PDE6H (phosphodiesterase 6H) - Rat Genome Database

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Gene: PDE6H (phosphodiesterase 6H) Homo sapiens
Analyze
Symbol: PDE6H
Name: phosphodiesterase 6H
RGD ID: 1353241
HGNC Page HGNC
Description: Predicted to have enzyme inhibitor activity. Predicted to be involved in activation of MAPK activity; positive regulation of G protein-coupled receptor signaling pathway; and positive regulation of epidermal growth factor receptor signaling pathway. Predicted to localize to photoreceptor outer segment membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACHM6; GMP-PDE gamma; phosphodiesterase 6H, cGMP-specific, cone, gamma; RCD3; retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1214,973,042 - 14,981,865 (+)EnsemblGRCh38hg38GRCh38
GRCh381214,973,042 - 14,981,865 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371215,125,976 - 15,134,799 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361215,017,245 - 15,026,066 (+)NCBINCBI36hg18NCBI36
Build 341215,017,244 - 15,026,066NCBI
Celera1220,270,954 - 20,279,795 (+)NCBI
Cytogenetic Map12p12.3NCBI
HuRef1214,895,337 - 14,904,178 (+)NCBIHuRef
CHM1_11215,092,057 - 15,100,898 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2162841   PMID:8786098   PMID:8889548   PMID:12372317   PMID:12477932   PMID:15215290   PMID:15489334   PMID:15629837   PMID:17207965   PMID:17286855   PMID:20301591   PMID:20379614  
PMID:21832049   PMID:21873635   PMID:22901948   PMID:25416956   PMID:27591049   PMID:30021884   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
PDE6H
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1214,973,042 - 14,981,865 (+)EnsemblGRCh38hg38GRCh38
GRCh381214,973,042 - 14,981,865 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371215,125,976 - 15,134,799 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361215,017,245 - 15,026,066 (+)NCBINCBI36hg18NCBI36
Build 341215,017,244 - 15,026,066NCBI
Celera1220,270,954 - 20,279,795 (+)NCBI
Cytogenetic Map12p12.3NCBI
HuRef1214,895,337 - 14,904,178 (+)NCBIHuRef
CHM1_11215,092,057 - 15,100,898 (+)NCBICHM1_1
Pde6h
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396136,929,216 - 136,940,483 (+)NCBIGRCm39mm39
GRCm39 Ensembl6136,900,830 - 136,945,863 (+)Ensembl
GRCm386136,952,218 - 136,963,485 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6136,923,832 - 136,968,865 (+)EnsemblGRCm38mm10GRCm38
MGSCv376136,903,044 - 136,912,004 (+)NCBIGRCm37mm9NCBIm37
MGSCv366136,918,719 - 136,927,678 (+)NCBImm8
Celera6139,997,648 - 140,006,582 (+)NCBICelera
Cytogenetic Map6G1NCBI
Pde6h
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24169,857,793 - 169,872,969 (+)NCBI
Rnor_6.0 Ensembl4170,958,196 - 170,963,046 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.04170,947,723 - 170,963,046 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04235,204,371 - 235,219,664 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44174,009,860 - 174,014,405 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.11215,372,413 - 15,381,249 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1215,372,413 - 15,381,249 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01214,890,192 - 14,984,542 (+)NCBIMhudiblu_PPA_v0panPan3
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 (+)NCBI
ROS_Cfam_1.02731,947,405 - 31,970,923 (-)NCBI
UMICH_Zoey_3.12731,836,788 - 31,860,326 (-)NCBI
UNSW_CanFamBas_1.02731,795,045 - 31,818,763 (-)NCBI
UU_Cfam_GSD_1.02714,516,903 - 14,540,640 (+)NCBI
Pde6h
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494592,778,204 - 92,786,504 (-)NCBI
SpeTri2.0NW_0049365872,505,755 - 2,514,103 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDE6H
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1557,555,448 - 57,582,324 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2560,944,506 - 60,978,007 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PDE6H
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11114,869,864 - 14,880,307 (+)NCBI
ChlSab1.1 Ensembl1114,870,498 - 14,880,324 (+)Ensembl
Vero_WHO_p1.0NW_02366606920,430,389 - 20,439,864 (-)NCBI
Pde6h
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475223,051,486 - 23,055,128 (-)NCBI

Position Markers
PDE6H_3028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,134,236 - 15,134,820UniSTSGRCh37
Build 361215,025,503 - 15,026,087RGDNCBI36
Celera1220,279,232 - 20,279,816RGD
HuRef1214,903,615 - 14,904,199UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:205
Count of miRNA genes:133
Interacting mature miRNAs:135
Transcripts:ENST00000266395
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1 1
Medium 2 1 1 1 1 1 1
Low 6 365 69 3 534 3 45 5 1141 6 36 104 1 24 17 1
