• Gene id: 25861

Gene Summary

• Gene Symbol: WHRN   Gene   UCSC   Ensembl
• Aliases: CIP98, DFNB31, PDZD7B, USH2D, WI
• Gene name: whirlin
• Alternate names: whirlin, CASK-interacting protein CIP98, autosomal recessive deafness type 31 protein,
• Gene location: 9q32 (114505499: 114402077)     Exons: 21     NC_000009.12
• Gene summary(Entrez): This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromi
• OMIM: 612402

Protein Summary

• Protein general information: Q9P202  
  • Name: Whirlin (Autosomal recessive deafness type 31 protein)
  • Length: 907  
  • Mass: 96558
• Sequence:

  MNAPLDGLSVSSSSTGSLGSAAGAGGGGGAGLRLLSANVRQLHQALTALLSEAEREQFTHCLNAYHARRNVFDLV
  RTLRVLLDSPVKRRLLPMLRLVIPRSDQLLFDQYTAEGLYLPATTPYRQPAWGGPDSAGPGEVRLVSLRRAKAHE
  GLGFSIRGGSEHGVGIYVSLVEPGSLAEKEGLRVGDQILRVNDKSLARVTHAEAVKALKGSKKLVLSVYSAGRIP
  GGYVTNHIYTWVDPQGRSISPPSGLPQPHGGALRQQEGDRRSTLHLLQGGDEKKVNLVLGDGRSLGLTIRGGAEY
  GLGIYITGVDPGSEAEGSGLKVGDQILEVNGRSFLNILHDEAVRLLKSSRHLILTVKDVGRLPHARTTVDETKWI
  ASSRIRETMANSAGFLGDLTTEGINKPGFYKGPAGSQVTLSSLGNQTRVLLEEQARHLLNEQEHATMAYYLDEYR
  GGSVSVEALVMALFKLLNTHAKFSLLSEVRGTISPQDLERFDHLVLRREIESMKARQPPGPGAGDTYSMVSYSDT
  GSSTGSHGTSTTVSSARNTLDLEETGEAVQGNINALPDVSVDDVRSTSQGLSSFKPLPRPPPLAQGNDLPLGQPR
  KLGREDLQPPSSMPSCSGTVFSAPQNRSPPAGTAPTPGTSSAQDLPSSPIYASVSPANPSSKRPLDAHLALVNQH
  PIGPFPRVQSPPHLKSPSAEATVAGGCLLPPSPSGHPDQTGTNQHFVMVEVHRPDSEPDVNEVRALPQTRTASTL
  SQLSDSGQTLSEDSGVDAGEAEASAPGRGRQSVSTKSRSSKELPRNERPTDGANKPPGLLEPTSTLVRVKKSAAT
  LGIAIEGGANTRQPLPRIVTIQRGGSAHNCGQLKVGHVILEVNGLTLRGKEHREAARIIAEAFKTKDRDYIDFLV
  TEFNVML

• Structural information:
  • Protein Domains: (140..22-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (279..36-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (816..89-)
    (/note="PDZ-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR001478  IPR036034  IPR033028  
  • Prosite: PS50106
  • PDB: 1UEZ 1UF1 1UFX
  • PDBsum: 1UEZ 1UF1 1UFX
  • STRING: ENSP00000354623
• Other Databases: GeneCards:  WHRN  Malacards:  WHRN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001895	retina homeostasis	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0021694	cerebellar Purkinje cell layer formation	IEA	biological process
GO:0032426	stereocilium tip	IEA	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IEA	biological process
GO:0060088	auditory receptor cell stereocilium organization	IEA	biological process
GO:0060122	inner ear receptor cell stereocilium organization	IEA	biological process
GO:1990696	USH2 complex	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0002141	stereocilia ankle link	IEA	cellular component
GO:0002142	stereocilia ankle link complex	IEA	cellular component
GO:0005884	actin filament	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0032421	stereocilium bundle	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0045184	establishment of protein localization	IEA	biological process
GO:1990075	periciliary membrane compartment	IEA	cellular component
GO:1990227	paranodal junction maintenance	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0032420	stereocilium	ISS	cellular component
GO:0060122	inner ear receptor cell stereocilium organization	ISS	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0001895	retina homeostasis	IMP	biological process
GO:0050953	sensory perception of light stimulus	IMP	biological process
GO:0060088	auditory receptor cell stereocilium organization	IBA	biological process
GO:0032426	stereocilium tip	IBA	cellular component
GO:0032420	stereocilium	IBA	cellular component
GO:0032391	photoreceptor connecting cilium	IBA	colocalizes with
GO:0007605	sensory perception of sound	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0002142	stereocilia ankle link complex	IBA	cellular component
GO:0002141	stereocilia ankle link	IBA	cellular component
GO:0001917	photoreceptor inner segment	IBA	colocalizes with
GO:0032426	stereocilium tip	ISS	cellular component
GO:0032426	stereocilium tip	ISS	cellular component
GO:1990696	USH2 complex	ISS	cellular component
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	ISS	biological process
GO:0001895	retina homeostasis	ISS	biological process
GO:1990075	periciliary membrane compartment	ISS	cellular component
GO:0002141	stereocilia ankle link	ISS	cellular component
GO:0045184	establishment of protein localization	ISS	biological process
GO:0002141	stereocilia ankle link	ISS	cellular component
GO:1990075	periciliary membrane compartment	ISS	cellular component
GO:0002141	stereocilia ankle link	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043025	neuronal cell body	ISS	colocalizes with
GO:0032420	stereocilium	ISS	cellular component
GO:0032391	photoreceptor connecting cilium	ISS	colocalizes with
GO:0001917	photoreceptor inner segment	ISS	colocalizes with
GO:0002142	stereocilia ankle link complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0050953	sensory perception of light stimulus	IEA	biological process

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Usher syndrome	KEGG:H00779
Deafness, autosomal recessive	KEGG:H00605
Usher syndrome	KEGG:H00779
Sensorineural hearing loss	PMID:12833159
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq