GRK6 (G protein-coupled receptor kinase 6) - Rat Genome Database

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Gene: GRK6 (G protein-coupled receptor kinase 6) Homo sapiens
Analyze
Symbol: GRK6
Name: G protein-coupled receptor kinase 6
RGD ID: 1350771
HGNC Page HGNC:4545
Description: Enables beta-adrenergic receptor kinase activity. Predicted to be involved in protein phosphorylation and regulation of signal transduction. Located in membrane. Implicated in Parkinson's disease. Biomarker of rheumatoid arthritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ32135; g protein-coupled receptor kinase GRK6; GPRK6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GRK6P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385177,425,523 - 177,442,891 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl5177,403,204 - 177,442,901 (+)EnsemblGRCh38hg38GRCh38
GRCh375176,853,677 - 176,869,892 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,786,293 - 176,802,456 (+)NCBINCBI36Build 36hg18NCBI36
Build 345176,786,293 - 176,802,437NCBI
Celera5171,631,577 - 171,647,739 (-)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,774,137 - 171,790,304 (+)NCBIHuRef
CHM1_15176,287,084 - 176,303,247 (+)NCBICHM1_1
T2T-CHM13v2.05177,969,927 - 177,986,142 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Altered expression and subcellular distribution of GRK subtypes in the dopamine-depleted rat basal ganglia is not normalized by l-DOPA treatment. Ahmed MR, etal., J Neurochem. 2008 Mar;104(6):1622-36. Epub 2007 Nov 7.
2. Lentiviral overexpression of GRK6 alleviates L-dopa-induced dyskinesia in experimental Parkinson's disease. Ahmed MR, etal., Sci Transl Med. 2010 Apr 21;2(28):28ra28.
3. The physiology, signaling, and pharmacology of dopamine receptors. Beaulieu JM and Gainetdinov RR, Pharmacol Rev. 2011 Mar;63(1):182-217. doi: 10.1124/pr.110.002642. Epub 2011 Feb 8.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. The molecular mechanisms underlying the regulation of the biological activity of corticotropin-releasing hormone receptors: implications for physiology and pathophysiology. Hillhouse EW and Grammatopoulos DK, Endocr Rev. 2006 May;27(3):260-86. Epub 2006 Feb 16.
6. Decreased expression and activity of G-protein-coupled receptor kinases in peripheral blood mononuclear cells of patients with rheumatoid arthritis. Lombardi MS, etal., FASEB J. 1999 Apr;13(6):715-25.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Authentically phosphorylated alpha-synuclein at Ser129 accelerates neurodegeneration in a rat model of familial Parkinson's disease. Sato H, etal., J Neurosci. 2011 Nov 16;31(46):16884-94.
11. Angiotensin II-stimulated signaling through G proteins and beta-arrestin. Shenoy SK and Lefkowitz RJ, Sci STKE. 2005 Nov 22;2005(311):cm14.
12. Expression of G-protein-coupled receptor kinase 6 (GRK6) after acute spinal cord injury in adult rat. Sun B, etal., J Mol Histol. 2013 Jun;44(3):259-70. doi: 10.1007/s10735-013-9486-7. Epub 2013 Jan 29.
13. Granulocyte chemotaxis and disease expression are differentially regulated by GRK subtype in an acute inflammatory arthritis model (K/BxN). Tarrant TK, etal., Clin Immunol. 2008 Oct;129(1):115-22. Epub 2008 Jul 26.
14. Renoprotective effects of berberine and its possible molecular mechanisms in combination of high-fat diet and low-dose streptozotocin-induced diabetic rats. Wang FL, etal., Mol Biol Rep. 2013 Mar;40(3):2405-18. doi: 10.1007/s11033-012-2321-5. Epub 2012 Nov 30.
Additional References at PubMed
PMID:7789183   PMID:7961702   PMID:8077221   PMID:8366096   PMID:8415712   PMID:8672451   PMID:9211925   PMID:9341194   PMID:9819198   PMID:9826657   PMID:10334944   PMID:10379886  
PMID:10446210   PMID:10467231   PMID:10506199   PMID:10852916   PMID:10861009   PMID:11504827   PMID:11517230   PMID:11856737   PMID:12007830   PMID:12077128   PMID:12477932   PMID:12507501  
PMID:12552191   PMID:14702039   PMID:15489334   PMID:15498832   PMID:16169070   PMID:16613860   PMID:17081983   PMID:17102134   PMID:17538017   PMID:19423652   PMID:19801552   PMID:19913121  
PMID:19946888   PMID:19956569   PMID:19996089   PMID:20038610   PMID:20383146   PMID:20424473   PMID:20468064   PMID:20628086   PMID:20729810   PMID:21784156   PMID:21873635   PMID:21988832  
PMID:22658674   PMID:22678362   PMID:22703881   PMID:22916037   PMID:22939624   PMID:22952844   PMID:23375037   PMID:23497290   PMID:24302161   PMID:24412271   PMID:24510965   PMID:24561123  
PMID:24711643   PMID:26186194   PMID:26718636   PMID:27232975   PMID:27503909   PMID:27601164   PMID:27882944   PMID:28514442   PMID:28526450   PMID:29805156   PMID:30194290   PMID:30984536  
PMID:31227976   PMID:31871319   PMID:32343709   PMID:32707033   PMID:32814053   PMID:33600497   PMID:33639163   PMID:33961781   PMID:35337019   PMID:36261031   PMID:36555521  


Genomics

Comparative Map Data
GRK6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385177,425,523 - 177,442,891 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl5177,403,204 - 177,442,901 (+)EnsemblGRCh38hg38GRCh38
GRCh375176,853,677 - 176,869,892 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,786,293 - 176,802,456 (+)NCBINCBI36Build 36hg18NCBI36
Build 345176,786,293 - 176,802,437NCBI
Celera5171,631,577 - 171,647,739 (-)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,774,137 - 171,790,304 (+)NCBIHuRef
CHM1_15176,287,084 - 176,303,247 (+)NCBICHM1_1
T2T-CHM13v2.05177,969,927 - 177,986,142 (+)NCBIT2T-CHM13v2.0
Grk6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391355,592,865 - 55,608,740 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1355,592,885 - 55,608,740 (+)EnsemblGRCm39 Ensembl
GRCm381355,445,072 - 55,460,927 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1355,445,072 - 55,460,927 (+)EnsemblGRCm38mm10GRCm38
MGSCv371355,546,695 - 55,562,288 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361355,455,083 - 55,470,548 (+)NCBIMGSCv36mm8
Celera1356,499,490 - 56,514,953 (+)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1330.06NCBI
Grk6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2179,177,018 - 9,192,644 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,177,019 - 9,192,644 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx179,193,134 - 9,208,842 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01710,723,188 - 10,738,879 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0179,189,522 - 9,205,228 (-)NCBIRnor_WKY
Rnor_6.0179,705,917 - 9,721,921 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl179,703,453 - 9,721,574 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01711,814,901 - 11,830,762 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41715,220,992 - 15,236,617 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11715,221,263 - 15,236,617 (-)NCBI
Celera179,255,527 - 9,271,204 (-)NCBICelera
Cytogenetic Map17p14NCBI
Grk6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540829,665,260 - 29,684,207 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540829,665,534 - 29,684,225 (+)NCBIChiLan1.0ChiLan1.0
GRK6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15179,790,665 - 179,807,473 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5179,790,662 - 179,807,410 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05172,704,978 - 172,744,907 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
GRK6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1435,927,470 - 35,943,218 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl435,913,472 - 35,943,221 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha435,894,854 - 35,910,623 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0436,293,886 - 36,309,656 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl436,293,889 - 36,309,637 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1436,119,132 - 36,134,901 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0436,305,102 - 36,320,864 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0436,814,574 - 36,830,339 (-)NCBIUU_Cfam_GSD_1.0
Grk6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213122,681,758 - 122,697,463 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365971,706,665 - 1,722,370 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365971,706,671 - 1,722,370 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRK6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl280,508,979 - 80,527,210 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1280,496,105 - 80,527,208 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GRK6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12379,437,056 - 79,454,213 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2379,437,078 - 79,453,113 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607510,628,695 - 10,645,867 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Grk6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473312,633,565 - 12,661,284 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GRK6
