UniProtKB - Q9P202 (WHRN_HUMAN)

>sp|Q9P202|WHRN_HUMAN Whirlin OS=Homo sapiens OX=9606 GN=WHRN PE=1 SV=4
MNAPLDGLSVSSSSTGSLGSAAGAGGGGGAGLRLLSANVRQLHQALTALLSEAEREQFTH
CLNAYHARRNVFDLVRTLRVLLDSPVKRRLLPMLRLVIPRSDQLLFDQYTAEGLYLPATT
PYRQPAWGGPDSAGPGEVRLVSLRRAKAHEGLGFSIRGGSEHGVGIYVSLVEPGSLAEKE
GLRVGDQILRVNDKSLARVTHAEAVKALKGSKKLVLSVYSAGRIPGGYVTNHIYTWVDPQ
GRSISPPSGLPQPHGGALRQQEGDRRSTLHLLQGGDEKKVNLVLGDGRSLGLTIRGGAEY
GLGIYITGVDPGSEAEGSGLKVGDQILEVNGRSFLNILHDEAVRLLKSSRHLILTVKDVG
RLPHARTTVDETKWIASSRIRETMANSAGFLGDLTTEGINKPGFYKGPAGSQVTLSSLGN
QTRVLLEEQARHLLNEQEHATMAYYLDEYRGGSVSVEALVMALFKLLNTHAKFSLLSEVR
GTISPQDLERFDHLVLRREIESMKARQPPGPGAGDTYSMVSYSDTGSSTGSHGTSTTVSS
ARNTLDLEETGEAVQGNINALPDVSVDDVRSTSQGLSSFKPLPRPPPLAQGNDLPLGQPR
KLGREDLQPPSSMPSCSGTVFSAPQNRSPPAGTAPTPGTSSAQDLPSSPIYASVSPANPS
SKRPLDAHLALVNQHPIGPFPRVQSPPHLKSPSAEATVAGGCLLPPSPSGHPDQTGTNQH
FVMVEVHRPDSEPDVNEVRALPQTRTASTLSQLSDSGQTLSEDSGVDAGEAEASAPGRGR
QSVSTKSRSSKELPRNERPTDGANKPPGLLEPTSTLVRVKKSAATLGIAIEGGANTRQPL
PRIVTIQRGGSAHNCGQLKVGHVILEVNGLTLRGKEHREAARIIAEAFKTKDRDYIDFLV
TEFNVML

Entry version 175 (12 Aug 2020)
Sequence version 4 (28 Mar 2018)
Previous versions | rss

Help video Add a publication Feedback

Protein

Whirlin

Gene

WHRN

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

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

GO - Molecular functionⁱ

identical protein binding Source: Ensembl

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Hearing

Biological process

Hearing

Enzyme and pathway databases

PathwayCommonsⁱ	Q9P202

PathwayCommonsⁱ

Q9P202

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: WhirlinCurated Alternative name(s): Autosomal recessive deafness type 31 proteinCurated
Gene namesⁱ	Name:WHRNImported Synonyms:DFNB311 Publication, KIAA1526
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 9

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000095397.13
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:16361, WHRN
MIMⁱ	607928, gene
neXtProtⁱ	NX_Q9P202

Keywords - Cellular componentⁱ

Cell junction, Cell projection, Cytoplasm, Synapse

Pathology & Biotechⁱ

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
GeneReviewsⁱ	WHRN
MalaCards human disease database More...MalaCardsⁱ	WHRN
MIMⁱ	607084, phenotype 611383, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000095397
Orphanetⁱ	90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 231178, Usher syndrome type 2
PharmGKBⁱ	PA27297

Miscellaneous databases

Pharosⁱ	Q9P202, Tbio

Pharosⁱ

Q9P202, Tbio

Polymorphism and mutation databases

BioMutaⁱ	WHRN
DMDMⁱ	296453079

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000065968	1 – 907	WhirlinAdd BLAST		907

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	685	PhosphoserineCombined sources		1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

