Seroatlas · Human Serome Atlas

WDR62

WD repeat-containing protein 62

Also known as: C19orf14, DKFZP434J046, FLJ33298, MCPH2, WDR62_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O43379
Gene: WDR62
Ensembl: ENSG00000075702
Chromosome: 19
Canonical length: 1518 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Centriolar satellite,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

Canonical amino-acid sequenceUniProt

1518 residues, UniProt reviewed canonical sequence.

>O43379|WDR62
     1  MAAVGSGGYA RNDAGEKLPS VMAGVPARRG QSSPPPAPPI CLRRRTRLST ASEETVQNRV
    61  SLEKVLGITA QNSSGLTCDP GTGHVAYLAG CVVVILDPKE NKQQHIFNTA RKSLSALAFS
   121  PDGKYIVTGE NGHRPAVRIW DVEEKNQVAE MLGHKYGVAC VAFSPNMKHI VSMGYQHDMV
   181  LNVWDWKKDI VVASNKVSCR VIALSFSEDS SYFVTVGNRH VRFWFLEVST ETKVTSTVPL
   241  VGRSGILGEL HNNIFCGVAC GRGRMAGSTF CVSYSGLLCQ FNEKRVLEKW INLKVSLSSC
   301  LCVSQELIFC GCTDGIVRIF QAHSLHYLAN LPKPHYLGVD VAQGLEPSFL FHRKAEAVYP
   361  DTVALTFDPI HQWLSCVYKD HSIYIWDVKD INRVGKVWSE LFHSSYVWNV EVYPEFEDQR
   421  ACLPSGSFLT CSSDNTIRFW NLDSSPDSHW QKNIFSNTLL KVVYVENDIQ HLQDMSHFPD
   481  RGSENGTPMD VKAGVRVMQV SPDGQHLASG DRSGNLRIHE LHFMDELVKV EAHDAEVLCL
   541  EYSKPETGLT LLASASRDRL IHVLNVEKNY NLEQTLDDHS SSITAIKFAG NRDIQMISCG
   601  ADKSIYFRSA QQGSDGLHFV RTHHVAEKTT LYDMDIDITQ KYVAVACQDR NVRVYNTVNG
   661  KQKKCYKGSQ GDEGSLLKVH VDPSGTFLAT SCSDKSISVI DFYSGECIAK MFGHSEIITS
   721  MKFTYDCHHL ITVSGDSCVF IWHLGPEITN CMKQHLLEID HRQQQQHTND KKRSGHPRQD
   781  TYVSTPSEIH SLSPGEQTED DLEEECEPEE MLKTPSKDSL DPDPRCLLTN GKLPLWAKRL
   841  LGDDDVADGL AFHAKRSYQP HGRWAERAGQ EPLKTILDAQ DLDCYFTPMK PESLENSILD
   901  SLEPQSLASL LSESESPQEA GRGHPSFLPQ QKESSEASEL ILYSLEAEVT VTGTDSQYCR
   961  KEVEAGPGDQ QGDSYLRVSS DSPKDQSPPE DSGESEADLE CSFAAIHSPA PPPDPAPRFA
  1021  TSLPHFPGCA GPTEDELSLP EGPSVPSSSL PQTPEQEKFL RHHFETLTES PCRALGDVEA
  1081  SEAEDHFFNP RLSISTQFLS SLQKASRFTH TFPPRATQCL VKSPEVKLMD RGGSQPRAGT
  1141  GYASPDRTHV LAAGKAEETL EAWRPPPPCL TSLASCVPAS SVLPTDRNLP TPTSAPTPGL
  1201  AQGVHAPSTC SYMEATASSR ARISRSISLG DSEGPIVATL AQPLRRPSSV GELASLGQEL
  1261  QAITTATTPS LDSEGQEPAL RSWGNHEARA NLRLTLSSAC DGLLQPPVDT QPGVTVPAVS
  1321  FPAPSPVEES ALRLHGSAFR PSLPAPESPG LPAHPSNPQL PEARPGIPGG TASLLEPTSG
  1381  ALGLLQGSPA RWSEPWVPVE ALPPSPLELS RVGNILHRLQ TTFQEALDLY RVLVSSGQVD
  1441  TGQQQARTEL VSTFLWIHSQ LEAECLVGTS VAPAQALPSP GPPSPPTLYP LASPDLQALL
  1501  EHYSELLVQA VRRKARGH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WDR62 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 103 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 103 nTPM
testis: 67 nTPM
tongue: 59 nTPM
heart muscle: 21 nTPM
retina: 6.2 nTPM
bone marrow: 5.1 nTPM

Single-cell type

cone photoreceptor cells: 124 nCPM
early primary spermatocytes: 107 nCPM
rod photoreceptor cells: 90 nCPM
late primary spermatocytes: 77 nCPM
late spermatids: 65 nCPM
differentiating spermatogonia: 40 nCPM

Immune cell

non-classical monocyte: 2.7 nTPM
intermediate monocyte: 0.7 nTPM
neutrophil: 0.6 nTPM
basophil: 0.5 nTPM
T-reg: 0.5 nTPM
naive B-cell: 0.2 nTPM

Brain region

cerebellum: 3.4 nTPM
white matter: 3.3 nTPM
cerebral cortex: 3 nTPM
midbrain: 2.7 nTPM
medulla oblongata: 2.6 nTPM
hippocampal formation: 2.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WDR62.

Disease | AllUniProt

Conditions WDR62 is implicated in, by any mechanism.

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) MIM:604317

Disease | GeneticClinVar

123 pathogenic / likely-pathogenic of 1,175 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
WDR62-related disorder
Autosomal recessive primary microcephaly
Inborn genetic diseases
Intellectual disability

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): 0.86
gnomAD pLI: 0
gnomAD missense Z: 0.67
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of WDR62 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 WDR62 as an antibody target. Whether an autoantibody or antibody against WDR62 could matter depends on whether native WDR62 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

WDR62 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label WDR62 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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