Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q9P202 (WHRN_HUMAN)

Entry version 169 (16 Oct 2019)
Sequence version 4 (28 Mar 2018)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Whirlin

Gene

WHRN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processHearing

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
WhirlinCurated
Alternative name(s):
Autosomal recessive deafness type 31 proteinCurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:WHRNImported
Synonyms:DFNB311 Publication, KIAA1526
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:16361 WHRN

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607928 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9P202

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 31 (DFNB31)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIM
Usher syndrome 2D (USH2D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUSH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
Related information in OMIM

Keywords - Diseasei

Deafness, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		25861

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		WHRN

MalaCards human disease database

More...MalaCardsi		WHRN
MIMi607084 phenotype
611383 phenotype

Open Targets

More...OpenTargetsi		ENSG00000095397

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
231178 Usher syndrome type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27297

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9P202

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		WHRN

Domain mapping of disease mutations (DMDM)

More...DMDMi		296453079

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000659681 – 907WhirlinAdd BLAST907

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei685PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9P202

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9P202

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9P202

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9P202

PeptideAtlas

More...PeptideAtlasi		Q9P202

PRoteomics IDEntifications database

More...PRIDEi		Q9P202

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		83692 [Q9P202-1]
83693 [Q9P202-2]
83694 [Q9P202-3]
83695 [Q9P202-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9P202

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9P202

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9P202

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000095397 Expressed in 168 organ(s), highest expression level in right adrenal gland

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9P202 baseline and differential

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB033194
HPA002480

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms homooligomers (By similarity).

Interacts (via C-terminal PDZ domain) with MYO15A; this interaction is necessary for localization of WHRN to stereocilia tips (By similarity).

Interacts (via C-terminal PDZ domain) with MPP1/p55 (PubMed:17584769).

Interacts with LRRC4C/NGL1.

Interacts with MYO7A.

Interacts with RPGR.

Interacts with EPS8 (By similarity).

Interacts with CASK (By similarity).

Interacts with CIB2 (PubMed:23023331).

Component of USH2 complex, composed of ADGRV1, PDZD7, USH2A and WHRN.

Interacts (via PDZ domains) with PDZD7; the interaction is direct.

Interacts (via N-terminal PDZ domain) with USH2A (via cytoplasmic region) (PubMed:16434480).

Interacts with ADGRV1/MASS1 (via cytoplasmic region) (PubMed:16434480).

By similarity3 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		117381, 11 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9P202

Protein interaction database and analysis system

More...IntActi		Q9P202, 17 interactors

Molecular INTeraction database

More...MINTi		Q9P202

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000354623

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1907
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9P202

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9P202

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini140 – 223PDZ 1PROSITE-ProRule annotationAdd BLAST84
Domaini279 – 361PDZ 2PROSITE-ProRule annotationAdd BLAST83
Domaini816 – 899PDZ 3PROSITE-ProRule annotationAdd BLAST84

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi9 – 31Ala/Gly/Ser-richAdd BLAST23
Compositional biasi581 – 712Pro-richAdd BLAST132

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410ITAG Eukaryota
ENOG410XTF7 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183002

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9P202

KEGG Orthology (KO)

More...KOi		K21879

Identification of Orthologs from Complete Genome Data

More...OMAi		QREGDSR

Database of Orthologous Groups

More...OrthoDBi		168224at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9P202

TreeFam database of animal gene trees

More...TreeFami		TF325033

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001478 PDZ
IPR036034 PDZ_sf
IPR033028 Whirlin

