GPS2 (G protein pathway suppressor 2) - Rat Genome Database

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Gene: GPS2 (G protein pathway suppressor 2) Homo sapiens
Analyze
Symbol: GPS2
Name: G protein pathway suppressor 2
RGD ID: 1317604
HGNC Page HGNC:4550
Description: Enables cyclin binding activity; transcription coactivator activity; and transcription corepressor activity. Involved in negative regulation of JNK cascade; positive regulation of cholesterol efflux; and regulation of transcription by RNA polymerase II. Located in cytosol; mitochondrion; and nucleus. Part of transcription repressor complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AMF-1; GPS-2; MGC104294; MGC119287; MGC119288; MGC119289
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: GPS2P1   GPS2P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,312,661 - 7,315,360 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,311,324 - 7,315,564 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,215,980 - 7,218,679 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,156,702 - 7,159,382 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,156,701 - 7,159,382NCBI
Celera177,241,919 - 7,244,599 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,110,027 - 7,112,707 (-)NCBIHuRef
CHM1_1177,224,746 - 7,227,426 (-)NCBICHM1_1
T2T-CHM13v2.0177,216,645 - 7,219,344 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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. Two human cDNAs, including a homolog of Arabidopsis FUS6 (COP11), suppress G-protein- and mitogen-activated protein kinase-mediated signal transduction in yeast and mammalian cells. Spain BH, etal., Mol Cell Biol 1996 Dec;16(12):6698-706.
Additional References at PubMed
PMID:9325311   PMID:9372953   PMID:10846067   PMID:11119584   PMID:11230166   PMID:11347906   PMID:11486030   PMID:11689660   PMID:11931768   PMID:12477932   PMID:12628926   PMID:14527417  
PMID:14702039   PMID:15159402   PMID:15489334   PMID:16122992   PMID:16169070   PMID:16189514   PMID:16712523   PMID:16980585   PMID:17210713   PMID:17242407   PMID:17353931   PMID:17895379  
PMID:18218630   PMID:18985028   PMID:19481530   PMID:19858209   PMID:19917673   PMID:20159957   PMID:21081666   PMID:21240272   PMID:21258344   PMID:21516116   PMID:21873635   PMID:22190034  
PMID:22190037   PMID:22666460   PMID:23221346   PMID:23752268   PMID:24223774   PMID:24943844   PMID:25139254   PMID:25416956   PMID:25609649   PMID:26070566   PMID:26186194   PMID:26638075  
PMID:26673895   PMID:26687479   PMID:26972000   PMID:27270589   PMID:27460081   PMID:27684187   PMID:28514442   PMID:29395067   PMID:29499132   PMID:29767559   PMID:29892012   PMID:30153049  
PMID:30804502   PMID:31515488   PMID:31980649   PMID:32296183   PMID:32384137   PMID:32694731   PMID:32798719   PMID:33640491   PMID:33961781   PMID:34026424   PMID:34189442   PMID:34373451  
PMID:34597346   PMID:34609770   PMID:35013218   PMID:35140242   PMID:35182466   PMID:35198878   PMID:35271311   PMID:35439318   PMID:35831314   PMID:36724073   PMID:37071682   PMID:37689310  
PMID:38297188   PMID:38360978   PMID:38814500   PMID:39116501  


