Seroatlas · Human Serome Atlas

PDZD7

PDZ domain-containing protein 7

Also known as: bA108L7.8, DFNB57, FLJ23209, PDZD7_HUMAN, PDZK7

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

Protein identityUniProt · HPA

UniProt accession: Q9H5P4
Gene: PDZD7
Ensembl: ENSG00000186862
Chromosome: 10
Canonical length: 1033 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Primary cilium,Basal body
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

1033 residues, UniProt reviewed canonical sequence.

>Q9H5P4|PDZD7
     1  MAQGFAVGFD PLGLGDLSSG SLSSLSSRGH LGSDSGSTAT RYLLRKQQRL LNGPPRGIRA
    61  SSPMGRVILI NSPIEANSDE SDIIHSVRVE KSPAGRLGFS VRGGSEHGLG IFVSKVEEGS
   121  SAERAGLCVG DKITEVNGLS LESTTMGSAV KVLTSSSRLH MMVRRMGRVP GIKFSKEKTT
   181  WVDVVNRRLV VEKCGSTPSD TSSEDGVRRI VHLYTTSDDF CLGFNIRGGK EFGLGIYVSK
   241  VDHGGLAEEN GIKVGDQVLA ANGVRFDDIS HSQAVEVLKG QTHIMLTIKE TGRYPAYKEM
   301  VSEYCWLDRL SNGVLQQLSP ASESSSSVSS CASSAPYSSG SLPSDRMDIC LGQEEPGSRG
   361  PGWGRADTAM QTEPDAGGRV ETWCSVRPTV ILRDTAIRSD GPHPGRRLDS ALSESPKTAL
   421  LLALSRPRPP ITRSQSYLTL WEEKQQRKKE KSGSPGEKGA LQRSKTLMNL FFKGGRQGRL
   481  ARDGRREAWT LDSGSLAKTY PRLDIEKAGG VGPVQKFVTW RLRRDQERGR ALLSARSGSP
   541  SSQLPNVDEQ VQAWESRRPL IQDLAQRLLT DDEVLAVTRH CSRYVHEGGI EDLVRPLLAI
   601  LDRPEKLLLL QDIRSVVAPT DLGRFDSMVM LVELEAFEAL KSRAVRPPAL RPARQDTPPK
   661  RHLITPVPDS RGGFYLLPVN GFPEEEDNGE LRERLGALKV SPSASAPRHP HKGIPPLQDV
   721  PVDAFTPLRI ACTPPPQLPP VAPRPLRPNW LLTEPLSREH PPQSQIRGRA QSRSRSRSRS
   781  RSRSSRGQGK SPGRRSPSPV PTPAPSMTNG RYHKPRKARP PLPRPLDGEA AKVGAKQGPS
   841  ESGTEGTAKE AAMKNPSGEL KTVTLSKMKQ SLGISISGGI ESKVQPMVKI EKIFPGGAAF
   901  LSGALQAGFE LVAVDGENLE QVTHQRAVDT IRRAYRNKAR EPMELVVRVP GPSPRPSPSD
   961  SSALTDGGLP ADHLPAHQPL DAAPVPAHWL PEPPTNPQTP PTDARLLQPT PSPAPSPALQ
  1021  TPDSKPAPSP RIP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PDZD7 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): 0.54
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 21 nTPM
small intestine: 19 nTPM
duodenum: 12 nTPM
cerebral cortex: 12 nTPM
midbrain: 11 nTPM
spinal cord: 11 nTPM

Single-cell type

enterocytes: 88 nCPM
retinal ganglion cells: 39 nCPM
gonadotrophs: 33 nCPM
brain excitatory neurons: 29 nCPM
brain inhibitory neurons: 28 nCPM
retinal amacrine cells: 27 nCPM

Immune cell

neutrophil: 1.6 nTPM
NK-cell: 0.7 nTPM
basophil: 0.6 nTPM
eosinophil: 0.5 nTPM
classical monocyte: 0.4 nTPM
intermediate monocyte: 0.4 nTPM

Brain region

pons: 60 nTPM
cerebral cortex: 47 nTPM
medulla oblongata: 46 nTPM
cerebellum: 36 nTPM
white matter: 35 nTPM
thalamus: 34 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PDZD7.

Disease | AllUniProt

Conditions PDZD7 is implicated in, by any mechanism.

Deafness, autosomal recessive, 57 (DFNB57) MIM:618003
Usher syndrome 2C (USH2C) MIM:605472
Usher syndrome 2A (USH2A) MIM:276901

Disease | GeneticClinVar

104 pathogenic / likely-pathogenic of 1,130 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hearing loss, autosomal recessive 57
PDZD7-related disorder
Usher syndrome type 2C
Hearing loss, autosomal recessive
Usher syndrome type 2A

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): 1.13
gnomAD pLI: 0
gnomAD missense Z: -0.37
DepMap mean gene effect: -0.1
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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PDZD7 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 PDZD7 as an antibody target. Whether an autoantibody or antibody against PDZD7 could matter depends on whether native PDZD7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PDZD7 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 PDZD7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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