The PANTHER Classification System

More...PANTHERi		PTHR23116:SF37 PTHR23116:SF37, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00595 PDZ, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00228 PDZ, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50156 SSF50156, 3 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50106 PDZ, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9P202-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MNAPLDGLSV SSSSTGSLGS AAGAGGGGGA GLRLLSANVR QLHQALTALL 
        60         70         80         90        100
SEAEREQFTH CLNAYHARRN VFDLVRTLRV LLDSPVKRRL LPMLRLVIPR 
       110        120        130        140        150
SDQLLFDQYT AEGLYLPATT PYRQPAWGGP DSAGPGEVRL VSLRRAKAHE 
       160        170        180        190        200
GLGFSIRGGS EHGVGIYVSL VEPGSLAEKE GLRVGDQILR VNDKSLARVT 
       210        220        230        240        250
HAEAVKALKG SKKLVLSVYS AGRIPGGYVT NHIYTWVDPQ GRSISPPSGL 
       260        270        280        290        300
PQPHGGALRQ QEGDRRSTLH LLQGGDEKKV NLVLGDGRSL GLTIRGGAEY 
       310        320        330        340        350
GLGIYITGVD PGSEAEGSGL KVGDQILEVN GRSFLNILHD EAVRLLKSSR 
       360        370        380        390        400
HLILTVKDVG RLPHARTTVD ETKWIASSRI RETMANSAGF LGDLTTEGIN 
       410        420        430        440        450
KPGFYKGPAG SQVTLSSLGN QTRVLLEEQA RHLLNEQEHA TMAYYLDEYR 
       460        470        480        490        500
GGSVSVEALV MALFKLLNTH AKFSLLSEVR GTISPQDLER FDHLVLRREI 
       510        520        530        540        550
ESMKARQPPG PGAGDTYSMV SYSDTGSSTG SHGTSTTVSS ARNTLDLEET 
       560        570        580        590        600
GEAVQGNINA LPDVSVDDVR STSQGLSSFK PLPRPPPLAQ GNDLPLGQPR 
       610        620        630        640        650
KLGREDLQPP SSMPSCSGTV FSAPQNRSPP AGTAPTPGTS SAQDLPSSPI 
       660        670        680        690        700
YASVSPANPS SKRPLDAHLA LVNQHPIGPF PRVQSPPHLK SPSAEATVAG 
       710        720        730        740        750
GCLLPPSPSG HPDQTGTNQH FVMVEVHRPD SEPDVNEVRA LPQTRTASTL 
       760        770        780        790        800
SQLSDSGQTL SEDSGVDAGE AEASAPGRGR QSVSTKSRSS KELPRNERPT 
       810        820        830        840        850
DGANKPPGLL EPTSTLVRVK KSAATLGIAI EGGANTRQPL PRIVTIQRGG 
       860        870        880        890        900
SAHNCGQLKV GHVILEVNGL TLRGKEHREA ARIIAEAFKT KDRDYIDFLV 

TEFNVML
Length:907
Mass (Da):96,558
Last modified:March 28, 2018 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i78ABE7A305132B89
GO
Isoform 2 (identifier: Q9P202-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     281-345: NLVLGDGRSL...NILHDEAVRL → SGVGKGGQPL...DLCSVCYNTG
     346-907: Missing.

Note: May be due to an intron retention.
Show »
Length:345
Mass (Da):37,110
Checksum:i389719C312FA0D37
GO
Isoform 3 (identifier: Q9P202-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-383: Missing.

Note: No experimental confirmation available.
Show »
Length:524
Mass (Da):55,572
Checksum:i698C9BE6632647AC
GO
Isoform 4 (identifier: Q9P202-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-351: Missing.
     352-389: LILTVKDVGR...IRETMANSAG → MHGSLEALLF...QLEMCVFPHR

Show »
Length:556
Mass (Da):59,251
Checksum:iE4744415B4584CBF
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA96050 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti225P → S in AK056190 (PubMed:14702039).Curated1
Sequence conflicti716G → V in BAB14275 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_036684364H → R. Corresponds to variant dbSNP:rs10817610EnsemblClinVar.1
Natural variantiVAR_036685423R → P. Corresponds to variant dbSNP:rs35003670Ensembl.1
Natural variantiVAR_020593440A → T. Corresponds to variant dbSNP:rs4978584EnsemblClinVar.1
Natural variantiVAR_057029443A → S. Corresponds to variant dbSNP:rs11539662Ensembl.1
Natural variantiVAR_036686562P → A. Corresponds to variant dbSNP:rs12339210EnsemblClinVar.1
Natural variantiVAR_036687613M → T2 PublicationsCorresponds to variant dbSNP:rs942519EnsemblClinVar.1
Natural variantiVAR_036688752Q → H. Corresponds to variant dbSNP:rs6478078EnsemblClinVar.1
Natural variantiVAR_020594783V → A2 PublicationsCorresponds to variant dbSNP:rs2274159EnsemblClinVar.1
Natural variantiVAR_020595796N → K. Corresponds to variant dbSNP:rs2274158EnsemblClinVar.1
Natural variantiVAR_020596813T → M. Corresponds to variant dbSNP:rs942519EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0122161 – 383Missing in isoform 3. 1 PublicationAdd BLAST383
Alternative sequenceiVSP_0122171 – 351Missing in isoform 4. 1 PublicationAdd BLAST351
Alternative sequenceiVSP_012218281 – 345NLVLG…EAVRL → SGVGKGGQPLRHRILPPNPE QQSCLEAARRGWFCPGSVFP QVCTEGWCFFFAFLFDLCSV CYNTG in isoform 2. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_012219346 – 907Missing in isoform 2. 1 PublicationAdd BLAST562
Alternative sequenceiVSP_012220352 – 389LILTV…ANSAG → MHGSLEALLFLPQVTLSLAH AHLICSNAQLEMCVFPHR in isoform 4. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB040959 mRNA Translation: BAA96050.1 Different initiation.
AK022854 mRNA Translation: BAB14275.1
AK056190 mRNA No translation available.
AL110228 mRNA Translation: CAB53685.2
AL138895 Genomic DNA No translation available.
KF459656 Genomic DNA No translation available.
KF459658 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87422.1
CH471090 Genomic DNA Translation: EAW87423.1
BC142614 mRNA Translation: AAI42615.1
BC142684 mRNA Translation: AAI42685.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43870.1 [Q9P202-3]
CCDS6806.1 [Q9P202-1]
CCDS87678.1 [Q9P202-4]

