Seroatlas · Human Serome Atlas

WHRN

Whirlin

Also known as: CIP98, DFNB31, PDZD7B, USH2D, WHRN_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9P202
Gene: WHRN
Ensembl: ENSG00000095397
Chromosome: 9
Canonical length: 907 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Quaternary structure: Homooligomer

OverviewNCBI Gene

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-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

Canonical amino-acid sequenceUniProt

907 residues, UniProt reviewed canonical sequence.

>Q9P202|WHRN
     1  MNAPLDGLSV SSSSTGSLGS AAGAGGGGGA GLRLLSANVR QLHQALTALL SEAEREQFTH
    61  CLNAYHARRN VFDLVRTLRV LLDSPVKRRL LPMLRLVIPR SDQLLFDQYT AEGLYLPATT
   121  PYRQPAWGGP DSAGPGEVRL VSLRRAKAHE GLGFSIRGGS EHGVGIYVSL VEPGSLAEKE
   181  GLRVGDQILR VNDKSLARVT HAEAVKALKG SKKLVLSVYS AGRIPGGYVT NHIYTWVDPQ
   241  GRSISPPSGL PQPHGGALRQ QEGDRRSTLH LLQGGDEKKV NLVLGDGRSL GLTIRGGAEY
   301  GLGIYITGVD PGSEAEGSGL KVGDQILEVN GRSFLNILHD EAVRLLKSSR HLILTVKDVG
   361  RLPHARTTVD ETKWIASSRI RETMANSAGF LGDLTTEGIN KPGFYKGPAG SQVTLSSLGN
   421  QTRVLLEEQA RHLLNEQEHA TMAYYLDEYR GGSVSVEALV MALFKLLNTH AKFSLLSEVR
   481  GTISPQDLER FDHLVLRREI ESMKARQPPG PGAGDTYSMV SYSDTGSSTG SHGTSTTVSS
   541  ARNTLDLEET GEAVQGNINA LPDVSVDDVR STSQGLSSFK PLPRPPPLAQ GNDLPLGQPR
   601  KLGREDLQPP SSMPSCSGTV FSAPQNRSPP AGTAPTPGTS SAQDLPSSPI YASVSPANPS
   661  SKRPLDAHLA LVNQHPIGPF PRVQSPPHLK SPSAEATVAG GCLLPPSPSG HPDQTGTNQH
   721  FVMVEVHRPD SEPDVNEVRA LPQTRTASTL SQLSDSGQTL SEDSGVDAGE AEASAPGRGR
   781  QSVSTKSRSS KELPRNERPT DGANKPPGLL EPTSTLVRVK KSAATLGIAI EGGANTRQPL
   841  PRIVTIQRGG SAHNCGQLKV GHVILEVNGL TLRGKEHREA ARIIAEAFKT KDRDYIDFLV
   901  TEFNVML

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WHRN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.5
Highest tissue expression: 121 nTPM

Expression across tissuesHPA

Tissue

adrenal gland: 121 nTPM
testis: 59 nTPM
choroid plexus: 52 nTPM
pituitary gland: 42 nTPM
endometrium: 33 nTPM
spinal cord: 30 nTPM

Single-cell type

adrenal cortex cells: 371 nCPM
late spermatids: 281 nCPM
choroid plexus epithelial cells: 268 nCPM
sertoli cells: 202 nCPM
gonadotrophs: 188 nCPM
thyrotrophs: 140 nCPM

Immune cell

memory CD8 T-cell: 0.5 nTPM
MAIT T-cell: 0.4 nTPM
T-reg: 0.4 nTPM
NK-cell: 0.2 nTPM
memory CD4 T-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM

Brain region

choroid plexus: 139 nTPM
white matter: 138 nTPM
pons: 98 nTPM
medulla oblongata: 83 nTPM
basal ganglia: 81 nTPM
cerebral cortex: 79 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WHRN.

Disease | AllUniProt

Conditions WHRN is implicated in, by any mechanism.

Deafness, autosomal recessive, 31 (DFNB31) MIM:607084
Usher syndrome 2D (USH2D) MIM:611383

Disease | GeneticClinVar

56 pathogenic / likely-pathogenic of 956 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Usher syndrome type 2D
Autosomal recessive nonsyndromic hearing loss 31
Usher syndrome
Rare genetic deafness
Hepatocellular carcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.67
gnomAD pLI: 0
DepMap mean gene effect: 0.08
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

identical protein binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

PDZ domain
PDZ superfamily
Sensory Perception USH2 Complex Protein
PDZ domain
Whirlin, harmonin_N-like domain 2
Whirlin, harmonin_N-like domain 1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of WHRN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads WHRN as an antibody target. Whether an autoantibody or antibody against WHRN could matter depends on whether native WHRN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

WHRN is annotated at the cell surface, where native WHRN is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label WHRN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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