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1 copy number loss See cases [RCV000050645] Chr5:176132340..177586960 [GRCh38]
Chr5:175559343..177013961 [GRCh37]
Chr5:175491949..176946567 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 copy number gain See cases [RCV000051867] Chr5:175851047..178365049 [GRCh38]
Chr5:175278050..177792050 [GRCh37]
Chr5:175210656..177724656 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 copy number loss See cases [RCV000052151] Chr5:175007241..179089812 [GRCh38]
Chr5:174434244..178516813 [GRCh37]
Chr5:174366850..178449419 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 copy number loss See cases [RCV000053127] Chr5:176043476..177995759 [GRCh38]
Chr5:175470479..177422760 [GRCh37]
Chr5:175403085..177355366 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 copy number loss See cases [RCV000053128] Chr5:176115257..177646633 [GRCh38]
Chr5:175542260..177073634 [GRCh37]
Chr5:175474866..177006240 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 copy number loss See cases [RCV000053129] Chr5:176152073..177986213 [GRCh38]
Chr5:175579076..177413214 [GRCh37]
Chr5:175511682..177345820 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 copy number loss See cases [RCV000053131] Chr5:176152073..177646633 [GRCh38]
Chr5:175579076..177073634 [GRCh37]
Chr5:175511682..177006240 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 copy number gain See cases [RCV000053481] Chr5:176149599..177716401 [GRCh38]
Chr5:175576602..177143402 [GRCh37]
Chr5:175509208..177076008 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic|uncertain significance
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177452489)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|See cases [RCV000053860] Chr5:176043476..177452489 [GRCh38]
Chr5:175470479..176879490 [GRCh37]
Chr5:175403085..176812096 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic|uncertain significance
NM_001004106.2(GRK6):c.1264C>T (p.Gln422Ter) single nucleotide variant Malignant melanoma [RCV000066865] Chr5:177436279 [GRCh38]
Chr5:176863280 [GRCh37]
Chr5:176795886 [NCBI36]
Chr5:5q35.3		 not provided
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3 copy number gain See cases [RCV000138817] Chr5:177261458..177651722 [GRCh38]
Chr5:176688459..177078723 [GRCh37]
Chr5:176621065..177011329 [NCBI36]
Chr5:5q35.3		 likely benign|uncertain significance
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 copy number loss See cases [RCV000142365] Chr5:175989092..178009412 [GRCh38]
Chr5:175416095..177436413 [GRCh37]
Chr5:175348701..177369019 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 copy number loss See cases [RCV000142510] Chr5:176132340..177995759 [GRCh38]
Chr5:175559343..177422760 [GRCh37]
Chr5:175491949..177355366 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 copy number loss See cases [RCV000142047] Chr5:176291838..178662699 [GRCh38]
Chr5:175718841..178089700 [GRCh37]
Chr5:175651447..178022306 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 copy number loss See cases [RCV000142538] Chr5:176517339..177709289 [GRCh38]
Chr5:175944340..177136290 [GRCh37]
Chr5:175876946..177068896 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 copy number loss See cases [RCV000143463] Chr5:176143674..178009412 [GRCh38]
Chr5:175570677..177436413 [GRCh37]
Chr5:175503283..177369019 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3 copy number gain See cases [RCV000445774] Chr5:175722788..177423091 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176505173-178230923)x1 copy number loss See cases [RCV000445817] Chr5:176505173..178230923 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1 copy number loss See cases [RCV000511974] Chr5:175438045..177392885 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain See cases [RCV000511393] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1 copy number loss See cases [RCV000512405] Chr5:175570678..177437340 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
Single allele duplication not provided [RCV000677989] Chr5:176798338..177423150 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1 copy number loss not provided [RCV000682615] Chr5:175570677..177436413 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1 copy number loss not provided [RCV000682614] Chr5:175438045..177481250 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1 copy number loss not provided [RCV000682618] Chr5:176044976..177023859 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1 copy number loss not provided [RCV000845642] Chr5:176732536..177260046 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1 copy number loss not provided [RCV000745338] Chr5:175346223..177423236 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1 copy number loss not provided [RCV000745339] Chr5:175433876..177441189 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876) copy number gain not provided [RCV000767712] Chr5:176305543..177422876 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4 copy number gain not provided [RCV000848335] Chr5:176774402..177064884 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3 copy number gain not provided [RCV000847220] Chr5:176848982..180719789 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain not provided [RCV000846148] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3 copy number gain not provided [RCV000846590] Chr5:176643613..179085551 [GRCh37]
