Pde6h (phosphodiesterase 6H) - Rat Genome Database

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Gene: Pde6h (phosphodiesterase 6H) Heterocephalus glaber
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Symbol: Pde6h
Name: phosphodiesterase 6H
RGD ID: 18936277
Description: ENCODES a protein that exhibits 3',5'-cyclic-nucleotide phosphodiesterase activity (inferred); cGMP binding (inferred); hydrolase activity (inferred); INVOLVED IN positive regulation of epidermal growth factor receptor signaling pathway (ortholog); positive regulation of G protein-coupled receptor signaling pathway (ortholog); positive regulation of MAPK cascade (ortholog); PARTICIPATES IN visual phototransduction pathway; ASSOCIATED WITH autosomal dominant intellectual developmental disorder 6 (ortholog); color blindness (ortholog); cone-rod dystrophy 14 (ortholog); FOUND IN photoreceptor outer segment membrane (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Latest Assembly: HetGla 1.0 - Naked Mole-Rat female 1.0 Assembly
Position:
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475223,051,752 - 23,055,103 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475223,051,486 - 23,055,128 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Pde6hNaked Mole-Ratautosomal dominant intellectual developmental disorder 6  ISORGD:13532418554872ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6ClinVarPMID:28492532
Pde6hNaked Mole-Ratcone-rod dystrophy 14  ISORGD:13532418554872ClinVar Annotator: match by term: Cone dystrophy 3ClinVar 
Pde6hNaked Mole-Ratfundus dystrophy  ISORGD:13532418554872ClinVar Annotator: match by term: Retinal dystrophyClinVarPMID:22901948|PMID:25741868|PMID:27472364|PMID:27479814|PMID:28492532|PMID:31429209|PMID:31589614|PMID:31964843|PMID:34315337|PMID:35567543
Pde6hNaked Mole-Ratretinal cone dystrophy 3A  ISORGD:13532418554872ClinVar Annotator: match by term: Retinal cone dystrophy 3AClinVarPMID:15629837|PMID:22901948|PMID:25741868|PMID:27472364|PMID:27479814|PMID:28492532|PMID:31429209|PMID:31589614|PMID:31964843|PMID:34315337|PMID:35567543
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Pde6hNaked Mole-Ratcolor blindness  ISORGD:13532419068941CTD Direct Evidence: marker/mechanismCTDPMID:25739440
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Pde6hNaked Mole-Ratretinal cone dystrophy 3A  ISORGD:13532417240710 OMIM 


Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Pde6hNaked Mole-Ratpositive regulation of epidermal growth factor receptor signaling pathway acts_upstream_of_or_withinISORGD:15519559068941 PMID:11502744MGIPMID:11502744
Pde6hNaked Mole-Ratpositive regulation of epidermal growth factor receptor signaling pathway involved_inIEAPANTHER:PTN000252188150520179 TreeGrafterGO_REF:0000118
Pde6hNaked Mole-Ratpositive regulation of G protein-coupled receptor signaling pathway involved_inIEAPANTHER:PTN000252188150520179 TreeGrafterGO_REF:0000118
Pde6hNaked Mole-Ratpositive regulation of G protein-coupled receptor signaling pathway acts_upstream_of_or_withinISORGD:15519559068941 PMID:11502744MGIPMID:11502744
Pde6hNaked Mole-Ratpositive regulation of MAPK cascade acts_upstream_of_or_withinISORGD:15519559068941 PMID:11502744MGIPMID:11502744
Pde6hNaked Mole-Ratvisual perception involved_inIEAUniProtKB-KW:KW-0844150520179 UniProtGO_REF:0000043
Pde6hNaked Mole-Ratvisual perception involved_inIEAInterPro:IPR006952|InterPro:IPR037030150520179 InterProGO_REF:0000002

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Pde6hNaked Mole-Ratphotoreceptor outer segment membrane located_inIEAPANTHER:PTN000252188150520179 TreeGrafterGO_REF:0000118

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Pde6hNaked Mole-Rat3',5'-cyclic-nucleotide phosphodiesterase activity enablesIEAInterPro:IPR006952|InterPro:IPR037030150520179 InterProGO_REF:0000002
Pde6hNaked Mole-RatcGMP binding enablesIEAInterPro:IPR006952|InterPro:IPR037030150520179 InterProGO_REF:0000002
Pde6hNaked Mole-Rathydrolase activity enablesIEAUniProtKB-KW:KW-0378150520179 UniProtGO_REF:0000043
Pde6hNaked Mole-Ratprotein binding enablesISOUniProtKB:Q14019|UniProtKB:Q6NUP59068941 PMID:25416956IntActPMID:25416956
Pde6hNaked Mole-Ratprotein binding enablesISOUniProtKB:O43741|UniProtKB:P784249068941 PMID:32296183IntActPMID:32296183
Pde6hNaked Mole-Ratprotein binding enablesISOUniProtKB:P22607|UniProtKB:P28329-3|UniProtKB:Q9UMX09068941 PMID:32814053IntActPMID:32814053

RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Pde6hNaked Mole-Ratvisual phototransduction pathway   ISORGD:13532419068941 RGDPMID:15224133|REF_RGD_ID:6893540
PMID:22301074   PMID:30032202  