Genomics

Comparative Map Data
GPS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,312,661 - 7,315,360 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,311,324 - 7,315,564 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,215,980 - 7,218,679 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,156,702 - 7,159,382 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,156,701 - 7,159,382NCBI
Celera177,241,919 - 7,244,599 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,110,027 - 7,112,707 (-)NCBIHuRef
CHM1_1177,224,746 - 7,227,426 (-)NCBICHM1_1
T2T-CHM13v2.0177,216,645 - 7,219,344 (-)NCBIT2T-CHM13v2.0
Gps2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,804,805 - 69,807,882 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1169,804,714 - 69,807,417 (+)EnsemblGRCm39 Ensembl
GRCm381169,913,980 - 69,917,056 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,913,888 - 69,916,591 (+)EnsemblGRCm38mm10GRCm38
MGSCv371169,727,694 - 69,730,093 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361169,730,387 - 69,732,786 (+)NCBIMGSCv36mm8
Celera1177,462,080 - 77,464,479 (+)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.92NCBI
Gps2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81055,136,043 - 55,139,106 (+)NCBIGRCr8
mRatBN7.21054,637,360 - 54,640,542 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1054,637,455 - 54,640,650 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1059,300,045 - 59,302,565 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01058,788,617 - 58,791,137 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01054,295,924 - 54,298,444 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01056,524,327 - 56,527,447 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,524,468 - 56,526,987 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01056,269,440 - 56,272,538 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,757,674 - 56,760,194 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1053,791,431 - 53,793,951 (+)NCBICelera
Cytogenetic Map10q24NCBI
Gps2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,600,829 - 9,603,606 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,600,829 - 9,604,148 (+)NCBIChiLan1.0ChiLan1.0
GPS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21914,909,000 - 14,911,982 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11716,874,828 - 16,878,377 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0177,346,766 - 7,349,682 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1177,333,474 - 7,336,378 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,333,571 - 7,335,871 (-)Ensemblpanpan1.1panPan2
GPS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,273,169 - 32,275,915 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,273,173 - 32,275,580 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,410,901 - 32,413,619 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0532,378,257 - 32,380,975 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl532,378,257 - 32,380,591 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1532,343,689 - 32,346,407 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0532,302,465 - 32,305,182 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0532,479,500 - 32,482,218 (-)NCBIUU_Cfam_GSD_1.0
Gps2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,135,044 - 47,137,738 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936595609,232 - 611,845 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936595608,730 - 611,871 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,664,875 - 52,667,610 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,664,869 - 52,667,643 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23139,940,663 - 139,943,454 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1166,690,831 - 6,694,245 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl166,686,667 - 6,693,804 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605914,716,459 - 14,719,347 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gps2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247869,938,384 - 9,941,235 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247869,938,384 - 9,941,210 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GPS2
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1 copy number loss See cases [RCV000053425] Chr17:7210345..7496934 [GRCh38]
Chr17:7113664..7400253 [GRCh37]
Chr17:7054388..7340977 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3 copy number gain See cases [RCV000133763] Chr17:6958978..7491129 [GRCh38]
Chr17:6862297..7394448 [GRCh37]
Chr17:6803021..7335172 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1		 likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
Single allele duplication Isolated Pierre-Robin syndrome [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
NM_004489.5(GPS2):c.885G>A (p.Met295Ile) single nucleotide variant not specified [RCV004333983] Chr17:7313044 [GRCh38]
Chr17:7216363 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1		 drug response
GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1 copy number loss See cases [RCV000512276] Chr17:7094070..7414448 [GRCh37]
Chr17:17p13.1		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.10:g.7124585_7400253dup duplication Robin sequence [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1		 uncertain significance
Single allele duplication not provided [RCV000677924] Chr17:7185264..7240701 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:7013365-7265208)x1 copy number loss not provided [RCV000739389] Chr17:7013365..7265208 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004489.5(GPS2):c.318-6C>T single nucleotide variant not provided [RCV000947762] Chr17:7314165 [GRCh38]
Chr17:7217484 [GRCh37]
Chr17:17p13.1		 benign
NM_004489.5(GPS2):c.95-4C>T single nucleotide variant not provided [RCV000968735] Chr17:7314601 [GRCh38]
Chr17:7217920 [GRCh37]
Chr17:17p13.1		 benign
GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1 copy number loss not provided [RCV001006866] Chr17:6800893..7304696 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3 copy number gain not provided [RCV000849961] Chr17:6826243..7311408 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004489.5(GPS2):c.866C>A (p.Pro289His) single nucleotide variant not specified [RCV004301143] Chr17:7313063 [GRCh38]
Chr17:7216382 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7123304)_(7606804_?)del deletion Common variable immunodeficiency [RCV003107751] Chr17:7123304..7606804 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1 copy number loss not provided [RCV001259300] Chr17:7014481..7283233 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6328780)_(7606804_?)dup duplication Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] Chr17:6328780..7606804 [GRCh37]
Chr17:17p13.2-13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7020054-8086290) copy number loss not specified [RCV002052585] Chr17:7020054..8086290 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7120455)_(8151423_?)del deletion Li-Fraumeni syndrome [RCV003111420] Chr17:7120455..8151423 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7123304)_(8193254_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] Chr17:7123304..8193254 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_004489.5(GPS2):c.892G>C (p.Ala298Pro) single nucleotide variant not specified [RCV004158142] Chr17:7313037 [GRCh38]
Chr17:7216356 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004489.5(GPS2):c.377C>A (p.Thr126Asn) single nucleotide variant not specified [RCV004178557] Chr17:7314100 [GRCh38]
Chr17:7217419 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004489.5(GPS2):c.382C>T (p.Leu128Phe) single nucleotide variant not specified [RCV004080965] Chr17:7314095 [GRCh38]
Chr17:7217414 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004489.5(GPS2):c.28C>A (p.Leu10Ile) single nucleotide variant not specified [RCV004126253] Chr17:7315025 [GRCh38]
Chr17:7218344 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004489.5(GPS2):c.688T>C (p.Tyr230His) single nucleotide variant not specified [RCV004136619] Chr17:7313416 [GRCh38]
Chr17:7216735 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004489.5(GPS2):c.457A>G (p.Met153Val) single nucleotide variant not specified [RCV004103156] Chr17:7313929 [GRCh38]
Chr17:7217248 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1 copy number loss not provided [RCV003222936] Chr17:7004894..7766789 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1 copy number loss not specified [RCV003987240] Chr17:7002380..7469251 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_004489.5(GPS2):c.604C>G (p.Pro202Ala) single nucleotide variant not specified [RCV004393457] Chr17:7313598 [GRCh38]
Chr17:7216917 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7123304)_(7360042_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV004581341] Chr17:7123304..7360042 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_422368)_(8285628_?)dup duplication not provided [RCV004581443] Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1		 uncertain significance
Single allele deletion Faundes-Banka syndrome [RCV004577981] Chr17:7004634..7232940 [GRCh37]
Chr17:17p13.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4653
Count of miRNA genes:944
Interacting mature miRNAs:1154
Transcripts:ENST00000380728, ENST00000389167, ENST00000391950, ENST00000570780, ENST00000571098, ENST00000571569, ENST00000571695, ENST00000571697, ENST00000572172, ENST00000572363, ENST00000572707, ENST00000573059, ENST00000573684, ENST00000573807, ENST00000574201, ENST00000574458, ENST00000577040
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407322354GWAS971330_Hsex hormone-binding globulin measurement QTL GWAS971330 (human)5e-14sex hormone-binding globulin measurement1773137807313781Human
407165075GWAS814051_Halkaline phosphatase measurement QTL GWAS814051 (human)8e-51alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)1773137807313781Human
407308207GWAS957183_Hlow density lipoprotein cholesterol measurement QTL GWAS957183 (human)3e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1773137807313781Human
407268812GWAS917788_Hapolipoprotein B measurement QTL GWAS917788 (human)6e-12apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1773137807313781Human
407168442GWAS817418_Halkaline phosphatase measurement QTL GWAS817418 (human)1e-80alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)1773137807313781Human

