GORASP2 (golgi reassembly stacking protein 2) - Rat Genome Database

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Gene: GORASP2 (golgi reassembly stacking protein 2) Homo sapiens
Analyze
Symbol: GORASP2
Name: golgi reassembly stacking protein 2
RGD ID: 736034
HGNC Page HGNC:17500
Description: Involved in establishment of protein localization to plasma membrane; organelle assembly; and response to endoplasmic reticulum stress. Located in Golgi membrane and endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp434D156; FLJ13139; golgi phosphoprotein 6; golgi reassembly stacking protein 2, 55kDa; Golgi reassembly-stacking protein 2; golgi reassembly-stacking protein of 55 kDa; GOLPH6; GRASP55; GRS2; p59
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC112230.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382170,928,477 - 170,967,130 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2170,928,464 - 170,967,130 (+)EnsemblGRCh38hg38GRCh38
GRCh372171,784,987 - 171,823,640 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362171,493,957 - 171,531,886 (+)NCBINCBI36Build 36hg18NCBI36
Build 342171,611,217 - 171,649,146NCBI
Celera2165,402,395 - 165,440,322 (+)NCBICelera
Cytogenetic Map2q31.1NCBI
HuRef2163,673,462 - 163,712,154 (+)NCBIHuRef
CHM1_12171,791,226 - 171,829,897 (+)NCBICHM1_1
T2T-CHM13v2.02171,405,614 - 171,444,257 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function
protein binding  (IPI,ISO)

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. GRASP55, a second mammalian GRASP protein involved in the stacking of Golgi cisternae in a cell-free system. Shorter J, etal., EMBO J 1999 Sep 15;18(18):4949-60.
Additional References at PubMed
PMID:8125298   PMID:11101516   PMID:11408587   PMID:11739401   PMID:11739402   PMID:11815631   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16189514   PMID:16501559   PMID:16713569  
PMID:16964243   PMID:17081983   PMID:18029348   PMID:18385516   PMID:18434598   PMID:18976975   PMID:19361449   PMID:19734545   PMID:19840934   PMID:20083603   PMID:20608975   PMID:21235525  
PMID:21515684   PMID:21516116   PMID:21832049   PMID:21873635   PMID:21884936   PMID:21900206   PMID:21988832   PMID:22523075   PMID:22863883   PMID:22939629   PMID:23552074   PMID:24136289  
PMID:24227884   PMID:25416956   PMID:25468996   PMID:25701785   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26673895   PMID:27062250   PMID:27107014   PMID:27173435   PMID:27880917  
PMID:28049725   PMID:28067262   PMID:28514442   PMID:28814501   PMID:29225785   PMID:29395067   PMID:29509190   PMID:29568061   PMID:29892012   PMID:30187817   PMID:30194290   PMID:30442766  
PMID:30639242   PMID:30726710   PMID:30894053   PMID:31056421   PMID:31073040   PMID:31102680   PMID:31515488   PMID:31527615   PMID:31604796   PMID:31732153   PMID:31871319   PMID:31915857  
PMID:32067616   PMID:32296183   PMID:32814053   PMID:32994395   PMID:33301566   PMID:33845483   PMID:33864728   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34245671   PMID:34432599  
PMID:34516001   PMID:34591612   PMID:34672954   PMID:34702444   PMID:34709727   PMID:35253629   PMID:35271311   PMID:35312866   PMID:35337019   PMID:35384245   PMID:35509820   PMID:35696571  
PMID:35831314   PMID:35844135   PMID:35914814   PMID:35944360   PMID:35977480   PMID:36012204   PMID:36215168   PMID:36857408   PMID:37232246   PMID:37373263   PMID:37774976   PMID:38117590  


Genomics

Comparative Map Data
GORASP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382170,928,477 - 170,967,130 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2170,928,464 - 170,967,130 (+)EnsemblGRCh38hg38GRCh38
GRCh372171,784,987 - 171,823,640 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362171,493,957 - 171,531,886 (+)NCBINCBI36Build 36hg18NCBI36
Build 342171,611,217 - 171,649,146NCBI
Celera2165,402,395 - 165,440,322 (+)NCBICelera
Cytogenetic Map2q31.1NCBI
HuRef2163,673,462 - 163,712,154 (+)NCBIHuRef
CHM1_12171,791,226 - 171,829,897 (+)NCBICHM1_1
T2T-CHM13v2.02171,405,614 - 171,444,257 (+)NCBIT2T-CHM13v2.0
Gorasp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39270,491,520 - 70,522,069 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl270,491,920 - 70,542,980 (+)EnsemblGRCm39 Ensembl
GRCm38270,661,509 - 70,691,725 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl270,661,576 - 70,712,636 (+)EnsemblGRCm38mm10GRCm38
MGSCv37270,499,566 - 70,529,782 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36270,462,415 - 70,492,582 (+)NCBIMGSCv36mm8
Celera272,327,536 - 72,357,752 (+)NCBICelera
Cytogenetic Map2C2NCBI
cM Map241.82NCBI
Gorasp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8375,882,607 - 75,911,322 (+)NCBIGRCr8