Chr5:5q35.3		 uncertain significance
Single allele deletion Marfanoid habitus and intellectual disability [RCV000851176] Chr5:175875407..177036017 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
NC_000005.9:g.(?_176289625)_(177151363_?)del deletion Sotos syndrome 1 [RCV003107715]|not provided [RCV003113198] Chr5:176289625..177151363 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176547912-177126647)x3 copy number gain not provided [RCV002472528] Chr5:176547912..177126647 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.3(chr5:176718361-176957659)x3 copy number gain not provided [RCV002472682] Chr5:176718361..176957659 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 copy number loss Sotos syndrome [RCV001252953] Chr5:175346695..177469711 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3 copy number gain not provided [RCV001258712] Chr5:175570677..177114151 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3 copy number gain not provided [RCV001258713] Chr5:175394616..177436413 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3 copy number gain not provided [RCV001832980] Chr5:176497464..177776599 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic|likely pathogenic
NC_000005.9:g.(?_176047812)_(177422934_?)del deletion Ehlers-Danlos syndrome progeroid type [RCV001931790] Chr5:176047812..177422934 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance
NC_000005.9:g.(?_176047812)_(177422934_?)dup duplication Ehlers-Danlos syndrome progeroid type [RCV001883344]|not provided [RCV001879660] Chr5:176047812..177422934 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance
NC_000005.9:g.(?_175158654)_(179263593_?)dup duplication Ehlers-Danlos syndrome, dermatosparaxis type [RCV003116717]|Sotos syndrome 1 [RCV003109682] Chr5:175158654..179263593 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance
NC_000005.9:g.(?_176618865)_(177036696_?)dup duplication Sotos syndrome 1 [RCV003111494] Chr5:176618865..177036696 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3 copy number gain See cases [RCV002292398] Chr5:170350336..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3 copy number gain not provided [RCV002474595] Chr5:176516440..177773252 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.3(chr5:176616151-177107778)x3 copy number gain not provided [RCV002472763] Chr5:176616151..177107778 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001004106.3(GRK6):c.1535A>G (p.Gln512Arg) single nucleotide variant Inborn genetic diseases [RCV002817039] Chr5:177440830 [GRCh38]
Chr5:176867831 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001004106.3(GRK6):c.1094G>C (p.Ser365Thr) single nucleotide variant Inborn genetic diseases [RCV002978644] Chr5:177436109 [GRCh38]
Chr5:176863110 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001004106.3(GRK6):c.*33G>A single nucleotide variant Inborn genetic diseases [RCV002662245] Chr5:177441823 [GRCh38]
Chr5:176868824 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001004106.3(GRK6):c.487G>C (p.Asp163His) single nucleotide variant Inborn genetic diseases [RCV002743292] Chr5:177433193 [GRCh38]
Chr5:176860194 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001004106.3(GRK6):c.1469A>T (p.Glu490Val) single nucleotide variant Inborn genetic diseases [RCV002641494] Chr5:177440764 [GRCh38]
Chr5:176867765 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001004106.3(GRK6):c.1704C>T (p.Ser568_Glu569=) single nucleotide variant Inborn genetic diseases [RCV002936182] Chr5:177441763 [GRCh38]
Chr5:176868764 [GRCh37]
Chr5:5q35.3		 likely benign
NM_001004106.3(GRK6):c.451G>A (p.Glu151Lys) single nucleotide variant Inborn genetic diseases [RCV002719430] Chr5:177433157 [GRCh38]
Chr5:176860158 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001004106.3(GRK6):c.368G>A (p.Arg123Gln) single nucleotide variant Inborn genetic diseases [RCV002988072] Chr5:177432734 [GRCh38]
Chr5:176859735 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001004106.3(GRK6):c.236G>A (p.Arg79His) single nucleotide variant Inborn genetic diseases [RCV002652513] Chr5:177432082 [GRCh38]
Chr5:176859083 [GRCh37]
Chr5:5q35.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4683
Count of miRNA genes:1041
Interacting mature miRNAs:1302
Transcripts:ENST00000355472, ENST00000355958, ENST00000393576, ENST00000502598, ENST00000506296, ENST00000507633, ENST00000508705, ENST00000511244, ENST00000512684, ENST00000515666, ENST00000528793
Prediction methods: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.