EPDⁱ	Q9P202
jPOSTⁱ	Q9P202
MassIVEⁱ	Q9P202
PaxDbⁱ	Q9P202
PeptideAtlas More...PeptideAtlasⁱ	Q9P202
PRIDEⁱ	Q9P202
ProteomicsDBⁱ	83692 [Q9P202-1] 83693 [Q9P202-2] 83694 [Q9P202-3] 83695 [Q9P202-4]

PTM databases

iPTMnetⁱ	Q9P202
PhosphoSitePlusⁱ	Q9P202
SwissPalmⁱ	Q9P202

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000095397, Expressed in right adrenal gland and 187 other tissues
ExpressionAtlasⁱ	Q9P202, baseline and differential

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000095397, Tissue enhanced (adrenal)

HPAⁱ

ENSG00000095397, Tissue enhanced (adrenal)

Interactionⁱ

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

Binary interactionsⁱ

Hide details

Q9P202

With	#Exp.	IntAct
BEND7 - isoform 2 [Q8N7W2-2]	3	EBI-310886,EBI-10181188
BMI1 [P35226]	3	EBI-310886,EBI-2341576
COL17A1 [Q9UMD9]	3	EBI-310886,EBI-2528742
DDIT4L [Q96D03]	3	EBI-310886,EBI-742054
EFHC1 [Q5JVL4]	3	EBI-310886,EBI-743105
GOLGA2 [Q08379]	3	EBI-310886,EBI-618309
GPSM2 [P81274]	3	EBI-310886,EBI-618655
KEAP1 [Q14145]	3	EBI-310886,EBI-751001
PXN - isoform Alpha [P49023-2]	3	EBI-310886,EBI-11954250
SPC24 [Q8NBT2]	3	EBI-310886,EBI-999900
TPRN - isoform 2 [Q4KMQ1-2]	7	EBI-310886,EBI-11978969

GO - Molecular functionⁱ

identical protein binding Source: Ensembl

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	117381, 11 interactors
CORUMⁱ	Q9P202
IntActⁱ	Q9P202, 16 interactors
Molecular INTeraction database More...MINTⁱ	Q9P202
STRINGⁱ	9606.ENSP00000354623

Miscellaneous databases

RNActⁱ	Q9P202, protein

RNActⁱ

Q9P202, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	139 – 141	Combined sources	3
Beta strandⁱ	152 – 158	Combined sources	7
Turnⁱ	160 – 163	Combined sources	4
Beta strandⁱ	166 – 171	Combined sources	6
Helixⁱ	176 – 180	Combined sources	5
Beta strandⁱ	188 – 191	Combined sources	4
Helixⁱ	201 – 207	Combined sources	7
Beta strandⁱ	208 – 213	Combined sources	6
Beta strandⁱ	216 – 218	Combined sources	3
Turnⁱ	263 – 265	Combined sources	3
Beta strandⁱ	275 – 283	Combined sources	9
Beta strandⁱ	292 – 295	Combined sources	4
Turnⁱ	298 – 301	Combined sources	4
Beta strandⁱ	305 – 309	Combined sources	5
Helixⁱ	314 – 318	Combined sources	5
Beta strandⁱ	325 – 329	Combined sources	5
Helixⁱ	339 – 346	Combined sources	8
Beta strandⁱ	350 – 357	Combined sources	8
Beta strandⁱ	815 – 820	Combined sources	6
Beta strandⁱ	823 – 825	Combined sources	3
Beta strandⁱ	828 – 831	Combined sources	4
Beta strandⁱ	842 – 846	Combined sources	5
Helixⁱ	851 – 855	Combined sources	5
Helixⁱ	877 – 889	Combined sources	13
Beta strandⁱ	894 – 900	Combined sources	7

Show more details

3D structure databases

SMRⁱ	Q9P202
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q9P202

EvolutionaryTraceⁱ

Q9P202

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	140 – 223	PDZ 1PROSITE-ProRule annotationAdd BLAST	84
Domainⁱ	279 – 361	PDZ 2PROSITE-ProRule annotationAdd BLAST	83
Domainⁱ	816 – 899	PDZ 3PROSITE-ProRule annotationAdd BLAST	84