mRatBN7.2355,474,448 - 55,503,570 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl355,474,757 - 55,503,576 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx358,872,179 - 58,900,838 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0367,455,756 - 67,484,415 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0365,218,413 - 65,247,079 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0356,966,654 - 56,995,369 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl356,966,654 - 56,995,369 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0363,767,471 - 63,782,078 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4352,895,147 - 52,923,750 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1352,791,516 - 52,819,788 (+)NCBI
Celera355,025,100 - 55,053,733 (+)NCBICelera
Cytogenetic Map3q22NCBI
Gorasp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554493,854,682 - 3,886,100 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554493,857,097 - 3,886,100 (-)NCBIChiLan1.0ChiLan1.0
GORASP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21373,601,245 - 73,639,510 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B73,615,736 - 73,654,264 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B58,212,365 - 58,251,005 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B175,670,311 - 175,708,531 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B175,670,404 - 175,708,525 (+)Ensemblpanpan1.1panPan2
GORASP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13615,447,717 - 15,485,895 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3615,447,741 - 15,485,809 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3615,458,862 - 15,497,058 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03615,571,188 - 15,609,614 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3615,571,132 - 15,609,798 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13615,660,127 - 15,698,302 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03615,647,824 - 15,686,179 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03615,759,732 - 15,797,917 (+)NCBIUU_Cfam_GSD_1.0
Gorasp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303132,712,576 - 132,744,377 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365091,266,366 - 1,298,046 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365091,266,515 - 1,298,280 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GORASP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1577,048,136 - 77,130,620 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11577,099,308 - 77,130,621 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21586,481,835 - 86,513,706 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GORASP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11056,463,146 - 56,502,381 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1056,463,809 - 56,502,946 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040143,043,701 - 143,083,305 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gorasp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247878,442,290 - 8,475,151 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247878,442,392 - 8,473,045 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GORASP2
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1		 pathogenic
GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1 copy number loss See cases [RCV000052553] Chr2:170444219..172050237 [GRCh38]
Chr2:171300729..172914965 [GRCh37]
Chr2:171008975..172623211 [NCBI36]
Chr2:2q31.1		 pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1		 pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 copy number loss See cases [RCV000054123] Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1		 pathogenic
GRCh38/hg38 2q31.1(chr2:170101430-171243609)x1 copy number loss See cases [RCV000054126] Chr2:170101430..171243609 [GRCh38]
Chr2:170957940..172100119 [GRCh37]
Chr2:170666186..171808365 [NCBI36]
Chr2:2q31.1		 pathogenic
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 copy number loss See cases [RCV000054127] Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1		 pathogenic
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1		 pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_015530.5(GORASP2):c.667C>T (p.Pro223Ser) single nucleotide variant Inborn genetic diseases [RCV003246656] Chr2:170954750 [GRCh38]
Chr2:171811260 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.1309G>A (p.Glu437Lys) single nucleotide variant Inborn genetic diseases [RCV003300735] Chr2:170966080 [GRCh38]
Chr2:171822590 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3 copy number gain not provided [RCV000682159] Chr2:171667051..176832848 [GRCh37]
Chr2:2q31.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2		 pathogenic
NM_015530.5(GORASP2):c.1078C>T (p.Leu360=) single nucleotide variant not provided [RCV000881066] Chr2:170965849 [GRCh38]
Chr2:171822359 [GRCh37]
