RGS14 (regulator of G protein signaling 14) - Rat Genome Database

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Gene: RGS14 (regulator of G protein signaling 14) Homo sapiens
Analyze
Symbol: RGS14
Name: regulator of G protein signaling 14
RGD ID: 733515
HGNC Page HGNC:9996
Description: Enables GDP-dissociation inhibitor activity; GTPase activator activity; and microtubule binding activity. Involved in cell division and spindle organization. Located in spindle. Implicated in nephrolithiasis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: regulator of G-protein signaling 14; regulator of G-protein signalling 14
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
GRCh385177,357,924 - 177,372,596 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5177,357,924 - 177,372,596 (+)EnsemblGRCh38hg38GRCh38
GRCh375176,784,925 - 176,799,597 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,717,450 - 176,732,205 (+)NCBINCBI36Build 36hg18NCBI36
Build 345176,717,449 - 176,732,204NCBI
Celera5171,701,669 - 171,716,413 (-)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,705,499 - 171,720,237 (+)NCBIHuRef
CHM1_15176,217,893 - 176,232,649 (+)NCBICHM1_1
T2T-CHM13v2.05177,901,146 - 177,915,812 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell projection  (IEA)
centrosome  (IEA,ISS)
cytoplasm  (IBA,IEA,ISS)
cytoskeleton  (IEA)
dendrite  (IEA,ISO,ISS)
dendritic spine  (IEA,ISS)
glutamatergic synapse  (IEA,ISO)
membrane  (IEA)
microtubule  (IEA)
nuclear body  (IEA,ISS)
nucleus  (IBA,IEA,ISS)
plasma membrane  (IBA,IEA,ISS,TAS)
PML body  (IEA)
postsynaptic density  (IEA,ISO,ISS)
spindle  (IDA,IEA)
spindle pole  (IEA,ISS)
synapse  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. Urabe Y, etal., PLoS Genet. 2012;8(3):e1002541. doi: 10.1371/journal.pgen.1002541. Epub 2012 Mar 1.
Additional References at PubMed
PMID:9168931   PMID:10926822   PMID:10953050   PMID:11387333   PMID:11829488   PMID:11976690   PMID:12477932   PMID:12534294   PMID:14702039   PMID:15489334   PMID:15525537   PMID:15917656  
PMID:16189514   PMID:17603074   PMID:17635935   PMID:18029348   PMID:19636837   PMID:19878719   PMID:19899154   PMID:20383146   PMID:20627871   PMID:20842066   PMID:21044950   PMID:21832049  
PMID:21833088   PMID:21873635   PMID:21880739   PMID:21988832   PMID:22379092   PMID:22703881   PMID:22797727   PMID:22807448   PMID:23128233   PMID:23255434   PMID:24068962   PMID:26186194  
PMID:26987813   PMID:28298427   PMID:28514442   PMID:28776200   PMID:30217807   PMID:30945288   PMID:31754202   PMID:32296183   PMID:32665550   PMID:33309307   PMID:33410399   PMID:33961781  
PMID:35013429   PMID:35307350   PMID:36541898   PMID:38237897  


Genomics

Comparative Map Data
RGS14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385177,357,924 - 177,372,596 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5177,357,924 - 177,372,596 (+)EnsemblGRCh38hg38GRCh38
GRCh375176,784,925 - 176,799,597 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,717,450 - 176,732,205 (+)NCBINCBI36Build 36hg18NCBI36
Build 345176,717,449 - 176,732,204NCBI
Celera5171,701,669 - 171,716,413 (-)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,705,499 - 171,720,237 (+)NCBIHuRef
CHM1_15176,217,893 - 176,232,649 (+)NCBICHM1_1
T2T-CHM13v2.05177,901,146 - 177,915,812 (+)NCBIT2T-CHM13v2.0
Rgs14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391355,517,269 - 55,532,504 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1355,517,545 - 55,532,500 (+)EnsemblGRCm39 Ensembl
GRCm381355,369,732 - 55,384,687 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1355,369,732 - 55,384,687 (+)EnsemblGRCm38mm10GRCm38
MGSCv371355,471,093 - 55,486,048 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361354,849,935 - 54,864,851 (+)NCBIMGSCv36mm8
MGSCv361355,379,393 - 55,394,309 (+)NCBIMGSCv36mm8
Cytogenetic Map13B1NCBI
cM Map1329.8NCBI
Rgs14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8179,254,112 - 9,268,233 (-)NCBIGRCr8
mRatBN7.2179,248,982 - 9,263,104 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,249,019 - 9,263,104 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx179,265,278 - 9,279,405 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01710,795,224 - 10,809,305 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0179,261,669 - 9,275,796 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0179,777,925 - 9,792,007 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl179,777,842 - 9,792,007 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01711,887,270 - 11,901,352 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41715,293,100 - 15,307,162 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11715,293,099 - 15,307,162 (-)NCBI
Celera179,327,534 - 9,341,623 (-)NCBICelera
