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Q9P202 (WHRN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Whirlin
Alternative name(s):
Autosomal recessive deafness type 31 protein
Gene names
Name:DFNB31
Synonyms:KIAA1526, WHRN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length907 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear By similarity.

Subunit structure

Forms homooligomers. Binds CASK, MPP1/p55 and MYO15A via the C-terminal PDZ domain. Binding to MYO15A is necessary for localization of DFNB31/WHRN to stereocilia tips. Interacts with USH2A, GPR98/MASS1 and LRRC4C/NGL1. Interacts with RPGR. Interacts with EPS8. Ref.10 Ref.12

Subcellular location

Cytoplasm By similarity. Cell projectionstereocilium By similarity. Cell projectiongrowth cone By similarity. Note: Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Colocalizes with the growing ends of actin filaments By similarity. Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). Ref.12

Involvement in disease

Deafness, autosomal recessive, 31 (DFNB31) [MIM:607084]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8 Ref.9

Usher syndrome 2D (USH2D) [MIM:611383]: USH 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

Contains 3 PDZ (DHR) domains.

Sequence caution

The sequence BAA96050.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P202-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9P202-2)

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.
Isoform 3 (identifier: Q9P202-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-383: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9P202-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 907907Whirlin
PRO_0000065968

Regions

Domain140 – 22384PDZ 1
Domain279 – 36183PDZ 2
Domain816 – 89984PDZ 3
Compositional bias9 – 3123Ala/Gly/Ser-rich
Compositional bias581 – 712132Pro-rich

Natural variations

Alternative sequence1 – 383383Missing in isoform 3.
VSP_012216
Alternative sequence1 – 351351Missing in isoform 4.
VSP_012217
Alternative sequence281 – 34565NLVLG…EAVRL → SGVGKGGQPLRHRILPPNPE QQSCLEAARRGWFCPGSVFP QVCTEGWCFFFAFLFDLCSV CYNTG in isoform 2.
VSP_012218
Alternative sequence346 – 907562Missing in isoform 2.
VSP_012219
Alternative sequence352 – 38938LILTV…ANSAG → MHGSLEALLFLPQVTLSLAH AHLICSNAQLEMCVFPHR in isoform 4.
VSP_012220
Natural variant3641R → H. Ref.1 Ref.5 Ref.6
Corresponds to variant rs10817610 [ dbSNP | Ensembl ].
VAR_036684
Natural variant4231R → P.
Corresponds to variant rs35003670 [ dbSNP | Ensembl ].
VAR_036685
Natural variant4401A → T.
Corresponds to variant rs4978584 [ dbSNP | Ensembl ].
VAR_020593
Natural variant4431A → S.
Corresponds to variant rs11539662 [ dbSNP | Ensembl ].
VAR_057029
Natural variant5621P → A.
Corresponds to variant rs12339210 [ dbSNP | Ensembl ].
VAR_036686
Natural variant6131M → T. Ref.2 Ref.6
Corresponds to variant rs942519 [ dbSNP | Ensembl ].
VAR_036687
Natural variant7521H → Q. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs6478078 [ dbSNP | Ensembl ].
VAR_036688
Natural variant7831V → A. Ref.2 Ref.6
Corresponds to variant rs2274159 [ dbSNP | Ensembl ].
VAR_020594
Natural variant7961N → K.
Corresponds to variant rs2274158 [ dbSNP | Ensembl ].
VAR_020595
Natural variant8131T → M.
Corresponds to variant rs942519 [ dbSNP | Ensembl ].
VAR_020596

Experimental info

Sequence conflict2251P → S in AK056190. Ref.2
Sequence conflict7161G → V in BAB14275. Ref.2

Secondary structure

.................................................. 907
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: D4E5982606E68A04

FASTA90796,586
        10         20         30         40         50         60 
MNAPLDGLSV SSSSTGSLGS AAGAGGGGGA GLRLLSANVR QLHQALTALL SEAEREQFTH 

        70         80         90        100        110        120 
CLNAYHARRN VFDLVRTLRV LLDSPVKRRL LPMLRLVIPR SDQLLFDQYT AEGLYLPATT 

       130        140        150        160        170        180 
PYRQPAWGGP DSAGPGEVRL VSLRRAKAHE GLGFSIRGGS EHGVGIYVSL VEPGSLAEKE 