Chr2:2q31.1		 benign
NM_015530.5(GORASP2):c.1244C>T (p.Thr415Met) single nucleotide variant not provided [RCV000966831] Chr2:170966015 [GRCh38]
Chr2:171822525 [GRCh37]
Chr2:2q31.1		 benign
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NC_000002.11:g.(?_171675102)_(174232392_?)dup duplication not provided [RCV003107721] Chr2:171675102..174232392 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_015530.5(GORASP2):c.875C>T (p.Ser292Phe) single nucleotide variant Inborn genetic diseases [RCV003277551] Chr2:170961714 [GRCh38]
Chr2:171818224 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1 copy number loss 2q24 microdeletion syndrome [RCV002271993] Chr2:160347642..174075851 [GRCh37]
Chr2:2q24.2-31.1		 pathogenic
Single allele deletion Split hand-foot malformation 5 [RCV002264898] Chr2:171524396..178694337 [GRCh37]
Chr2:2q31.1-31.2		 pathogenic
NM_015530.5(GORASP2):c.1238A>C (p.Asp413Ala) single nucleotide variant Inborn genetic diseases [RCV003300628] Chr2:170966009 [GRCh38]
Chr2:171822519 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.613C>T (p.Arg205Cys) single nucleotide variant Inborn genetic diseases [RCV002884027] Chr2:170954696 [GRCh38]
Chr2:171811206 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.104C>T (p.Pro35Leu) single nucleotide variant Inborn genetic diseases [RCV002683476] Chr2:170948390 [GRCh38]
Chr2:171804900 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.895G>C (p.Ala299Pro) single nucleotide variant Inborn genetic diseases [RCV002661818] Chr2:170961734 [GRCh38]
Chr2:171818244 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.1291G>A (p.Asp431Asn) single nucleotide variant Inborn genetic diseases [RCV002888565] Chr2:170966062 [GRCh38]
Chr2:171822572 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.721C>G (p.Pro241Ala) single nucleotide variant Inborn genetic diseases [RCV002983504] Chr2:170956457 [GRCh38]
Chr2:171812967 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.1069C>T (p.Pro357Ser) single nucleotide variant Inborn genetic diseases [RCV002702455] Chr2:170965840 [GRCh38]
Chr2:171822350 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.752G>A (p.Gly251Glu) single nucleotide variant Inborn genetic diseases [RCV002832509] Chr2:170956488 [GRCh38]
Chr2:171812998 [GRCh37]
Chr2:2q31.1		 likely benign
NM_015530.5(GORASP2):c.454C>T (p.Leu152Phe) single nucleotide variant Inborn genetic diseases [RCV002808125] Chr2:170951346 [GRCh38]
Chr2:171807856 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.1198A>G (p.Thr400Ala) single nucleotide variant Inborn genetic diseases [RCV002719164] Chr2:170965969 [GRCh38]
Chr2:171822479 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.1177G>A (p.Ala393Thr) single nucleotide variant Inborn genetic diseases [RCV002936039] Chr2:170965948 [GRCh38]
Chr2:171822458 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.853C>G (p.Gln285Glu) single nucleotide variant Inborn genetic diseases [RCV002898453] Chr2:170961692 [GRCh38]
Chr2:171818202 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.1106C>T (p.Pro369Leu) single nucleotide variant Inborn genetic diseases [RCV003185922] Chr2:170965877 [GRCh38]
Chr2:171822387 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.640T>C (p.Ser214Pro) single nucleotide variant Inborn genetic diseases [RCV003218024] Chr2:170954723 [GRCh38]
Chr2:171811233 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.326A>G (p.Asn109Ser) single nucleotide variant Inborn genetic diseases [RCV003215895] Chr2:170949720 [GRCh38]
Chr2:171806230 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.250G>A (p.Val84Ile) single nucleotide variant Inborn genetic diseases [RCV003192263] Chr2:170949644 [GRCh38]
Chr2:171806154 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.239G>A (p.Arg80Gln) single nucleotide variant Inborn genetic diseases [RCV003357840] Chr2:170949633 [GRCh38]
Chr2:171806143 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.1250C>G (p.Pro417Arg) single nucleotide variant Inborn genetic diseases [RCV003379124] Chr2:170966021 [GRCh38]
Chr2:171822531 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_015530.5(GORASP2):c.1274T>C (p.Val425Ala) single nucleotide variant Inborn genetic diseases [RCV003349908] Chr2:170966045 [GRCh38]
Chr2:171822555 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1 copy number loss not specified [RCV003986346] Chr2:162692199..174452488 [GRCh37]
Chr2:2q24.2-31.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2704
Count of miRNA genes:992
Interacting mature miRNAs:1171
Transcripts:ENST00000234160, ENST00000442798, ENST00000444801, ENST00000452526, ENST00000454751, ENST00000455067, ENST00000471559, ENST00000486498, ENST00000488928, ENST00000493692, ENST00000497674, ENST00000497928
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.