Pde6h
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475223,051,752 - 23,055,103 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475223,051,486 - 23,055,128 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2
PDE6H
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381214,973,042 - 14,981,865 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1214,973,042 - 14,981,865 (+)EnsemblGRCh38hg38GRCh38
GRCh371215,125,976 - 15,134,799 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361215,017,245 - 15,026,066 (+)NCBINCBI36Build 36hg18NCBI36
Build 341215,017,244 - 15,026,066NCBI
Celera1220,270,954 - 20,279,795 (+)NCBICelera
Cytogenetic Map12p12.3NCBI
HuRef1214,895,337 - 14,904,178 (+)NCBIHuRef
CHM1_11215,092,057 - 15,100,898 (+)NCBICHM1_1
T2T-CHM13v2.01214,850,375 - 14,859,197 (+)NCBIT2T-CHM13v2.0
Pde6h
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396136,929,216 - 136,940,483 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6136,900,830 - 136,945,863 (+)EnsemblGRCm39 Ensembl
GRCm386136,952,218 - 136,963,485 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6136,923,832 - 136,968,865 (+)EnsemblGRCm38mm10GRCm38
MGSCv376136,903,044 - 136,912,004 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366136,918,719 - 136,927,678 (+)NCBIMGSCv36mm8
Celera6139,997,648 - 140,006,582 (+)NCBICelera
Cytogenetic Map6G1NCBI
cM Map666.72NCBI
Pde6h
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84171,588,896 - 171,604,142 (+)NCBIGRCr8
mRatBN7.24169,857,793 - 169,872,969 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4169,857,812 - 169,872,969 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4176,164,525 - 176,169,238 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04171,944,657 - 171,949,411 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04170,570,202 - 170,574,915 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04170,947,723 - 170,963,046 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4170,958,196 - 170,963,046 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04235,204,371 - 235,219,664 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44174,009,860 - 174,014,405 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14174,254,983 - 174,259,529 (+)NCBI
Celera4158,449,142 - 158,453,876 (+)NCBICelera
Cytogenetic Map4q43NCBI
Pde6h
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541311,703,378 - 11,712,075 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541311,654,252 - 11,711,799 (+)NCBIChiLan1.0ChiLan1.0
PDE6H
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21020,254,398 - 20,430,243 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11220,285,815 - 20,427,004 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01214,890,192 - 14,984,542 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11215,372,413 - 15,381,249 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1215,372,413 - 15,381,249 (+)Ensemblpanpan1.1panPan2
PDE6H
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12731,640,731 - 31,664,494 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2731,640,737 - 31,664,401 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2714,784,654 - 14,808,356 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02731,947,405 - 31,970,923 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2731,947,411 - 31,970,880 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12731,836,788 - 31,860,326 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02731,795,045 - 31,818,763 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02714,516,903 - 14,540,640 (+)NCBIUU_Cfam_GSD_1.0
Pde6h
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494592,778,204 - 92,786,504 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365872,506,585 - 2,514,157 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365872,505,755 - 2,514,103 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDE6H
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl557,556,149 - 57,594,423 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1557,555,448 - 57,582,324 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2560,944,506 - 60,978,007 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PDE6H
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11114,869,864 - 14,880,307 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1114,870,498 - 14,880,324 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606920,430,389 - 20,439,864 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

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RefSeq Transcripts XM_004845826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AHKG01033203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSHGLT00000023280   ⟹   ENSHGLP00000023065
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla_female_1.0 EnsemblNW_00462475223,051,752 - 23,055,103 (-)Ensembl
Ensembl Acc Id: ENSHGLT00000023281   ⟹   ENSHGLP00000023066
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla_female_1.0 EnsemblNW_00462475223,051,777 - 23,055,103 (-)Ensembl
RefSeq Acc Id: XM_004845826   ⟹   XP_004845883
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_00462475223,051,486 - 23,055,128 (-)NCBI
Protein RefSeqs XP_004845883 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSHGLP00000023065
RefSeq Acc Id: XP_004845883   ⟸   XM_004845826
- UniProtKB: A0AAX6P8K2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSHGLP00000023066   ⟸   ENSHGLT00000023281
Ensembl Acc Id: ENSHGLP00000023065   ⟸   ENSHGLT00000023280



1 to 11 of 11 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSHGLG00000016447 Ensembl, ENTREZGENE
Ensembl Transcript ENSHGLT00000023280 ENTREZGENE
Gene3D-CATH Retinal cGMP phosphodiesterase, gamma subunit UniProtKB/TrEMBL
InterPro PDE6_gamma UniProtKB/TrEMBL
  PDE6_gamma_sf UniProtKB/TrEMBL
NCBI Gene Pde6h ENTREZGENE
PANTHER RETINAL CONE RHODOPSIN-SENSITIVE CGMP 3',5'-CYCLIC PHOSPHODIESTERASE GAMMA-SUBUNIT-RELATED UniProtKB/TrEMBL
  RETINAL CONE RHODOPSIN-SENSITIVE CGMP 3',5'-CYCLIC PHOSPHODIESTERASE SUBUNIT GAMMA UniProtKB/TrEMBL
Pfam PDE6_gamma UniProtKB/TrEMBL
PIRSF 35-cGMP_Pdiase_g UniProtKB/TrEMBL
UniProt A0AAX6P8K2 ENTREZGENE, UniProtKB/TrEMBL
1 to 11 of 11 rows