Markers in Region
D13S662E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371321,893,948 - 21,894,051UniSTSGRCh37
Build 361320,791,948 - 20,792,051RGDNCBI36
Celera132,955,635 - 2,955,738RGD
Cytogenetic Map5q35UniSTS
Cytogenetic Map13q12.11UniSTS
HuRef132,694,651 - 2,694,754UniSTS
RH70522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,868,882 - 176,869,080UniSTSGRCh37
Build 365176,801,488 - 176,801,686RGDNCBI36
Celera5171,632,347 - 171,632,545RGD
Cytogenetic Map5q35UniSTS
HuRef5171,789,336 - 171,789,534UniSTS
GeneMap99-GB4 RH Map5636.91UniSTS
NCBI RH Map5973.0UniSTS
WI-18758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371321,895,533 - 21,895,678UniSTSGRCh37
GRCh375176,869,317 - 176,869,462UniSTSGRCh37
Build 365176,801,923 - 176,802,068RGDNCBI36
Celera132,957,220 - 2,957,365UniSTS
Celera5171,631,965 - 171,632,110RGD
Cytogenetic Map5q35UniSTS
Cytogenetic Map13q12.11UniSTS
HuRef132,696,525 - 2,696,670UniSTS
HuRef5171,789,771 - 171,789,916UniSTS
GeneMap99-GB4 RH Map5643.9UniSTS
Whitehead-RH Map5541.8UniSTS
GRK6_3990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,869,047 - 176,869,879UniSTSGRCh37
Build 365176,801,653 - 176,802,485RGDNCBI36
Celera5171,631,548 - 171,632,380RGD
HuRef5171,789,501 - 171,790,333UniSTS


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 pharyngeal arch
High
Medium 2334 2142 1267 293 1942 137 3707 1169 2601 270 1437 1585 169 1146 2172 3
Low 105 849 459 331 9 328 649 1028 1133 149 22 28 6 1 58 616 2 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001004105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001004106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC145098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF040751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF040752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF040753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE965975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI258860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU507609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX382886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L16862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U00686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000355472   ⟹   ENSP00000347655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,426,676 - 177,442,891 (+)Ensembl
RefSeq Acc Id: ENST00000355958   ⟹   ENSP00000348230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,426,843 - 177,441,353 (+)Ensembl
RefSeq Acc Id: ENST00000393576   ⟹   ENSP00000377204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,426,794 - 177,442,901 (+)Ensembl
RefSeq Acc Id: ENST00000502598   ⟹   ENSP00000422873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,403,204 - 177,432,257 (+)Ensembl
RefSeq Acc Id: ENST00000506296   ⟹   ENSP00000421055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,404,406 - 177,434,030 (+)Ensembl
RefSeq Acc Id: ENST00000507633   ⟹   ENSP00000427581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,426,745 - 177,436,685 (+)Ensembl
RefSeq Acc Id: ENST00000508705   ⟹   ENSP00000423174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,432,233 - 177,436,121 (+)Ensembl
RefSeq Acc Id: ENST00000511244   ⟹   ENSP00000425391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,426,496 - 177,433,189 (+)Ensembl
RefSeq Acc Id: ENST00000512684   ⟹   ENSP00000422342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,426,854 - 177,430,967 (+)Ensembl