Markers in Region
WI-16146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,822,973 - 171,823,109UniSTSGRCh37
Build 362171,531,219 - 171,531,355RGDNCBI36
Celera2165,439,655 - 165,439,791RGD
Cytogenetic Map2q31.1UniSTS
HuRef2163,711,482 - 163,711,618UniSTS
GeneMap99-GB4 RH Map2564.61UniSTS
Whitehead-RH Map2888.9UniSTS
NIB308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,823,452 - 171,823,632UniSTSGRCh37
Build 362171,531,698 - 171,531,878RGDNCBI36
Celera2165,440,134 - 165,440,314RGD
Cytogenetic Map2q31.1UniSTS
HuRef2163,711,961 - 163,712,141UniSTS
GeneMap99-GB4 RH Map2568.41UniSTS
Whitehead-RH Map2842.4UniSTS
NCBI RH Map21337.4UniSTS
D2S2857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,823,217 - 171,823,349UniSTSGRCh37
Build 362171,531,463 - 171,531,595RGDNCBI36
Celera2165,439,899 - 165,440,031RGD
Cytogenetic Map2q31.1UniSTS
HuRef2163,711,726 - 163,711,858UniSTS
TNG Radiation Hybrid Map295458.0UniSTS
Stanford-G3 RH Map26990.0UniSTS
NCBI RH Map21338.8UniSTS
GeneMap99-G3 RH Map27845.0UniSTS
G20588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,823,393 - 171,823,499UniSTSGRCh37
Build 362171,531,639 - 171,531,745RGDNCBI36
Celera2165,440,075 - 165,440,181RGD
Cytogenetic Map2q31.1UniSTS
HuRef2163,711,902 - 163,712,008UniSTS
A005Y03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,823,393 - 171,823,499UniSTSGRCh37
Build 362171,531,639 - 171,531,745RGDNCBI36
Celera2165,440,075 - 165,440,181RGD
Cytogenetic Map2q31.1UniSTS
HuRef2163,711,902 - 163,712,008UniSTS
GeneMap99-GB4 RH Map2568.31UniSTS
NCBI RH Map21337.4UniSTS
D2S1957E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q31.1UniSTS


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 2430 2461 1702 604 1532 445 4355 2088 3405 403 1448 1607 171 1204 2788 4 1
Low 9 530 24 20 419 20 2 109 329 16 12 6 4 1 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001201428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI052563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG034906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ004408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC399516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000234160   ⟹   ENSP00000234160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2170,929,253 - 170,967,130 (+)Ensembl
RefSeq Acc Id: ENST00000442798   ⟹   ENSP00000399889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2170,929,321 - 170,966,623 (+)Ensembl
RefSeq Acc Id: ENST00000444801   ⟹   ENSP00000413945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2170,929,197 - 170,951,366 (+)Ensembl
RefSeq Acc Id: ENST00000454751   ⟹   ENSP00000398191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2170,929,267 - 170,949,743 (+)Ensembl
RefSeq Acc Id: ENST00000455067   ⟹   ENSP00000401808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2170,929,257 - 170,949,715 (+)Ensembl
RefSeq Acc Id: ENST00000471559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2170,928,464 - 170,956,514 (+)Ensembl
RefSeq Acc Id: ENST00000486498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2170,953,818 - 170,966,601 (+)Ensembl
RefSeq Acc Id: ENST00000488928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2170,950,032 - 170,951,614 (+)Ensembl
RefSeq Acc Id: ENST00000493692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2170,929,253 - 170,965,891 (+)Ensembl
RefSeq Acc Id: ENST00000497674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2170,929,253 - 170,948,761 (+)Ensembl
RefSeq Acc Id: ENST00000497928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2170,929,433 - 170,949,659 (+)Ensembl
RefSeq Acc Id: NM_001201428   ⟹   NP_001188357
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,928,477 - 170,967,130 (+)NCBI
GRCh372171,784,948 - 171,823,645 (+)NCBI
HuRef2163,673,462 - 163,712,154 (+)ENTREZGENE
CHM1_12171,791,226 - 171,829,897 (+)NCBI
T2T-CHM13v2.02171,405,614 - 171,444,257 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015530   ⟹   NP_056345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,929,253 - 170,967,130 (+)NCBI
GRCh372171,784,948 - 171,823,645 (+)ENTREZGENE
GRCh372171,784,948 - 171,823,645 (+)NCBI
Build 362171,493,957 - 171,531,886 (+)NCBI Archive
HuRef2163,673,462 - 163,712,154 (+)ENTREZGENE
CHM1_12171,791,314 - 171,829,897 (+)NCBI