Cytogenetic Map17p14NCBI
Rgs14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540829,602,820 - 29,616,210 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540829,602,654 - 29,616,793 (+)NCBIChiLan1.0ChiLan1.0
RGS14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24172,441,892 - 172,456,648 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15170,581,431 - 170,596,187 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05172,659,323 - 172,674,084 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15179,721,876 - 179,736,608 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5179,721,876 - 179,739,453 (+)Ensemblpanpan1.1panPan2
RGS14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1435,984,970 - 35,999,386 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl435,985,132 - 35,999,294 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha435,952,393 - 35,966,792 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0436,351,200 - 36,365,605 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl436,310,038 - 36,365,601 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1436,176,431 - 36,190,828 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0436,362,626 - 36,377,029 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0436,871,876 - 36,886,282 (-)NCBIUU_Cfam_GSD_1.0
Rgs14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213122,617,771 - 122,633,949 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365971,643,616 - 1,658,638 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365971,650,480 - 1,658,823 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RGS14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl280,574,415 - 80,590,003 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1280,574,411 - 80,589,998 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2282,278,839 - 82,294,432 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RGS14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12379,370,320 - 79,385,355 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2379,370,087 - 79,387,192 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607510,559,155 - 10,573,950 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rgs14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473312,707,825 - 12,723,279 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473312,705,392 - 12,722,919 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RGS14
32 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
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 5q35.3(chr5:177118445-177374609)x3 copy number gain See cases [RCV000141324] Chr5:177118445..177374609 [GRCh38]
Chr5:176545446..176801610 [GRCh37]
Chr5:176478052..176734216 [NCBI36]
Chr5:5q35.3
likely pathogenic
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(chr5:176700128-181269805)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(chr5:176517339-177709289)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(chr5:176143674-178009412)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 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 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 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 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 5q35.1-35.3(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 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(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_006480.5(RGS14):c.1175C>G (p.Pro392Arg) single nucleotide variant Inborn genetic diseases [RCV003259550] Chr5:177370952 [GRCh38]
Chr5:176797953 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.41G>A (p.Arg14His) single nucleotide variant Inborn genetic diseases [RCV003251357] Chr5:177358065 [GRCh38]
Chr5:176785066 [GRCh37]
Chr5:5q35.3
uncertain significance
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 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 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 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(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [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
NM_006480.5(RGS14):c.1685C>T (p.Thr562Ile) single nucleotide variant Inborn genetic diseases [RCV003288665] Chr5:177372059 [GRCh38]
Chr5:176799060 [GRCh37]
Chr5:5q35.3
uncertain significance
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 5q35.2-35.3(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
GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1 copy number loss not provided [RCV000845642] Chr5:176732536..177260046 [GRCh37]
Chr5:5q35.3
uncertain significance
NC_000005.9:g.(?_176289625)_(177151363_?)del deletion Sotos syndrome [RCV003232856]|not provided [RCV003113198] Chr5:176289625..177151363 [GRCh37]