Markers in Region
RH78284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,219,182 - 7,219,306UniSTSGRCh37
Build 36177,159,906 - 7,160,030RGDNCBI36
Celera177,245,123 - 7,245,247RGD
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map17p13UniSTS
HuRef177,113,231 - 7,113,355UniSTS
GeneMap99-GB4 RH Map1753.39UniSTS
STS-T79836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,218,952 - 7,219,198UniSTSGRCh37
Build 36177,159,676 - 7,159,922RGDNCBI36
Celera177,244,893 - 7,245,139RGD
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map17p13UniSTS
HuRef177,113,001 - 7,113,247UniSTS
GeneMap99-GB4 RH Map1745.95UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7304 6470 53 3734 1 851 1743 1617 174 1

Sequence


Ensembl Acc Id: ENST00000380728   ⟹   ENSP00000370104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,312,661 - 7,315,360 (-)Ensembl
Ensembl Acc Id: ENST00000389167   ⟹   ENSP00000379841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,312,660 - 7,315,343 (-)Ensembl
Ensembl Acc Id: ENST00000570780   ⟹   ENSP00000460836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,311,324 - 7,315,123 (-)Ensembl
Ensembl Acc Id: ENST00000571098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,313,575 - 7,315,497 (-)Ensembl
Ensembl Acc Id: ENST00000571569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,312,659 - 7,315,328 (-)Ensembl
Ensembl Acc Id: ENST00000571695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,314,041 - 7,314,818 (-)Ensembl
Ensembl Acc Id: ENST00000571697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,312,696 - 7,315,564 (-)Ensembl
Ensembl Acc Id: ENST00000572172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,312,659 - 7,315,321 (-)Ensembl
Ensembl Acc Id: ENST00000572363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,313,380 - 7,315,407 (-)Ensembl
Ensembl Acc Id: ENST00000572707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,313,670 - 7,315,120 (-)Ensembl
Ensembl Acc Id: ENST00000573059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,313,666 - 7,315,293 (-)Ensembl
Ensembl Acc Id: ENST00000573684   ⟹   ENSP00000458837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,312,660 - 7,313,721 (-)Ensembl
Ensembl Acc Id: ENST00000573807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,312,659 - 7,313,757 (-)Ensembl
Ensembl Acc Id: ENST00000574201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,314,143 - 7,315,348 (-)Ensembl
Ensembl Acc Id: ENST00000574458   ⟹   ENSP00000459357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,312,661 - 7,313,270 (-)Ensembl
Ensembl Acc Id: ENST00000577040   ⟹   ENSP00000461624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,313,238 - 7,315,322 (-)Ensembl
RefSeq Acc Id: NM_004489   ⟹   NP_004480
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,312,661 - 7,315,360 (-)NCBI
GRCh37177,215,978 - 7,218,658 (-)ENTREZGENE
Build 36177,156,702 - 7,159,382 (-)NCBI Archive
HuRef177,110,027 - 7,112,707 (-)ENTREZGENE
CHM1_1177,224,746 - 7,227,426 (-)NCBI
T2T-CHM13v2.0177,216,645 - 7,219,344 (-)NCBI
Sequence:
RefSeq Acc Id: NP_004480   ⟸   NM_004489
- UniProtKB: B4DXA1 (UniProtKB/Swiss-Prot),   Q6FHM8 (UniProtKB/Swiss-Prot),   Q13227 (UniProtKB/Swiss-Prot),   I3L3Y9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000460836   ⟸   ENST00000570780
Ensembl Acc Id: ENSP00000379841   ⟸   ENST00000389167
Ensembl Acc Id: ENSP00000458837   ⟸   ENST00000573684
Ensembl Acc Id: ENSP00000459357   ⟸   ENST00000574458
Ensembl Acc Id: ENSP00000461624   ⟸   ENST00000577040
Ensembl Acc Id: ENSP00000370104   ⟸   ENST00000380728