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	9 – 31	Ala/Gly/Ser-richAdd BLAST		23
Compositional biasⁱ	581 – 712	Pro-richAdd BLAST		132

Keywords - Domainⁱ

Repeat

Phylogenomic databases

eggNOGⁱ	KOG3528, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00950000183002
HOGENOMⁱ	CLU_069153_0_0_1
InParanoidⁱ	Q9P202
KEGG Orthology (KO) More...KOⁱ	K21879
OMAⁱ	ANQHFIM
Database of Orthologous Groups More...OrthoDBⁱ	168224at2759
PhylomeDBⁱ	Q9P202
TreeFamⁱ	TF325033

Family and domain databases

Gene3Dⁱ	2.30.42.10, 3 hits
InterProⁱ	View protein in InterPro IPR001478, PDZ IPR036034, PDZ_sf IPR033028, Whirlin
PANTHERⁱ	PTHR23116:SF37, PTHR23116:SF37, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00595, PDZ, 3 hits
SMARTⁱ	View protein in SMART SM00228, PDZ, 3 hits
SUPFAMⁱ	SSF50156, SSF50156, 3 hits
PROSITEⁱ	View protein in PROSITE PS50106, PDZ, 3 hits

Sequences (4+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 4 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q9P202-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 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

Checksum:ⁱ78ABE7A305132B89

Isoform 2 (identifier: Q9P202-2) [UniParc]FASTA Add to basket

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

« 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 SGVGKGGQPL RHRILPPNPE 
       310        320        330        340 
QQSCLEAARR GWFCPGSVFP QVCTEGWCFF FAFLFDLCSV CYNTG

Note: May be due to an intron retention.Curated

Show »

Length:345

Mass (Da):37,110

Checksum:ⁱ389719C312FA0D37

Isoform 3 (identifier: Q9P202-3) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MANSAGFLGD LTTEGINKPG FYKGPAGSQV TLSSLGNQTR VLLEEQARHL 
        60         70         80         90        100
LNEQEHATMA YYLDEYRGGS VSVEALVMAL FKLLNTHAKF SLLSEVRGTI 
       110        120        130        140        150
SPQDLERFDH LVLRREIESM KARQPPGPGA GDTYSMVSYS DTGSSTGSHG 
       160        170        180        190        200
TSTTVSSARN TLDLEETGEA VQGNINALPD VSVDDVRSTS QGLSSFKPLP 
       210        220        230        240        250
RPPPLAQGND LPLGQPRKLG REDLQPPSSM PSCSGTVFSA PQNRSPPAGT 
       260        270        280        290        300
APTPGTSSAQ DLPSSPIYAS VSPANPSSKR PLDAHLALVN QHPIGPFPRV 
       310        320        330        340        350
QSPPHLKSPS AEATVAGGCL LPPSPSGHPD QTGTNQHFVM VEVHRPDSEP 
       360        370        380        390        400
DVNEVRALPQ TRTASTLSQL SDSGQTLSED SGVDAGEAEA SAPGRGRQSV 
       410        420        430        440        450
STKSRSSKEL PRNERPTDGA NKPPGLLEPT STLVRVKKSA ATLGIAIEGG 
       460        470        480        490        500
ANTRQPLPRI VTIQRGGSAH NCGQLKVGHV ILEVNGLTLR GKEHREAARI 
       510        520 
IAEAFKTKDR DYIDFLVTEF NVML

Show »