Chr5:5q35.2-35.3
pathogenic|no classifications from unflagged records
NM_006480.5(RGS14):c.1621G>A (p.Glu541Lys) single nucleotide variant not provided [RCV000948724] Chr5:177371995 [GRCh38]
Chr5:176798996 [GRCh37]
Chr5:5q35.3
benign
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 5q35.3(chr5:176616151-177107778)x3 copy number gain not provided [RCV002472763] Chr5:176616151..177107778 [GRCh37]
Chr5:5q35.3
uncertain significance
NC_000005.10:g.177357511G>A single nucleotide variant not provided [RCV001621874] Chr5:177357511 [GRCh38]
Chr5:176784512 [GRCh37]
Chr5:5q35.3
benign
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 copy number loss Sotos syndrome [RCV003232270] Chr5:175346695..177469711 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
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(chr5:175394616-177436413)x3 copy number gain not provided [RCV001258713] Chr5:175394616..177436413 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)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(chr5:176497464-177776599)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 [RCV003232857]|not provided [RCV003154288] Chr5:175158654..179263593 [GRCh37]
Chr5:5q35.2-35.3
uncertain significance|no classifications from unflagged records
NC_000005.9:g.(?_176618865)_(177036696_?)dup duplication Sotos syndrome [RCV003232859] Chr5:176618865..177036696 [GRCh37]
Chr5:5q35.3
uncertain significance
Single allele duplication 5q35 microduplication syndrome [RCV002286375] Chr5:176449583..177376826 [GRCh38]
Chr5:5q35.2-35.3
pathogenic
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 5q35.2-35.3(chr5:176547912-177126647)x3 copy number gain not provided [RCV002472528] Chr5:176547912..177126647 [GRCh37]
Chr5:5q35.2-35.3
likely pathogenic
NM_006480.5(RGS14):c.1642A>G (p.Lys548Glu) single nucleotide variant Inborn genetic diseases [RCV002734317] Chr5:177372016 [GRCh38]
Chr5:176799017 [GRCh37]
Chr5:5q35.3
likely benign
NM_006480.5(RGS14):c.1621G>C (p.Glu541Gln) single nucleotide variant Inborn genetic diseases [RCV002734366] Chr5:177371995 [GRCh38]
Chr5:176798996 [GRCh37]
Chr5:5q35.3
likely benign
NM_006480.5(RGS14):c.1604C>T (p.Ala535Val) single nucleotide variant Inborn genetic diseases [RCV002748971] Chr5:177371978 [GRCh38]
Chr5:176798979 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.1069C>G (p.Gln357Glu) single nucleotide variant Inborn genetic diseases [RCV002739674] Chr5:177370606 [GRCh38]
Chr5:176797607 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.1282G>A (p.Gly428Arg) single nucleotide variant Inborn genetic diseases [RCV002707326] Chr5:177371192 [GRCh38]
Chr5:176798193 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.1178C>G (p.Thr393Ser) single nucleotide variant Inborn genetic diseases [RCV002804778] Chr5:177370955 [GRCh38]
Chr5:176797956 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.103G>A (p.Glu35Lys) single nucleotide variant Inborn genetic diseases [RCV002812692] Chr5:177366212 [GRCh38]
Chr5:176793213 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.1430C>T (p.Ala477Val) single nucleotide variant Inborn genetic diseases [RCV002674659] Chr5:177371521 [GRCh38]
Chr5:176798522 [GRCh37]
Chr5:5q35.3
likely benign
NM_006480.5(RGS14):c.1438A>G (p.Ser480Gly) single nucleotide variant Inborn genetic diseases [RCV002677400] Chr5:177371529 [GRCh38]
Chr5:176798530 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.1081G>A (p.Val361Met) single nucleotide variant Inborn genetic diseases [RCV002656775] Chr5:177370618 [GRCh38]
Chr5:176797619 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.707G>A (p.Gly236Glu) single nucleotide variant Inborn genetic diseases [RCV003220214] Chr5:177367793 [GRCh38]
Chr5:176794794 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.658C>T (p.Pro220Ser) single nucleotide variant Inborn genetic diseases [RCV003191202] Chr5:177367744 [GRCh38]
Chr5:176794745 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.880G>T (p.Gly294Cys) single nucleotide variant Inborn genetic diseases [RCV003195381] Chr5:177368747 [GRCh38]
Chr5:176795748 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.659C>T (p.Pro220Leu) single nucleotide variant Inborn genetic diseases [RCV003174601] Chr5:177367745 [GRCh38]
Chr5:176794746 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.742C>G (p.Leu248Val) single nucleotide variant Inborn genetic diseases [RCV003193172] Chr5:177368159 [GRCh38]
Chr5:176795160 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.743T>G (p.Leu248Arg) single nucleotide variant Inborn genetic diseases [RCV003193173] Chr5:177368160 [GRCh38]
Chr5:176795161 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_006480.5(RGS14):c.1417C>T (p.His473Tyr) single nucleotide variant Inborn genetic diseases [RCV003217481] Chr5:177371508 [GRCh38]