Below cutoff 605 1108 674 129 767 90 1164 466 1616 151 600 737 43 479 746 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000266395   ⟹   ENSP00000266395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1214,973,042 - 14,981,865 (+)Ensembl
RefSeq Acc Id: NM_006205   ⟹   NP_006196
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,973,042 - 14,981,865 (+)NCBI
GRCh371215,125,956 - 15,134,799 (+)RGD
Build 361215,017,245 - 15,026,066 (+)NCBI Archive
Celera1220,270,954 - 20,279,795 (+)RGD
HuRef1214,895,337 - 14,904,178 (+)RGD
CHM1_11215,092,057 - 15,100,898 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019431   ⟹   XP_016874920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,977,664 - 14,981,865 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006196   ⟸   NM_006205
- UniProtKB: Q13956 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874920   ⟸   XM_017019431
- Peptide Label: isoform X1
- UniProtKB: Q13956 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000266395   ⟸   ENST00000266395

Promoters
RGD ID:7223317
Promoter ID:EPDNEW_H17404
Type:multiple initiation site
Name:PDE6H_1
Description:phosphodiesterase 6H
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,973,042 - 14,973,102EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
PDE6H, -29G-C, 5-PRIME UTR single nucleotide variant Retinal cone dystrophy 3A [RCV000008867] Chr12:12p13 pathogenic
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) single nucleotide variant Achromatopsia 6 [RCV000030807]|PDE6H-Related Disorders [RCV000779093]|Retinal cone dystrophy 3A [RCV000055928]|not provided [RCV001092385] Chr12:14978047 [GRCh38]
Chr12:15130981 [GRCh37]
Chr12:12p12.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1 copy number loss See cases [RCV000052780] Chr12:12388842..15540422 [GRCh38]
Chr12:12541776..15693356 [GRCh37]
Chr12:12433043..15584623 [NCBI36]
Chr12:12p13.2-12.3
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_006205.2(PDE6H):c.26C>T (p.Ala9Val) single nucleotide variant Malignant melanoma [RCV000062459] Chr12:14978038 [GRCh38]
Chr12:15130972 [GRCh37]
Chr12:15022239 [NCBI36]
Chr12:12p12.3
not provided
NM_006205.3(PDE6H):c.135A>G (p.Gly45=) single nucleotide variant not provided [RCV001303251] Chr12:14979179 [GRCh38]
Chr12:15132113 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1 copy number loss See cases [RCV000135331] Chr12:12363649..15280588 [GRCh38]
Chr12:12514722..15433522 [GRCh37]
Chr12:12405989..15324789 [NCBI36]
Chr12:12p13.2-12.3
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1 copy number loss See cases [RCV000142882] Chr12:11121039..15908154 [GRCh38]
Chr12:11273638..16061088 [GRCh37]
Chr12:11164905..15952355 [NCBI36]
Chr12:12p13.2-12.3
likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
chr12:10074776-18800953 complex variant complex Ductal breast carcinoma [RCV000207105] Chr12:10074776..18800953 [GRCh37]
Chr12:12p13.31-12.3
uncertain significance
GRCh37/hg19 12p12.3(chr12:15034827-15677320)x1 copy number loss See cases [RCV000240366] Chr12:15034827..15677320 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_006205.3(PDE6H):c.-29G>C single nucleotide variant Retinal cone dystrophy 3A [RCV000301976] Chr12:14977984 [GRCh38]
Chr12:15130918 [GRCh37]
Chr12:12p12.3
likely benign
NM_006205.3(PDE6H):c.*358T>G single nucleotide variant Retinal cone dystrophy 3A [RCV000263593] Chr12:14981834 [GRCh38]
Chr12:15134768 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.-59G>C single nucleotide variant Retinal cone dystrophy 3A [RCV000390631] Chr12:14973069 [GRCh38]
Chr12:15126003 [GRCh37]
Chr12:12p12.3
benign
NM_006205.3(PDE6H):c.*369A>G single nucleotide variant Retinal cone dystrophy 3A [RCV000318780] Chr12:14981845 [GRCh38]
Chr12:15134779 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.2(PDE6H):c.-102G>T single nucleotide variant Cone dystrophy 3 [RCV000341610] Chr12:14973026 [GRCh38]
Chr12:15125960 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.195A>G (p.Pro65=) single nucleotide variant Retinal cone dystrophy 3A [RCV000365089] Chr12:14981419 [GRCh38]
Chr12:15134353 [GRCh37]
Chr12:12p12.3
benign
NM_006205.3(PDE6H):c.*319T>C single nucleotide variant Retinal cone dystrophy 3A [RCV000367589] Chr12:14981795 [GRCh38]
Chr12:15134729 [GRCh37]
Chr12:12p12.3
benign|likely benign
NM_006205.3(PDE6H):c.*71C>T single nucleotide variant Retinal cone dystrophy 3A [RCV000306840] Chr12:14981547 [GRCh38]
Chr12:15134481 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.*301A>G single nucleotide variant Retinal cone dystrophy 3A [RCV000331500] Chr12:14981777 [GRCh38]
Chr12:15134711 [GRCh37]
Chr12:12p12.3
benign|likely benign
