection [inference]

stereocilium

organelle [inference]

membrane-bounded organelle [inference]

cilium

cell body [inference]

neuronal cell body

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

actin filament

Displaying **all 2** entries
GO Term	Evidence Code	PMID
protein binding	IPI	16434480 17584769 23023331 32296183
identical protein binding	IEA

GO Hierarchy

molecular function

binding [inference]

protein binding

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

lin-7

Functional Category

E: Amino acid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying **all 2** entries
InterPro
PDZ domain
PDZ superfamily

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0110490	autosomal recessive nonsyndromic deafness 31	Alliance of Genome Resources
DOID:0110840	Usher syndrome type 2D	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss	Alliance of Genome Resources