RefSeq Acc Id: ENST00000515666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,431,711 - 177,442,064 (+)Ensembl
RefSeq Acc Id: ENST00000528793   ⟹   ENSP00000433511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,426,843 - 177,442,625 (+)Ensembl
RefSeq Acc Id: NM_001004105   ⟹   NP_001004105
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,426,676 - 177,441,353 (+)NCBI
GRCh375176,853,687 - 176,869,850 (+)ENTREZGENE
Build 365176,786,293 - 176,800,960 (+)NCBI Archive
HuRef5171,774,137 - 171,790,304 (+)ENTREZGENE
CHM1_15176,287,084 - 176,301,751 (+)NCBI
T2T-CHM13v2.05177,969,927 - 177,984,604 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001004106   ⟹   NP_001004106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,426,676 - 177,442,891 (+)NCBI
GRCh375176,853,687 - 176,869,850 (+)ENTREZGENE
Build 365176,786,293 - 176,802,456 (+)NCBI Archive
HuRef5171,774,137 - 171,790,304 (+)ENTREZGENE
CHM1_15176,287,084 - 176,303,247 (+)NCBI
T2T-CHM13v2.05177,969,927 - 177,986,142 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364164   ⟹   NP_001351093
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,426,676 - 177,442,891 (+)NCBI
T2T-CHM13v2.05177,969,927 - 177,986,142 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002082   ⟹   NP_002073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,426,676 - 177,442,622 (+)NCBI
GRCh375176,853,687 - 176,869,850 (+)ENTREZGENE
Build 365176,786,293 - 176,802,456 (+)NCBI Archive
HuRef5171,774,137 - 171,790,304 (+)ENTREZGENE
CHM1_15176,287,084 - 176,303,247 (+)NCBI
T2T-CHM13v2.05177,969,927 - 177,985,873 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006714858   ⟹   XP_006714921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,431,711 - 177,442,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006714859   ⟹   XP_006714922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,426,557 - 177,442,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534538   ⟹   XP_011532840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,433,578 - 177,442,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047417126   ⟹   XP_047273082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,425,523 - 177,442,891 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_002073   ⟸   NM_002082
- Peptide Label: isoform B
- UniProtKB: P43250 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001004106   ⟸   NM_001004106
- Peptide Label: isoform A
- UniProtKB: Q13652 (UniProtKB/Swiss-Prot),   P43250 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001004105   ⟸   NM_001004105
- Peptide Label: isoform C
- UniProtKB: P43250 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006714922   ⟸   XM_006714859
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006714921   ⟸   XM_006714858
- Peptide Label: isoform X1
- UniProtKB: B3KPS5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532840   ⟸   XM_011534538
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001351093   ⟸   NM_001364164
- Peptide Label: isoform D
RefSeq Acc Id: ENSP00000422873   ⟸   ENST00000502598
RefSeq Acc Id: ENSP00000421055   ⟸   ENST00000506296
RefSeq Acc Id: ENSP00000427581   ⟸   ENST00000507633
RefSeq Acc Id: ENSP00000423174   ⟸   ENST00000508705
RefSeq Acc Id: ENSP00000377204   ⟸   ENST00000393576
RefSeq Acc Id: ENSP00000425391   ⟸   ENST00000511244
RefSeq Acc Id: ENSP00000347655   ⟸   ENST00000355472
RefSeq Acc Id: ENSP00000422342   ⟸   ENST00000512684
RefSeq Acc Id: ENSP00000348230   ⟸   ENST00000355958
RefSeq Acc Id: ENSP00000433511   ⟸   ENST00000528793