       190        200        210        220        230        240 
GLRVGDQILR VNDKSLARVT HAEAVKALKG SKKLVLSVYS AGRIPGGYVT NHIYTWVDPQ 

       250        260        270        280        290        300 
GRSISPPSGL PQPHGGALRQ QEGDRRSTLH LLQGGDEKKV NLVLGDGRSL GLTIRGGAEY 

       310        320        330        340        350        360 
GLGIYITGVD PGSEAEGSGL KVGDQILEVN GRSFLNILHD EAVRLLKSSR HLILTVKDVG 

       370        380        390        400        410        420 
RLPRARTTVD ETKWIASSRI RETMANSAGF LGDLTTEGIN KPGFYKGPAG SQVTLSSLGN 

       430        440        450        460        470        480 
QTRVLLEEQA RHLLNEQEHA TMAYYLDEYR GGSVSVEALV MALFKLLNTH AKFSLLSEVR 

       490        500        510        520        530        540 
GTISPQDLER FDHLVLRREI ESMKARQPPG PGAGDTYSMV SYSDTGSSTG SHGTSTTVSS 

       550        560        570        580        590        600 
ARNTLDLEET GEAVQGNINA LPDVSVDDVR STSQGLSSFK PLPRPPPLAQ GNDLPLGQPR 

       610        620        630        640        650        660 
KLGREDLQPP SSMPSCSGTV FSAPQNRSPP AGTAPTPGTS SAQDLPSSPI YASVSPANPS 

       670        680        690        700        710        720 
SKRPLDAHLA LVNQHPIGPF PRVQSPPHLK SPSAEATVAG GCLLPPSPSG HPDQTGTNQH 

       730        740        750        760        770        780 
FVMVEVHRPD SEPDVNEVRA LPQTRTASTL SHLSDSGQTL SEDSGVDAGE AEASAPGRGR 

       790        800        810        820        830        840 
QSVSTKSRSS KELPRNERPT DGANKPPGLL EPTSTLVRVK KSAATLGIAI EGGANTRQPL 

       850        860        870        880        890        900 
PRIVTIQRGG SAHNCGQLKV GHVILEVNGL TLRGKEHREA ARIIAEAFKT KDRDYIDFLV 


TEFNVML 

« Hide

Isoform 2 [UniParc].

Checksum: 389719C312FA0D37
Show »

FASTA34537,110
Isoform 3 [UniParc].

Checksum: 699AD98C80D3E625
Show »

FASTA52455,581
Isoform 4 [UniParc].

Checksum: E462067F57ADED36
Show »