Length:524

Mass (Da):55,572

Checksum:ⁱ698C9BE6632647AC

Isoform 4 (identifier: Q9P202-4) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MHGSLEALLF LPQVTLSLAH AHLICSNAQL EMCVFPHRFL GDLTTEGINK 
        60         70         80         90        100
PGFYKGPAGS QVTLSSLGNQ TRVLLEEQAR HLLNEQEHAT MAYYLDEYRG 
       110        120        130        140        150
GSVSVEALVM ALFKLLNTHA KFSLLSEVRG TISPQDLERF DHLVLRREIE 
       160        170        180        190        200
SMKARQPPGP GAGDTYSMVS YSDTGSSTGS HGTSTTVSSA RNTLDLEETG 
       210        220        230        240        250
EAVQGNINAL PDVSVDDVRS TSQGLSSFKP LPRPPPLAQG NDLPLGQPRK 
       260        270        280        290        300
LGREDLQPPS SMPSCSGTVF SAPQNRSPPA GTAPTPGTSS AQDLPSSPIY 
       310        320        330        340        350
ASVSPANPSS KRPLDAHLAL VNQHPIGPFP RVQSPPHLKS PSAEATVAGG 
       360        370        380        390        400
CLLPPSPSGH PDQTGTNQHF VMVEVHRPDS EPDVNEVRAL PQTRTASTLS 
       410        420        430        440        450
QLSDSGQTLS EDSGVDAGEA EASAPGRGRQ SVSTKSRSSK ELPRNERPTD 
       460        470        480        490        500
GANKPPGLLE PTSTLVRVKK SAATLGIAIE GGANTRQPLP RIVTIQRGGS 
       510        520        530        540        550
AHNCGQLKVG HVILEVNGLT LRGKEHREAA RIIAEAFKTK DRDYIDFLVT 

EFNVML

Show »

Length:556

Mass (Da):59,251

Checksum:ⁱE4744415B4584CBF

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A669KBJ1	A0A669KBJ1_HUMAN	Whirlin Whirlin	WHRN	565	Annotation score:
A0A669KBA5	A0A669KBA5_HUMAN	Whirlin Whirlin	WHRN	20	Annotation score:

Sequence cautionⁱ

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

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	225	P → S in AK056190 (PubMed:14702039).Curated		1
Sequence conflictⁱ	716	G → V in BAB14275 (PubMed:14702039).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_036684	364	H → R. Corresponds to variant dbSNP:rs10817610EnsemblClinVar.	1
Natural variantⁱVAR_036685	423	R → P. Corresponds to variant dbSNP:rs35003670Ensembl.	1
Natural variantⁱVAR_020593	440	A → T. Corresponds to variant dbSNP:rs4978584EnsemblClinVar.	1
Natural variantⁱVAR_057029	443	A → S. Corresponds to variant dbSNP:rs11539662Ensembl.	1
Natural variantⁱVAR_036686	562	P → A. Corresponds to variant dbSNP:rs12339210EnsemblClinVar.	1
Natural variantⁱVAR_036687	613	M → T2 PublicationsCorresponds to variant dbSNP:rs942519EnsemblClinVar.	1
Natural variantⁱVAR_036688	752	Q → H. Corresponds to variant dbSNP:rs6478078EnsemblClinVar.	1
Natural variantⁱVAR_020594	783	V → A2 PublicationsCorresponds to variant dbSNP:rs2274159EnsemblClinVar.	1
Natural variantⁱVAR_020595	796	N → K. Corresponds to variant dbSNP:rs2274158EnsemblClinVar.	1
Natural variantⁱVAR_020596	813	T → M. Corresponds to variant dbSNP:rs942519EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_012216	1 – 383	Missing in isoform 3. 1 PublicationAdd BLAST	383
Alternative sequenceⁱVSP_012217	1 – 351	Missing in isoform 4. 1 PublicationAdd BLAST	351
Alternative sequenceⁱVSP_012218	281 – 345	NLVLG…EAVRL → SGVGKGGQPLRHRILPPNPE QQSCLEAARRGWFCPGSVFP QVCTEGWCFFFAFLFDLCSV CYNTG in isoform 2. 1 PublicationAdd BLAST	65
Alternative sequenceⁱVSP_012219	346 – 907	Missing in isoform 2. 1 PublicationAdd BLAST	562
Alternative sequenceⁱVSP_012220	352 – 389	LILTV…ANSAG → MHGSLEALLFLPQVTLSLAH AHLICSNAQLEMCVFPHR in isoform 4. 1 PublicationAdd BLAST	38