RefSeq Acc Id: XP_047273082   ⟸   XM_047417126
- Peptide Label: isoform X3
Protein Domains
AGC-kinase C-terminal   Protein kinase   RGS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P43250-F1-model_v2 AlphaFold P43250 1-576 view protein structure

Promoters
RGD ID:6803234
Promoter ID:HG_KWN:51907
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001004105,   NM_001004106,   NM_002082,   UC003MGP.2
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,785,531 - 176,786,577 (+)MPROMDB
RGD ID:6803236
Promoter ID:HG_KWN:51908
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003MGS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,790,386 - 176,791,467 (+)MPROMDB
RGD ID:6812726
Promoter ID:HG_ACW:66687
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:GRK6.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,799,886 - 176,800,386 (+)MPROMDB
RGD ID:6871708
Promoter ID:EPDNEW_H9019
Type:initiation region
Name:GRK6_1
Description:G protein-coupled receptor kinase 6
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
GRCh385177,426,683 - 177,426,743EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4545 AgrOrtholog
COSMIC GRK6 COSMIC
Ensembl Genes ENSG00000198055 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000347655 ENTREZGENE
  ENSP00000347655.5 UniProtKB/Swiss-Prot
  ENSP00000348230 ENTREZGENE
  ENSP00000348230.5 UniProtKB/Swiss-Prot
  ENSP00000377204.3 UniProtKB/TrEMBL
  ENSP00000421055.1 UniProtKB/TrEMBL
  ENSP00000422342.1 UniProtKB/TrEMBL
  ENSP00000422873.1 UniProtKB/TrEMBL
  ENSP00000423174.1 UniProtKB/TrEMBL
  ENSP00000425391.1 UniProtKB/TrEMBL
  ENSP00000427581.1 UniProtKB/TrEMBL
  ENSP00000433511.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000355472 ENTREZGENE
  ENST00000355472.10 UniProtKB/Swiss-Prot
  ENST00000355958 ENTREZGENE
  ENST00000355958.9 UniProtKB/Swiss-Prot
  ENST00000393576.7 UniProtKB/TrEMBL
  ENST00000502598.5 UniProtKB/TrEMBL
  ENST00000506296.5 UniProtKB/TrEMBL
  ENST00000507633.5 UniProtKB/TrEMBL
  ENST00000508705.1 UniProtKB/TrEMBL
  ENST00000511244.5 UniProtKB/TrEMBL
  ENST00000512684.1 UniProtKB/TrEMBL
  ENST00000528793.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.167.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.287.1270 UniProtKB/TrEMBL
  6.10.250.2260 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198055 GTEx
HGNC ID HGNC:4545 ENTREZGENE
Human Proteome Map GRK6 Human Proteome Map
InterPro AGC-kinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS_subdomain_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2870 UniProtKB/Swiss-Prot
NCBI Gene 2870 ENTREZGENE
OMIM 600869 OMIM
PANTHER G PROTEIN-COUPLED RECEPTOR KINASE 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G PROTEIN-COUPLED RECEPTOR KINASE/RIBOSOMAL PROTEIN S6 KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28942 PharmGKB
PRINTS GPCRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AGC_KINASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TK_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48097 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KPS5 ENTREZGENE, UniProtKB/TrEMBL
  D6R9V4_HUMAN UniProtKB/TrEMBL
  D6RC88_HUMAN UniProtKB/TrEMBL
  D6RDA3_HUMAN UniProtKB/TrEMBL
  D6RHC7_HUMAN UniProtKB/TrEMBL
  D6RHX8_HUMAN UniProtKB/TrEMBL
  F8W9W2_HUMAN UniProtKB/TrEMBL
  GRK6_HUMAN UniProtKB/Swiss-Prot
  H0Y967_HUMAN UniProtKB/TrEMBL
  P43250 ENTREZGENE
  Q13652 ENTREZGENE
  Q96AD6_HUMAN UniProtKB/TrEMBL
UniProt Secondary O60541 UniProtKB/Swiss-Prot
  Q13652 UniProtKB/Swiss-Prot