Chr5:176798509 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1 copy number loss not provided [RCV003485494] Chr5:175332333..177469711 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
Single allele deletion not provided [RCV003448669] Chr5:175559209..177430432 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4156
Count of miRNA genes:952
Interacting mature miRNAs:1207
Transcripts:ENST00000408923, ENST00000425155, ENST00000502731, ENST00000503044, ENST00000503110, ENST00000504631, ENST00000506944, ENST00000509289, ENST00000511890, ENST00000512000, ENST00000512490, ENST00000514102, ENST00000514713
Prediction methods:Microtar, Miranda, Rnahybrid
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
D5S1624E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,799,485 - 176,799,564UniSTSGRCh37
Build 365176,732,091 - 176,732,170RGDNCBI36
Celera5171,701,704 - 171,701,783RGD
Cytogenetic Map5q35.3UniSTS
HuRef5171,720,123 - 171,720,202UniSTS
GeneMap99-GB4 RH Map5636.91UniSTS
NCBI RH Map5973.0UniSTS
RGS14_3061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,798,945 - 176,799,570UniSTSGRCh37
Build 365176,731,551 - 176,732,176RGDNCBI36
Celera5171,701,698 - 171,702,323RGD
HuRef5171,719,583 - 171,720,208UniSTS


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 1
Medium 1023 937 1277 510 1861 413 1659 355 1758 298 943 1339 104 286 774 1
Low 1406 2037 446 112 87 51 2691 1825 1912 121 505 263 68 918 2011 3
Below cutoff 3 10 1 1 1 6 15 46 8 7 2 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001366617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC146507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF037194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF037195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI623584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY987041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI752372 (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

RefSeq Acc Id: ENST00000408923   ⟹   ENSP00000386229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,357,924 - 177,372,596 (+)Ensembl
RefSeq Acc Id: ENST00000425155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,367,314 - 177,372,596 (+)Ensembl
RefSeq Acc Id: ENST00000502731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,370,553 - 177,371,578 (+)Ensembl
RefSeq Acc Id: ENST00000503044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,371,107 - 177,372,143 (+)Ensembl
RefSeq Acc Id: ENST00000503110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,367,217 - 177,368,888 (+)Ensembl
RefSeq Acc Id: ENST00000504631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,366,428 - 177,367,557 (+)Ensembl
RefSeq Acc Id: ENST00000506944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,371,113 - 177,372,166 (+)Ensembl
RefSeq Acc Id: ENST00000509289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,371,066 - 177,371,582 (+)Ensembl
RefSeq Acc Id: ENST00000511890   ⟹   ENSP00000422329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,366,943 - 177,372,298 (+)Ensembl
RefSeq Acc Id: ENST00000512000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,367,302 - 177,368,016 (+)Ensembl
RefSeq Acc Id: ENST00000512490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,367,303 - 177,368,804 (+)Ensembl
RefSeq Acc Id: ENST00000514102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,370,821 - 177,372,292 (+)Ensembl
RefSeq Acc Id: ENST00000514713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,366,943 - 177,369,075 (+)Ensembl
RefSeq Acc Id: NM_001366617   ⟹   NP_001353546
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,357,924 - 177,372,596 (+)NCBI
T2T-CHM13v2.05177,901,146 - 177,915,812 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001366618   ⟹   NP_001353547
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,357,924 - 177,372,596 (+)NCBI
T2T-CHM13v2.05177,901,146 - 177,915,812 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006480   ⟹   NP_006471
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,357,924 - 177,372,596 (+)NCBI
GRCh375176,784,704 - 176,799,599 (+)NCBI
Build 365176,717,450 - 176,732,205 (+)NCBI Archive
HuRef5171,705,499 - 171,720,237 (+)ENTREZGENE
CHM1_15176,217,893 - 176,232,649 (+)NCBI
T2T-CHM13v2.05177,901,146 - 177,915,812 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416638   ⟹   XP_047272594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,357,924 - 177,372,596 (+)NCBI
RefSeq Acc Id: XM_047416639   ⟹   XP_047272595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,363,053 - 177,372,596 (+)NCBI
RefSeq Acc Id: XM_054351449   ⟹   XP_054207424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05177,901,146 - 177,915,812 (+)NCBI