FASTA55659,260

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-364 AND GLN-752.
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4), VARIANTS THR-613; GLN-752 AND ALA-783.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT GLN-752.
Tissue: Testis.
[4]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS HIS-364 AND GLN-752.
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-364; THR-613; GLN-752 AND ALA-783.
[7]"DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34."
Mustapha M., Chouery E., Chardenoux S., Naboulsi M., Paronnaud J., Lemainque A., Megarbane A., Loiselet J., Weil D., Lathrop M., Petit C.
Eur. J. Hum. Genet. 10:210-212(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN DFNB31.
[8]"Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31."
Mburu P., Mustapha M., Varela A., Weil D., El-Amraoui A., Holme R.H., Rump A., Hardisty R.E., Blanchard S., Coimbra R.S., Perfettini I., Parkinson N., Mallon A.-M., Glenister P., Rogers M.J., Paige A.J., Moir L., Clay J. expand/collapse author list , Rosenthal A., Liu X.Z., Blanco G., Steel K.P., Petit C., Brown S.D.
Nat. Genet. 34:421-428(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN DFNB31, ALTERNATIVE SPLICING.
[9]"Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss."
Tlili A., Charfedine I., Lahmar I., Benzina Z., Mohamed B.A., Weil D., Idriss N., Drira M., Masmoudi S., Ayadi H.
Hum. Mutat. 25:503-503(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN DFNB31.
[10]"The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1."
van Wijk E., van der Zwaag B., Peters T., Zimmermann U., Te Brinke H., Kersten F.F.J., Maerker T., Aller E., Hoefsloot L.H., Cremers C.W.R.J., Cremers F.P.M., Wolfrum U., Knipper M., Roepman R., Kremer H.
Hum. Mol. Genet. 15:751-765(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH USH2A AND GPR98/MASS1.
[11]"A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss."
Ebermann I., Scholl H.P.N., Charbel Issa P., Becirovic E., Lamprecht J., Jurklies B., Millan J.M., Aller E., Mitter D., Bolz H.
Hum. Genet. 121:203-211(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN USH2.
[12]"MPP1 links the Usher protein network and the Crumbs protein complex in the retina."
Gosens I., van Wijk E., Kersten F.F., Krieger E., van der Zwaag B., Maerker T., Letteboer S.J., Dusseljee S., Peters T., Spierenburg H.A., Punte I.M., Wolfrum U., Cremers F.P.M., Kremer H., Roepman R.
Hum. Mol. Genet. 16:1993-2003(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH MPP1, SUBCELLULAR LOCATION.
[13]"Solution structure of PDZ domains of human KIAA1526 protein."
RIKEN structural genomics initiative (RSGI)
Submitted (DEC-2003) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 136-378 AND 815-904.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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. Translation: CAI17244.1.
AL138895 Genomic DNA. Translation: CAI17245.1.
AL138895 Genomic DNA. Translation: CAI17246.1.
AL138895 Genomic DNA. Translation: CAI17247.1.
CH471090 Genomic DNA. Translation: EAW87422.1.
CH471090 Genomic DNA. Translation: EAW87423.1.
BC142614 mRNA. Translation: AAI42615.1.
BC142684 mRNA. Translation: AAI42685.1.
PIRT14765.
RefSeqNP_001077354.2. NM_001083885.2.
NP_001166896.1. NM_001173425.1.
NP_056219.3. NM_015404.3.
XP_005251952.2. XM_005251895.2.
UniGeneHs.93836.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1UEZNMR-A136-224[»]
1UF1NMR-A263-378[»]
1UFXNMR-A815-904[»]
ProteinModelPortalQ9P202.
SMRQ9P202. Positions 43-378, 813-904.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117381. 1 interaction.
IntActQ9P202. 4 interactions.
MINTMINT-3056156.
STRING9606.ENSP00000354623.

PTM databases

PhosphoSiteQ9P202.

Polymorphism databases

DMDM296453079.

Proteomic databases

PaxDbQ9P202.
PRIDEQ9P202.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265134; ENSP00000265134; ENSG00000095397. [Q9P202-3]
ENST00000362057; ENSP00000354623; ENSG00000095397. [Q9P202-1]
ENST00000374057; ENSP00000363170; ENSG00000095397. [Q9P202-2]
ENST00000374059; ENSP00000363172; ENSG00000095397. [Q9P202-4]
GeneID25861.
KEGGhsa:25861.
UCSCuc004bix.3. human. [Q9P202-4]
uc004biy.4. human. [Q9P202-1]
uc004bjb.3. human. [Q9P202-2]

Organism-specific databases

CTD25861.
GeneCardsGC09M117164.
HGNCHGNC:16361. DFNB31.
HPACAB033194.
HPA002386.
HPA002480.
MIM607084. phenotype.
607928. gene.
611383. phenotype.
neXtProtNX_Q9P202.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
231178. Usher syndrome type 2.
PharmGKBPA27297.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG291372.
HOVERGENHBG056634.
InParanoidQ9P202.
OMAAPQNRSP.
OrthoDBEOG7J9VQG.
PhylomeDBQ9P202.
TreeFamTF325033.

Gene expression databases

BgeeQ9P202.
CleanExHS_DFNB31.
GenevestigatorQ9P202.

Family and domain databases

Gene3D2.30.42.10. 3 hits.
InterProIPR001478. PDZ.
[Graphical view]
PfamPF00595. PDZ. 3 hits.
[Graphical view]
SMARTSM00228. PDZ. 3 hits.
[Graphical view]
SUPFAMSSF50156. SSF50156. 3 hits.
PROSITEPS50106. PDZ. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9P202.
GeneWikiDFNB31.
GenomeRNAi25861.
NextBio47225.
PROQ9P202.
SOURCESearch...

Entry information

Entry nameWHRN_HUMAN
AccessionPrimary (citable) accession number: Q9P202
Secondary accession number(s): A5PKU1 expand/collapse secondary AC list , A5PKZ9, Q5TAU9, Q5TAV0, Q5TAV1, Q5TAV2, Q96MZ9, Q9H9F4, Q9UFZ3
Entry history
Integrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 123 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM