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

gene 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

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1925850	protein coding gene	Chr6:136900830-136945863 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031433	protein coding gene	Chr6:141437653-141487822 (+)
A/J	MGP_AJ_G0031408	protein coding gene	Chr6:135819490-135866609 (+)
AKR/J	MGP_AKRJ_G0031336	protein coding gene	Chr6:139953678-140006400 (+)
BALB/cJ	MGP_BALBcJ_G0031415	protein coding gene	Chr6:135698198-135747065 (+)
C3H/HeJ	MGP_C3HHeJ_G0031137	protein coding gene	Chr6:139984920-140035640 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0031877	protein coding gene	Chr6:145268477-145317891 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029005	protein coding gene	Chr6:134933384-134980891 (+)
CAST/EiJ	MGP_CASTEiJ_G0030505	protein coding gene	Chr6:139497073-139546473 (+)
CBA/J	MGP_CBAJ_G0031097	protein coding gene	Chr6:150711031-150772373 (+)
DBA/2J	MGP_DBA2J_G0031254	protein coding gene	Chr6:134694041-134746785 (+)
FVB/NJ	MGP_FVBNJ_G0031205	protein coding gene	Chr6:133593997-133642000 (+)
LP/J	MGP_LPJ_G0031338	protein coding gene	Chr6:141541279-141594056 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031245	protein coding gene	Chr6:154591887-154641192 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031909	protein coding gene	Chr6:139698049-139745023 (+)
PWK/PhJ	MGP_PWKPhJ_G0030232	protein coding gene	Chr6:133191755-133237740 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0030056	protein coding gene	Chr6:137959899-138024178 (+)
WSB/EiJ	MGP_WSBEiJ_G0030598	protein coding gene	Chr6:140339514-140390727 (+)

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

neXtProt AC: NX_Q13956

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
				retinal cone dystrophy 3A IDs retinal cone dystrophy 3A 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

6
Endonuclease-mediated

1
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

10
GO References

5

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

815
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

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All Sequences

44
RefSeq

4
UniProt

4
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

4 Sequences
Protein Ontology

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

(term hierarchy)
EC

3.1.4.35
InterPro Domains

IPR006952 Retinal cGMP phosphodiesterase, gamma subunit

IPR037030 Retinal cGMP phosphodiesterase, gamma subunit superfamily

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All nucleic 11

cDNA 10

Primer pair 1

Microarray probesets 3

Summaries

All 37

Developmental Gene Expression 8

Gene Ontology 5

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:274446 Wei W, et al., Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development. Mol Neurobiol. 2019 Mar;56(3):1719-1736

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)
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