NM_006205.3(PDE6H):c.*134G>A single nucleotide variant Retinal cone dystrophy 3A [RCV000276476] Chr12:14981610 [GRCh38]
Chr12:15134544 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.*77C>G single nucleotide variant Retinal cone dystrophy 3A [RCV000370889] Chr12:14981553 [GRCh38]
Chr12:15134487 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.*47G>C single nucleotide variant Retinal cone dystrophy 3A [RCV000395604] Chr12:14981523 [GRCh38]
Chr12:15134457 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.247A>C (p.Ile83Leu) single nucleotide variant not provided [RCV000520860] Chr12:14981471 [GRCh38]
Chr12:15134405 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NM_006205.3(PDE6H):c.-73C>A single nucleotide variant Retinal cone dystrophy 3A [RCV001113860] Chr12:14973055 [GRCh38]
Chr12:15125989 [GRCh37]
Chr12:12p12.3
benign
NM_006205.3(PDE6H):c.-42C>T single nucleotide variant Retinal cone dystrophy 3A [RCV001113861] Chr12:14973086 [GRCh38]
Chr12:15126020 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.72C>G (p.Pro24=) single nucleotide variant not provided [RCV000942280] Chr12:14978084 [GRCh38]
Chr12:15131018 [GRCh37]
Chr12:12p12.3
likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1 copy number loss not provided [RCV001006482] Chr12:11737824..16780886 [GRCh37]
Chr12:12p13.2-12.3
pathogenic
NM_006205.3(PDE6H):c.214C>A (p.Leu72Met) single nucleotide variant not provided [RCV001238301] Chr12:14981438 [GRCh38]
Chr12:15134372 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_006205.3(PDE6H):c.141A>T (p.Gly47=) single nucleotide variant not provided [RCV001244428] Chr12:14979185 [GRCh38]
Chr12:15132119 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.59G>A (p.Arg20His) single nucleotide variant Retinal cone dystrophy 3A [RCV001113862]|not provided [RCV001371165] Chr12:14978071 [GRCh38]
Chr12:15131005 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.232G>T (p.Ala78Ser) single nucleotide variant Retinal cone dystrophy 3A [RCV001109846] Chr12:14981456 [GRCh38]
Chr12:15134390 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.179T>G (p.Ile60Ser) single nucleotide variant not provided [RCV001058200] Chr12:14981403 [GRCh38]
Chr12:15134337 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.61A>G (p.Lys21Glu) single nucleotide variant not provided [RCV001348726] Chr12:14978073 [GRCh38]
Chr12:15131007 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.229C>T (p.Leu77Phe) single nucleotide variant not provided [RCV001340541] Chr12:14981453 [GRCh38]
Chr12:15134387 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.43G>T (p.Gly15Cys) single nucleotide variant not provided [RCV001341066] Chr12:14978055 [GRCh38]
Chr12:15130989 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.172A>G (p.Thr58Ala) single nucleotide variant not provided [RCV001316998] Chr12:14979216 [GRCh38]
Chr12:15132150 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.176A>G (p.Asp59Gly) single nucleotide variant not provided [RCV001373049] Chr12:14981400 [GRCh38]
Chr12:15134334 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.58C>T (p.Arg20Cys) single nucleotide variant not provided [RCV001309156] Chr12:14978070 [GRCh38]
Chr12:15131004 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.237G>C (p.Gln79His) single nucleotide variant Retinal cone dystrophy 3A [RCV001420347] Chr12:14981461 [GRCh38]
Chr12:15134395 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_006205.3(PDE6H):c.99A>G (p.Gln33=) single nucleotide variant not provided [RCV001447068] Chr12:14978111 [GRCh38]
Chr12:15131045 [GRCh37]
Chr12:12p12.3
likely benign
NM_006205.3(PDE6H):c.135-5C>T single nucleotide variant not provided [RCV001415502] Chr12:14979174 [GRCh38]
Chr12:15132108 [GRCh37]
Chr12:12p12.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8790 AgrOrtholog
COSMIC PDE6H COSMIC
Ensembl Genes ENSG00000139053 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000266395 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000266395 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.1120.10 UniProtKB/Swiss-Prot
GTEx ENSG00000139053 GTEx
HGNC ID HGNC:8790 ENTREZGENE
Human Proteome Map PDE6H Human Proteome Map
InterPro PDE6_gamma UniProtKB/Swiss-Prot
  PDE6_gamma_sf UniProtKB/Swiss-Prot
KEGG Report hsa:5149 UniProtKB/Swiss-Prot
NCBI Gene 5149 ENTREZGENE
OMIM 601190 OMIM
  610024 OMIM
PANTHER PTHR12122 UniProtKB/Swiss-Prot
Pfam PDE6_gamma UniProtKB/Swiss-Prot
PharmGKB PA33138 PharmGKB
PIRSF 35-cGMP_Pdiase_g UniProtKB/Swiss-Prot
UniProt CNCG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q52LY7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PDE6H  phosphodiesterase 6H    phosphodiesterase 6H, cGMP-specific, cone, gamma  Symbol and/or name change 5135510 APPROVED