Pde6h MGI Mouse Gene Detail - MGI:1925850 - phosphodiesterase 6H, cGMP-specific, cone, gamma

Symbol

Pde6h
Name

phosphodiesterase 6H, cGMP-specific, cone, gamma
Synonyms

A930033D18Rik, PDEgamma

Feature Type

protein coding gene
IDs

MGI:1925850
NCBI Gene: 78600
Alliance

genome feature page
Transcription Start Sites

1 TSS

Sequence Map

Chr6:136929216-136940483 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 66.72 cM
Mapping Data

1 experiment

SNPs within 2kb

462 from dbSNP Build 142
Strain Annotations

17

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1925850	protein coding gene	Chr6:136900830-136945863 (+)
129S1/SvImJ	ENSMUSG00200030851	protein coding gene	Chr6:134449616-134496897 (+)
A/J	ENSMUSG00195007436	protein coding gene	Chr6:133301255-133348551 (+)
AKR/J	ENSMUSG00220034571	protein coding gene	Chr6:131529338-131576639 (+)
BALB/cJ	ENSMUSG00180016445	protein coding gene	Chr6:133410481-133455637 (+)
C3H/HeJ	ENSMUSG00175033167	protein coding gene	Chr6:133321386-133368609 (+)
C57BL/6NJ	ENSMUSG00215020146	protein coding gene	Chr6:133537780-133583247 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029005	protein coding gene	Chr6:134933384-134980891 (+)
CAST/EiJ	ENSTCUG00005032956	protein coding gene	Chr6:134236477-134283791 (+)
CBA/J	ENSMUSG00210003621	protein coding gene	Chr6:133373731-133420956 (+)
DBA/2J	ENSMUSG00185021386	protein coding gene	Chr6:134036031-134083255 (+)
FVB/NJ	ENSMUSG00205028404	protein coding gene	Chr6:132527203-132572361 (+)
JF1/MsJ	ENSUMUG00000024764	protein coding gene	Chr6:132718139-132763615 (+)
LP/J	no annotation
NOD/ShiLtJ	ENSMUSG00190006448	protein coding gene	Chr6:133874219-133921512 (+)
NZO/HlLtJ	ENSMUSG00225007009	protein coding gene	Chr6:137956223-138113764 (+)
PWK/PhJ	ENSLUMG00010040717	protein coding gene	Chr6:131820463-131865973 (+)
SPRET/EiJ	no annotation
WSB/EiJ	ENSIUOG00005019723	protein coding gene	Chr6:134191224-134238480 (+)

Human Ortholog

PDE6H, phosphodiesterase 6H

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PDE6H, phosphodiesterase 6H
Synonyms

ACHM6, RCD3
Links

HGNC:8790

NCBI Gene ID: 5149

UniProt: Q13956
Chr Location

12p12.3; chr12:14973042-14981865 (+) GRCh38

MGI Vertebrate Homology

Pde6h stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PDE6H
Protein SuperFamily

35-cGMP_Pdiase_g
Gene Tree

Pde6h

Diseases

1 with human PDE6H associations

				Human Disease	Mouse Models
				achromatopsia 6 IDs achromatopsia 6 DOID:0081025 MESH:C566483 OMIM:610024

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
4 phenotype references

All Mutations and Alleles

7
Endonuclease-mediated

2
Gene trapped

4
Targeted

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

11 strains or lines available

Homozygous mutation of this gene does not affect the retina or photoreceptor function.

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All GO Annotations

15
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

708
Tissues

97
cDNA Data

10
Literature Summary

8

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pde6h

ZFIN pde6ha

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All Sequences

42
RefSeq

4
UniProt

3
CCDS

CCDS39686.1

Ensembl

ENSMUSG00000064330 (Evidence)
NCBI Gene

78600

			Length	Strain/Species	Flank
genomic	78600	NCBI Gene Model \| MGI Sequence Detail	11268	C57BL/6J	± kb
transcript	NM_023898	RefSeq \| MGI Sequence Detail	574	C57BL/6
polypeptide	P61249	UniProt \| EBI \| MGI Sequence Detail	83	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012483 retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

(term hierarchy)
PDB

9CXG
EC

3.1.4.35
InterPro Domains

IPR006952 Retinal cGMP phosphodiesterase, gamma subunit

IPR037030 Retinal cGMP phosphodiesterase, gamma subunit superfamily
GlyGen

P61249 1 site

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All nucleic 11

cDNA 10

Primer pair 1

Microarray probesets 3

Summaries

All 41

Developmental Gene Expression 8

Gene Ontology 8

Phenotypes 4
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:388767 Moakedi F, et al., Prenylation is essential for the enrichment of cone phosphodiesterase-6 (PDE6) in outer segments and efficient cone phototransduction. Hum Mol Genet. 2023 Aug 26;32(17):2735-2750

TSS for Pde6h:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr59353	Chr6:136931519-136931527 (+)	2,307 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/08/2026 MGI 6.24