Seroatlas · Human Serome Atlas

RD3

Protein RD3

Also known as: C1orf36, LCA12, RD3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q7Z3Z2
Gene
RD3
Ensembl
ENSG00000198570
Chromosome
1
Canonical length
195 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

195 residues, UniProt reviewed canonical sequence.

>Q7Z3Z2|RD3
     1  MSLISWLRWN EAPSRLSTRS PAEMVLETLM MELTGQMREA ERQQRERSNA VRKVCTGVDY
    61  SWLASTPRST YDLSPIERLQ LEDVCVKIHP SYCGPAILRF RQLLAEQEPE VQEVSQLFRS
   121  VLQEVLERMK QEEEAHKLTR QWSLRPRGSL ATFKTRARIS PFASDIRTIS EDVERDTPPP
   181  LRSWSMPEFR APKAD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RD3 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)
0.47
Highest tissue expression
44 nTPM

Expression across tissuesHPA

Tissue

  • retina: 44 nTPM
  • choroid plexus: 1.6 nTPM
  • adrenal gland: 0.6 nTPM
  • epididymis: 0.6 nTPM
  • pituitary gland: 0.4 nTPM
  • endometrium: 0.3 nTPM

Single-cell type

  • cone photoreceptor cells: 265 nCPM
  • retinal bipolar cells: 185 nCPM
  • rod photoreceptor cells: 176 nCPM
  • mast cells: 53 nCPM
  • thyrotrophs: 13 nCPM
  • adrenal medulla cells: 11 nCPM

Immune cell

  • eosinophil: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 3.1 nTPM
  • hypothalamus: 2.9 nTPM
  • cerebellum: 2.8 nTPM
  • basal ganglia: 1.8 nTPM
  • hippocampal formation: 1.8 nTPM
  • amygdala: 1.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RD3.

Disease | AllUniProt

Conditions RD3 is implicated in, by any mechanism.

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 252 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.73
gnomAD pLI
0
gnomAD missense Z
0.61
DepMap mean gene effect
0.07
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RD3 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 RD3 as an antibody target. Whether an autoantibody or antibody against RD3 could matter depends on whether native RD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RD3 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 RD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RD3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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