T2T-CHM13v2.02171,406,390 - 171,444,257 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001188357   ⟸   NM_001201428
- Peptide Label: isoform 2
- UniProtKB: B4DNR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_056345   ⟸   NM_015530
- Peptide Label: isoform 1
- UniProtKB: Q9H946 (UniProtKB/Swiss-Prot),   Q96K84 (UniProtKB/Swiss-Prot),   Q96I74 (UniProtKB/Swiss-Prot),   Q53TE3 (UniProtKB/Swiss-Prot),   B4DKT0 (UniProtKB/Swiss-Prot),   Q9UFW4 (UniProtKB/Swiss-Prot),   Q9H8Y8 (UniProtKB/Swiss-Prot),   B4DNR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000398191   ⟸   ENST00000454751
RefSeq Acc Id: ENSP00000401808   ⟸   ENST00000455067
RefSeq Acc Id: ENSP00000399889   ⟸   ENST00000442798
RefSeq Acc Id: ENSP00000234160   ⟸   ENST00000234160
RefSeq Acc Id: ENSP00000413945   ⟸   ENST00000444801
Protein Domains
PDZ GRASP-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H8Y8-F1-model_v2 AlphaFold Q9H8Y8 1-452 view protein structure

Promoters
RGD ID:6862062
Promoter ID:EPDNEW_H4164
Type:initiation region
Name:GORASP2_2
Description:golgi reassembly stacking protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4165  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,928,477 - 170,928,537EPDNEW
RGD ID:6862000
Promoter ID:EPDNEW_H4165
Type:initiation region
Name:GORASP2_1
Description:golgi reassembly stacking protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4164  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,929,272 - 170,929,332EPDNEW
RGD ID:6797521
Promoter ID:HG_KWN:35867
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:OTTHUMT00000333719,   OTTHUMT00000333794,   OTTHUMT00000333796,   OTTHUMT00000333797,   OTTHUMT00000333798,   OTTHUMT00000333799,   OTTHUMT00000333800,   OTTHUMT00000333801,   OTTHUMT00000333802,   UC002UGJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362171,493,151 - 171,494,647 (+)MPROMDB
RGD ID:6851028
Promoter ID:EP73311
Type:initiation region
Name:HS_GORASP2
Description:Golgi reassembly stacking protein 2, 55kDa.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362171,494,009 - 171,494,069EPD
RGD ID:6797524
Promoter ID:HG_KWN:35869
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000333803
Position:
Human AssemblyChrPosition (strand)Source
Build 362171,514,916 - 171,515,416 (+)MPROMDB
RGD ID:6797523
Promoter ID:HG_KWN:35870
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC002UGM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362171,518,566 - 171,519,066 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17500 AgrOrtholog
COSMIC GORASP2 COSMIC
Ensembl Genes ENSG00000115806 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000234160 ENTREZGENE
  ENST00000234160.5 UniProtKB/Swiss-Prot
  ENST00000442798.5 UniProtKB/TrEMBL
  ENST00000444801.5 UniProtKB/TrEMBL
  ENST00000454751.5 UniProtKB/TrEMBL
  ENST00000455067.5 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115806 GTEx
HGNC ID HGNC:17500 ENTREZGENE
Human Proteome Map GORASP2 Human Proteome Map
InterPro GRASP55/65_PDZ UniProtKB/Swiss-Prot
  GRASP55_65 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRASP_PDZ UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26003 UniProtKB/Swiss-Prot
NCBI Gene 26003 ENTREZGENE
OMIM 608693 OMIM
PANTHER GOLGI REASSEMBLY STACKING PROTEIN GRASP UniProtKB/TrEMBL
  GOLGI REASSEMBLY-STACKING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12893 UniProtKB/Swiss-Prot
Pfam GRASP55_65 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38457 PharmGKB
PROSITE PDZ_GRASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PDZ domain-like UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt B4DKT0 ENTREZGENE
  B4DNR1 ENTREZGENE, UniProtKB/TrEMBL
  F8WBR9_HUMAN UniProtKB/TrEMBL
  F8WEG2_HUMAN UniProtKB/TrEMBL
  F8WEH9_HUMAN UniProtKB/TrEMBL
  F8WF79_HUMAN UniProtKB/TrEMBL
  GORS2_HUMAN UniProtKB/Swiss-Prot
  Q53TE3 ENTREZGENE
  Q96I74 ENTREZGENE
  Q96K84 ENTREZGENE
  Q9H8Y8 ENTREZGENE
  Q9H946 ENTREZGENE
  Q9UFW4 ENTREZGENE
UniProt Secondary B4DKT0 UniProtKB/Swiss-Prot
  Q53TE3 UniProtKB/Swiss-Prot
  Q96I74 UniProtKB/Swiss-Prot
  Q96K84 UniProtKB/Swiss-Prot
  Q9H946 UniProtKB/Swiss-Prot
  Q9UFW4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GORASP2  golgi reassembly stacking protein 2    golgi reassembly stacking protein 2, 55kDa  Symbol and/or name change 5135510 APPROVED