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS43870.1 [Q9P202-3] CCDS6806.1 [Q9P202-1] CCDS87678.1 [Q9P202-4]
PIRⁱ	T14765
NCBI Reference Sequences More...RefSeqⁱ	NP_001077354.2, NM_001083885.2 [Q9P202-3] NP_001166896.1, NM_001173425.1 NP_001333819.1, NM_001346890.1 [Q9P202-4] NP_056219.3, NM_015404.3 [Q9P202-1]

Genome annotation databases

Ensemblⁱ	ENST00000265134; ENSP00000265134; ENSG00000095397 [Q9P202-3] ENST00000362057; ENSP00000354623; ENSG00000095397 [Q9P202-1] ENST00000374057; ENSP00000363170; ENSG00000095397 [Q9P202-2]
GeneIDⁱ	25861
KEGGⁱ	hsa:25861
UCSC genome browser More...UCSCⁱ	uc004biy.5, human [Q9P202-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9P202	Isoform 3 of Whirlin		HUMAN		524	UniRef90_Q9P202
Whirlin		GORGO		907
Uncharacterized protein		CERAT		907
Uncharacterized protein		Cebus capucinus imitator		907
Whirlin		MACMU		907
+80
Q9P202-2	Whirlin		NOMLE		346	UniRef90_Q9P202-2
PDZ domain-containing protein		RHIRO		345
PDZ domain-containing protein		MACFA		345
PDZ domain-containing protein		MACNE		345
PDZ domain-containing protein		RHIBE		345
+5
Q9P202-4	WHRN isoform 5 (Fragment)		PONAB		557	UniRef90_Q9P202-4
WHRN isoform 5		PANTR		556
PDZ domain-containing protein		RHIRO		555
PDZ domain-containing protein		CERAT		555

Protein	Similar proteins		Species	Score	Length	Source
Q9P202	Isoform 3 of Whirlin		HUMAN		524	UniRef50_Q9P202
Whirlin		MACMU		907
Uncharacterized protein		RHIRO		907
Uncharacterized protein		Cebus capucinus imitator		907
Whirlin		GORGO		907
+89
Q9P202-2	Whirlin		NOMLE		346	UniRef50_Q9P202-2
PDZ domain-containing protein		CERAT		345
PDZ domain-containing protein		MACFA		345
PDZ domain-containing protein		MACNE		345
PDZ domain-containing protein		RHIBE		345
+8
Q9P202-4	WHRN isoform 5 (Fragment)		PONAB		557	UniRef50_Q9P202-4
WHRN isoform 5		PANTR		556
PDZ domain-containing protein		CERAT		555
PDZ domain-containing protein		RHIRO		555
PDZ domain-containing protein		PROCO		553
+18

Cross-referencesⁱ

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
CCDSⁱ	CCDS43870.1 [Q9P202-3] CCDS6806.1 [Q9P202-1] CCDS87678.1 [Q9P202-4]
PIRⁱ	T14765
RefSeqⁱ	NP_001077354.2, NM_001083885.2 [Q9P202-3] NP_001166896.1, NM_001173425.1 NP_001333819.1, NM_001346890.1 [Q9P202-4] 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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	1UEZ	NMR	-	A	137-224	[»]
	1UF1	NMR	-	A	263-378	[»]
	1UFX	NMR	-	A	815-904	[»]
SMRⁱ	Q9P202
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	117381, 11 interactors
CORUMⁱ	Q9P202
IntActⁱ	Q9P202, 16 interactors
MINTⁱ	Q9P202
STRINGⁱ	9606.ENSP00000354623

PTM databases

iPTMnetⁱ	Q9P202
PhosphoSitePlusⁱ	Q9P202
SwissPalmⁱ	Q9P202

Polymorphism and mutation databases

BioMutaⁱ	WHRN
DMDMⁱ	296453079

Proteomic databases

EPDⁱ	Q9P202
jPOSTⁱ	Q9P202
MassIVEⁱ	Q9P202
PaxDbⁱ	Q9P202
PeptideAtlasⁱ	Q9P202
PRIDEⁱ	Q9P202
ProteomicsDBⁱ	83692 [Q9P202-1] 83693 [Q9P202-2] 83694 [Q9P202-3] 83695 [Q9P202-4]

