Seroatlas · Human Serome Atlas

PDE6H

Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

Also known as: CNCG_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q13956
Gene: PDE6H
Ensembl: ENSG00000139053
Chromosome: 12
Canonical length: 83 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Vesicles

OverviewNCBI Gene

This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

83 residues, UniProt reviewed canonical sequence.

>Q13956|PDE6H
     1  MSDNTTLPAP ASNQGPTTPR KGPPKFKQRQ TRQFKSKPPK KGVKGFGDDI PGMEGLGTDI
    61  TVICPWEAFS HLELHELAQF GII

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PDE6H 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.6
Highest tissue expression: 844 nTPM

Expression across tissuesHPA

Tissue

retina: 844 nTPM
choroid plexus: 10 nTPM
bone marrow: 3.8 nTPM
cerebral cortex: 1.3 nTPM
placenta: 0.8 nTPM
hypothalamus: 0.7 nTPM

Single-cell type

cone photoreceptor cells: 2,261 nCPM
extravillous trophoblasts: 37 nCPM
rod photoreceptor cells: 35 nCPM
retinal bipolar cells: 11 nCPM
platelets: 9.9 nCPM
müller glia: 7.9 nCPM

Immune cell

total PBMC: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

hypothalamus: 4.5 nTPM
choroid plexus: 1.9 nTPM
cerebral cortex: 1.5 nTPM
pons: 1 nTPM
white matter: 1 nTPM
midbrain: 0.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PDE6H.

Disease | AllUniProt

Conditions PDE6H is implicated in, by any mechanism.

Achromatopsia 6 (ACHM6) MIM:610024

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): 1.81
gnomAD pLI: 0.01
gnomAD missense Z: 0.19
DepMap mean gene effect: 0.01
DepMap dependency class: selective

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

Cellular components

photoreceptor outer segment membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PDE6H as an antibody target. Whether an autoantibody or antibody against PDE6H could matter depends on whether native PDE6H is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PDE6H 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 PDE6H as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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