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13227-F1-model_v2 AlphaFold Q13227 1-327 view protein structure

Promoters
RGD ID:6793942
Promoter ID:HG_KWN:24865
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:ENST00000380728,   UC002GFV.1,   UC002GFW.1,   UC010CME.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,158,631 - 7,160,327 (-)MPROMDB
RGD ID:7233695
Promoter ID:EPDNEW_H22593
Type:initiation region
Name:GPS2_4
Description:G protein pathway suppressor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22594  EPDNEW_H22595  EPDNEW_H22596  EPDNEW_H22597  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,312,704 - 7,312,764EPDNEW
RGD ID:7233697
Promoter ID:EPDNEW_H22594
Type:initiation region
Name:GPS2_5
Description:G protein pathway suppressor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22593  EPDNEW_H22595  EPDNEW_H22596  EPDNEW_H22597  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,313,073 - 7,313,133EPDNEW
RGD ID:7233699
Promoter ID:EPDNEW_H22595
Type:initiation region
Name:GPS2_3
Description:G protein pathway suppressor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22593  EPDNEW_H22594  EPDNEW_H22596  EPDNEW_H22597  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,314,724 - 7,314,784EPDNEW
RGD ID:7233701
Promoter ID:EPDNEW_H22596
Type:initiation region
Name:GPS2_2
Description:G protein pathway suppressor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22593  EPDNEW_H22594  EPDNEW_H22595  EPDNEW_H22597  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,315,114 - 7,315,174EPDNEW
RGD ID:7233703
Promoter ID:EPDNEW_H22597
Type:initiation region
Name:GPS2_1
Description:G protein pathway suppressor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22593  EPDNEW_H22594  EPDNEW_H22595  EPDNEW_H22596  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,315,360 - 7,315,420EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4550 AgrOrtholog
COSMIC GPS2 COSMIC
Ensembl Genes ENSG00000132522 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000288325 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000380728 ENTREZGENE
  ENST00000380728.7 UniProtKB/Swiss-Prot
  ENST00000389167.9 UniProtKB/Swiss-Prot
  ENST00000570780.5 UniProtKB/TrEMBL
  ENST00000573684.5 UniProtKB/TrEMBL
  ENST00000574458.1 UniProtKB/TrEMBL
  ENST00000577040.2 UniProtKB/TrEMBL
  ENST00000672046.1 UniProtKB/Swiss-Prot
  ENST00000672369.1 UniProtKB/TrEMBL
  ENST00000672439.1 UniProtKB/TrEMBL
  ENST00000673085.1 UniProtKB/TrEMBL
  ENST00000673095.1 UniProtKB/TrEMBL
  ENST00000673265.1 UniProtKB/Swiss-Prot
GTEx ENSG00000132522 GTEx
  ENSG00000288325 GTEx
HGNC ID HGNC:4550 ENTREZGENE
Human Proteome Map GPS2 Human Proteome Map
InterPro GPS2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2874 UniProtKB/Swiss-Prot
NCBI Gene 2874 ENTREZGENE
OMIM 601935 OMIM
PANTHER G PROTEIN PATHWAY SUPPRESSOR 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22654 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam G_path_suppress UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28945 PharmGKB
UniProt B4DXA1 ENTREZGENE
  GPS2_HUMAN UniProtKB/Swiss-Prot
  I3L1H4_HUMAN UniProtKB/TrEMBL
  I3L242_HUMAN UniProtKB/TrEMBL
  I3L3Y9 ENTREZGENE, UniProtKB/TrEMBL
  I3L4X7_HUMAN UniProtKB/TrEMBL
  Q13227 ENTREZGENE
  Q3SY98_HUMAN UniProtKB/TrEMBL
  Q6FHM8 ENTREZGENE
UniProt Secondary B4DXA1 UniProtKB/Swiss-Prot
  Q6FHM8 UniProtKB/Swiss-Prot