Protocols and materials databases

Antibodypediaⁱ	29951, 151 antibodies

Antibodypediaⁱ

29951, 151 antibodies

Genome annotation databases

Ensemblⁱ	ENST00000265134; ENSP00000265134; ENSG00000095397 [Q9P202-3] ENST00000362057; ENSP00000354623; ENSG00000095397 [Q9P202-1] ENST00000374057; ENSP00000363170; ENSG00000095397 [Q9P202-2]
GeneIDⁱ	25861
KEGGⁱ	hsa:25861
UCSCⁱ	uc004biy.5, human [Q9P202-1]

Organism-specific databases

CTDⁱ	25861
DisGeNETⁱ	25861
EuPathDBⁱ	HostDB:ENSG00000095397.13
GeneCardsⁱ	WHRN
GeneReviewsⁱ	WHRN
HGNCⁱ	HGNC:16361, WHRN
HPAⁱ	ENSG00000095397, Tissue enhanced (adrenal)
MalaCardsⁱ	WHRN
MIMⁱ	607084, phenotype 607928, gene 611383, phenotype
neXtProtⁱ	NX_Q9P202
OpenTargetsⁱ	ENSG00000095397
Orphanetⁱ	90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 231178, Usher syndrome type 2
PharmGKBⁱ	PA27297
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3528, Eukaryota
GeneTreeⁱ	ENSGT00950000183002
HOGENOMⁱ	CLU_069153_0_0_1
InParanoidⁱ	Q9P202
KOⁱ	K21879
OMAⁱ	ANQHFIM
OrthoDBⁱ	168224at2759
PhylomeDBⁱ	Q9P202
TreeFamⁱ	TF325033

Enzyme and pathway databases

PathwayCommonsⁱ	Q9P202

PathwayCommonsⁱ

Q9P202

Miscellaneous databases

BioGRID-ORCSⁱ	25861, 10 hits in 871 CRISPR screens
ChiTaRSⁱ	WHRN, human
EvolutionaryTraceⁱ	Q9P202
GeneWikiⁱ	DFNB31
GenomeRNAiⁱ	25861
Pharosⁱ	Q9P202, Tbio
Protein Ontology More...PROⁱ	PR:Q9P202
RNActⁱ	Q9P202, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000095397, Expressed in right adrenal gland and 187 other tissues
ExpressionAtlasⁱ	Q9P202, baseline and differential

Family and domain databases

Gene3Dⁱ	2.30.42.10, 3 hits
InterProⁱ	View protein in InterPro IPR001478, PDZ IPR036034, PDZ_sf IPR033028, Whirlin
PANTHERⁱ	PTHR23116:SF37, PTHR23116:SF37, 1 hit
Pfamⁱ	View protein in Pfam PF00595, PDZ, 3 hits
SMARTⁱ	View protein in SMART SM00228, PDZ, 3 hits
SUPFAMⁱ	SSF50156, SSF50156, 3 hits
PROSITEⁱ	View protein in PROSITE PS50106, PDZ, 3 hits
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	WHRN_HUMAN
Accessionⁱ	Q9P202Primary (citable) accession number: Q9P202 Secondary accession number(s): A0A0C4DFT9 Q9UFZ3
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 7, 2004
	Last sequence update:	March 28, 2018
	Last modified:	August 12, 2020
	This is version 175 of the entry and version 4 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q9P202 (WHRN_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the 'basket' to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Whirlin

WHRN

Select a section on the left to see content.

<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

<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

GO - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

Other locations

Cytoskeleton

Plasma Membrane

Other locations

Keywords - Cellular componenti

<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

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Organism-specific databases

<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

Q9P202

GO - Molecular functioni

Protein-protein interaction databases

Miscellaneous databases

<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

3D structure databases

Miscellaneous databases

<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

Compositional bias

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<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

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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%5Freferences%5Fsection">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

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