Protein sequence database of the Protein Information Resource

More...PIRi		T14765

NCBI Reference Sequences

More...RefSeqi		NP_001077354.2, NM_001083885.2 [Q9P202-3]
NP_001166896.1, NM_001173425.1
NP_056219.3, NM_015404.3 [Q9P202-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000265134; ENSP00000265134; ENSG00000095397 [Q9P202-3]
ENST00000362057; ENSP00000354623; ENSG00000095397 [Q9P202-1]
ENST00000374057; ENSP00000363170; ENSG00000095397 [Q9P202-2]
ENST00000374059; ENSP00000363172; ENSG00000095397 [Q9P202-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		25861

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:25861

UCSC genome browser

More...UCSCi		uc004biy.5 human [Q9P202-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Hereditary hearing loss homepage

Gene page

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040959 mRNA Translation: BAA96050.1 Different initiation.
AK022854 mRNA Translation: BAB14275.1
AK056190 mRNA No translation available.
AL110228 mRNA Translation: CAB53685.2
AL138895 Genomic DNA No translation available.
KF459656 Genomic DNA No translation available.
KF459658 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87422.1
CH471090 Genomic DNA Translation: EAW87423.1
BC142614 mRNA Translation: AAI42615.1
BC142684 mRNA Translation: AAI42685.1
CCDSiCCDS43870.1 [Q9P202-3]
CCDS6806.1 [Q9P202-1]
CCDS87678.1 [Q9P202-4]
PIRiT14765
RefSeqiNP_001077354.2, NM_001083885.2 [Q9P202-3]
NP_001166896.1, NM_001173425.1
NP_056219.3, NM_015404.3 [Q9P202-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UEZNMR-A137-224[»]
1UF1NMR-A263-378[»]
1UFXNMR-A815-904[»]
SMRiQ9P202
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi117381, 11 interactors
CORUMiQ9P202
IntActiQ9P202, 17 interactors
MINTiQ9P202
STRINGi9606.ENSP00000354623

PTM databases

iPTMnetiQ9P202
PhosphoSitePlusiQ9P202
SwissPalmiQ9P202

Polymorphism and mutation databases

BioMutaiWHRN
DMDMi296453079

Proteomic databases

EPDiQ9P202
jPOSTiQ9P202
MassIVEiQ9P202
PaxDbiQ9P202
PeptideAtlasiQ9P202
PRIDEiQ9P202
ProteomicsDBi83692 [Q9P202-1]
83693 [Q9P202-2]
83694 [Q9P202-3]
83695 [Q9P202-4]

Genome annotation databases

EnsembliENST00000265134; ENSP00000265134; ENSG00000095397 [Q9P202-3]
ENST00000362057; ENSP00000354623; ENSG00000095397 [Q9P202-1]
ENST00000374057; ENSP00000363170; ENSG00000095397 [Q9P202-2]
ENST00000374059; ENSP00000363172; ENSG00000095397 [Q9P202-4]
GeneIDi25861
KEGGihsa:25861
UCSCiuc004biy.5 human [Q9P202-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		25861
DisGeNETi25861

GeneCards: human genes, protein and diseases

More...GeneCardsi		WHRN
GeneReviewsiWHRN
HGNCiHGNC:16361 WHRN
HPAiCAB033194
HPA002480
MalaCardsiWHRN
MIMi607084 phenotype
607928 gene
611383 phenotype
neXtProtiNX_Q9P202
OpenTargetsiENSG00000095397
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
231178 Usher syndrome type 2
PharmGKBiPA27297

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410ITAG Eukaryota
ENOG410XTF7 LUCA
GeneTreeiENSGT00950000183002
InParanoidiQ9P202
KOiK21879
OMAiQREGDSR
OrthoDBi168224at2759
PhylomeDBiQ9P202
TreeFamiTF325033

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		WHRN human
EvolutionaryTraceiQ9P202

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		DFNB31

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		25861
PharosiQ9P202

Protein Ontology

More...PROi		PR:Q9P202

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000095397 Expressed in 168 organ(s), highest expression level in right adrenal gland
ExpressionAtlasiQ9P202 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR001478 PDZ
IPR036034 PDZ_sf
IPR033028 Whirlin
PANTHERiPTHR23116:SF37 PTHR23116:SF37, 1 hit
PfamiView protein in Pfam
PF00595 PDZ, 3 hits
SMARTiView protein in SMART
SM00228 PDZ, 3 hits
SUPFAMiSSF50156 SSF50156, 3 hits
PROSITEiView protein in PROSITE
PS50106 PDZ, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiWHRN_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9P202
Secondary accession number(s): A0A0C4DFT9
, A5PKU1, A5PKZ9, Q5TAU9, Q5TAV0, Q5TAV1, Q5TAV2, Q96MZ9, Q9H9F4, Q9UFZ3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: March 28, 2018
Last modified: October 16, 2019
This is version 169 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again