Seroatlas · Human Serome Atlas

PDZD8

PDZ domain-containing protein 8

Also known as: bA129M16.2, FLJ34427, PDZD8_HUMAN, PDZK8

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

Protein identityUniProt · HPA

UniProt accession: Q8NEN9
Gene: PDZD8
Ensembl: ENSG00000165650
Chromosome: 10
Canonical length: 1154 aa
Protein class: Predicted intracellular proteins, Transporters
Subcellular location: Nucleoli fibrillar center,Plasma membrane

OverviewNCBI Gene

Predicted to enable lipid binding activity and zinc ion binding activity. Involved in several processes, including mitochondrial calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and regulation of cell morphogenesis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane contact site. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1154 residues, UniProt reviewed canonical sequence.

>Q8NEN9|PDZD8
     1  MGLLLMILAS AVLGSFLTLL AQFFLLYRRQ PEPPADEAAR AGEGFRYIKP VPGLLLREYL
    61  YGGGRDEEPS GAAPEGGATP TAAPETPAPP TRETCYFLNA TILFLFRELR DTALTRRWVT
   121  KKIKVEFEEL LQTKTAGRLL EGLSLRDVFL GETVPFIKTI RLVRPVVPSA TGEPDGPEGE
   181  ALPAACPEEL AFEAEVEYNG GFHLAIDVDL VFGKSAYLFV KLSRVVGRLR LVFTRVPFTH
   241  WFFSFVEDPL IDFEVRSQFE GRPMPQLTSI IVNQLKKIIK RKHTLPNYKI RFKPFFPYQT
   301  LQGFEEDEEH IHIQQWALTE GRLKVTLLEC SRLLIFGSYD REANVHCTLE LSSSVWEEKQ
   361  RSSIKTVELI KGNLQSVGLT LRLVQSTDGY AGHVIIETVA PNSPAAIADL QRGDRLIAIG
   421  GVKITSTLQV LKLIKQAGDR VLVYYERPVG QSNQGAVLQD NFGQLEENFL SSSCQSGYEE
   481  EAAGLTVDTE SRELDSEFED LASDVRAQNE FKDEAQSLSH SPKRVPTTLS IKPLGAISPV
   541  LNRKLAVGSH PLPPKIQSKD GNKPPPLKTS EITDPAQVSK PTQGSAFKPP VPPRPQAKVP
   601  LPSADAPNQA EPDVLVEKPE KVVPPPLVDK SAEKQAKNVD AIDDAAAPKQ FLAKQEVAKD
   661  VTSETSCPTK DSSDDRQTWE SSEILYRNKL GKWTRTRASC LFDIEACHRY LNIALWCRDP
   721  FKLGGLICLG HVSLKLEDVA LGCLATSNTE YLSKLRLEAP SPKAIVTRTA LRNLSMQKGF
   781  NDKFCYGDIT IHFKYLKEGE SDHHVVTNVE KEKEPHLVEE VSVLPKEEQF VGQMGLTENK
   841  HSFQDTQFQN PTWCDYCKKK VWTKAASQCM FCAYVCHKKC QEKCLAETSV CGATDRRIDR
   901  TLKNLRLEGQ ETLLGLPPRV DAEASKSVNK TTGLTRHIIN TSSRLLNLRQ VSKTRLSEPG
   961  TDLVEPSPKH TPNTSDNEGS DTEVCGPNSP SKRGNSTGIK LVRKEGGLDD SVFIAVKEIG
  1021  RDLYRGLPTE ERIQKLEFML DKLQNEIDQE LEHNNSLVRE EKETTDTRKK SLLSAALAKS
  1081  GERLQALTLL MIHYRAGIED IETLESLSLD QHSKKISKYT DDTEEDLDNE ISQLIDSQPF
  1141  SSISDDLFGP SESV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PDZD8 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: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.48
Highest tissue expression: 69 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 69 nTPM
parathyroid gland: 27 nTPM
liver: 15 nTPM
epididymis: 13 nTPM
pancreas: 13 nTPM
duodenum: 13 nTPM

Single-cell type

neutrophil progenitors: 1,267 nCPM
megakaryocyte-erythroid progenitors: 1,099 nCPM
late spermatids: 882 nCPM
neutrophils: 671 nCPM
megakaryocyte progenitors: 487 nCPM
erythrocyte progenitors: 439 nCPM

Immune cell

eosinophil: 2.6 nTPM
neutrophil: 2.3 nTPM
basophil: 1.4 nTPM
NK-cell: 1.1 nTPM
MAIT T-cell: 0.9 nTPM
non-classical monocyte: 0.9 nTPM

Brain region

choroid plexus: 44 nTPM
cerebellum: 39 nTPM
midbrain: 36 nTPM
white matter: 33 nTPM
thalamus: 32 nTPM
pons: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PDZD8.

Disease | AllUniProt

Conditions PDZD8 is implicated in, by any mechanism.

Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) MIM:620021

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 166 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual developmental disorder with autism and dysmorphic facies

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): 0.2
gnomAD pLI: 1
gnomAD missense Z: 1.57
DepMap mean gene effect: 0
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

PDZ domain
Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
Synaptotagmin-like mitochondrial-lipid-binding domain
PDZ superfamily
PDZ domain 6
C1-like domain superfamily
Phorbol esters/diacylglycerol binding domain (C1 domain)
PDZ domain
PDZ domain-containing protein 8
PDZD8, N-terminal domain
PDZD8 N-terminal TULIPs domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PDZD8 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 PDZD8 as an antibody target. Whether an autoantibody or antibody against PDZD8 could matter depends on whether native PDZD8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PDZD8 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 PDZD8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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