RefSeq Acc Id: XM_054351450   ⟹   XP_054207425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05177,906,275 - 177,915,812 (+)NCBI
RefSeq Acc Id: NP_006471   ⟸   NM_006480
- Peptide Label: isoform 1
- UniProtKB: Q6ZWA4 (UniProtKB/Swiss-Prot),   Q506M1 (UniProtKB/Swiss-Prot),   O43565 (UniProtKB/Swiss-Prot),   Q8TD62 (UniProtKB/Swiss-Prot),   O43566 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001353546   ⟸   NM_001366617
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001353547   ⟸   NM_001366618
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000422329   ⟸   ENST00000511890
RefSeq Acc Id: ENSP00000386229   ⟸   ENST00000408923
RefSeq Acc Id: XP_047272594   ⟸   XM_047416638
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047272595   ⟸   XM_047416639
- Peptide Label: isoform X2
- UniProtKB: H0Y8W3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207424   ⟸   XM_054351449
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054207425   ⟸   XM_054351450
- Peptide Label: isoform X2
- UniProtKB: H0Y8W3 (UniProtKB/TrEMBL)
Protein Domains
GoLoco   RBD   RGS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43566-F1-model_v2 AlphaFold O43566 1-566 view protein structure

Promoters
RGD ID:6803504
Promoter ID:HG_KWN:51901
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000336477,   ENST00000398128,   NM_006480
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,717,139 - 176,717,639 (+)MPROMDB
RGD ID:6803505
Promoter ID:HG_KWN:51902
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC003MGG.1,   UC003MGH.1,   UC003MGI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,727,571 - 176,728,071 (+)MPROMDB
RGD ID:6803506
Promoter ID:HG_KWN:51903
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC003MGJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,730,341 - 176,731,087 (+)MPROMDB
RGD ID:6871696
Promoter ID:EPDNEW_H9013
Type:multiple initiation site
Name:RGS14_3
Description:regulator of G protein signaling 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9014  EPDNEW_H9015  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,357,658 - 177,357,718EPDNEW
RGD ID:6871698
Promoter ID:EPDNEW_H9014
Type:initiation region
Name:RGS14_1
Description:regulator of G protein signaling 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9013  EPDNEW_H9015  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,357,924 - 177,357,984EPDNEW
RGD ID:6871700
Promoter ID:EPDNEW_H9015
Type:initiation region
Name:RGS14_2
Description:regulator of G protein signaling 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9013  EPDNEW_H9014  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,366,866 - 177,366,926EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9996 AgrOrtholog
COSMIC RGS14 COSMIC
Ensembl Genes ENSG00000169220 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000408923 ENTREZGENE
  ENST00000408923.8 UniProtKB/Swiss-Prot
  ENST00000511890 ENTREZGENE
  ENST00000511890.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.167.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.196.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169220 GTEx
HGNC ID HGNC:9996 ENTREZGENE
Human Proteome Map RGS14 Human Proteome Map
InterPro GoLoco_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD1_RGS14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD2_RGS14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS10/12/14-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS14_RGS UniProtKB/Swiss-Prot
  RGS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS_subdom1/3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS_subdomain_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10636 UniProtKB/Swiss-Prot
NCBI Gene 10636 ENTREZGENE
OMIM 602513 OMIM
PANTHER PTHR45945:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  REGULATOR OF G-PROTEIN SIGNALING LOCO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GoLoco UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34366 PharmGKB
PRINTS RGSPROTEIN UniProtKB/Swiss-Prot
PROSITE GOLOCO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GoLoco UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48097 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H0Y8W3 ENTREZGENE, UniProtKB/TrEMBL
  O43565 ENTREZGENE
  O43566 ENTREZGENE
  Q506M1 ENTREZGENE
  Q6ZWA4 ENTREZGENE
  Q8TD62 ENTREZGENE
  RGS14_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O43565 UniProtKB/Swiss-Prot
  Q506M1 UniProtKB/Swiss-Prot
  Q6ZWA4 UniProtKB/Swiss-Prot
  Q8TD62 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-04-18 RGS14  regulator of G protein signaling 14  RGS14  regulator of G-protein signaling 14  Symbol and/or name change 5135510 APPROVED