Human Gene GORASP2 (uc002ugj.3)
  Description: Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 2, mRNA.
RefSeq Summary (NM_001201428): This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011].
Transcript (Including UTRs)
   Position: hg19 chr2:171,784,948-171,823,643 Size: 38,696 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr2:171,806,109-171,822,640 Size: 16,532 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:171,784,948-171,823,643)mRNA (may differ from genome)Protein (384 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GORS2_HUMAN
DESCRIPTION: RecName: Full=Golgi reassembly-stacking protein 2; Short=GRS2; AltName: Full=Golgi phosphoprotein 6; Short=GOLPH6; AltName: Full=Golgi reassembly-stacking protein of 55 kDa; Short=GRASP55; AltName: Full=p59;
FUNCTION: Plays a role in the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after mitotic breakdown. May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA.
SUBUNIT: Forms a RAB2 effector complex with BLZF1/Golgin 45 in the medial Golgi. Interacts with members of the p24 cargo receptors. Interacts with CNIH and the cytoplasmic domain of transmembrane TGFA, prior its transit in the trans-Golgi. Does not interact with GM130. Interacts with KCTD5. Interacts with TMED2 and TMED3 (By similarity).
INTERACTION: P13569:CFTR; NbExp=3; IntAct=EBI-739467, EBI-349854;
SUBCELLULAR LOCATION: Golgi apparatus membrane; Lipid-anchor. Membrane; Peripheral membrane protein.
PTM: Myristoylated. Myristoylation is essential for the Golgi targeting (By similarity).
PTM: Palmitoylated.
PTM: Phosphorylated in mitotic cells.
SIMILARITY: Belongs to the GORASP family.
SIMILARITY: Contains 1 PDZ (DHR) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GORASP2
CDC HuGE Published Literature: GORASP2
Positive Disease Associations: Cognitive performance , Psychomotor Performance
Related Studies:
  1. Cognitive performance
    Need ,et al. 2009, A Genome-wide Study of Common SNPs and CNVs in Cognitive Performance in the CANTAB battery, Human molecular genetics 2009 18- 23 : 4650-61. [PubMed 19734545]
  2. Psychomotor Performance
    Anna C Need et al. Human molecular genetics 2009, A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB., Human molecular genetics. [PubMed 19734545]

-  MalaCards Disease Associations
  MalaCards Gene Search: GORASP2
Diseases sorted by gene-association score: exudative vitreoretinopathy (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.67 RPKM in Pituitary
Total median expression: 1034.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.50264-0.199 Picture PostScript Text
3' UTR -275.271003-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024958 - GRASP55/65_PDZ
IPR007583 - GRASP55_65
IPR001478 - PDZ

Pfam Domains:
PF04495 - GRASP55/65 PDZ-like domain

SCOP Domains:
50156 - PDZ domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3RLE - X-ray MuPIT 4EDJ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9H8Y8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006996 organelle organization
GO:0007030 Golgi organization

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  LF383697 - JP 2014500723-A/191200: Polycomb-Associated Non-Coding RNAs.
AL117430 - Homo sapiens mRNA; cDNA DKFZp434D156 (from clone DKFZp434D156).
AK125761 - Homo sapiens cDNA FLJ43773 fis, clone TESTI2049857, highly similar to Rattus norvegicus golgi stacking protein.
AK315508 - Homo sapiens cDNA, FLJ96573.
AK023201 - Homo sapiens cDNA FLJ13139 fis, clone NT2RP3003203, moderately similar to Rattus norvegicus golgi stacking protein homolog GRASP55 mRNA.
AK293640 - Homo sapiens cDNA FLJ54595 complete cds, highly similar to Golgi reassembly-stacking protein 2.
AK225810 - Homo sapiens mRNA for golgi reassembly stacking protein 2 variant, clone: FCC129G11.
AK023082 - Homo sapiens cDNA FLJ13020 fis, clone NT2RP3000739, weakly similar to ATROPHIN-1.
AK298020 - Homo sapiens cDNA FLJ55232 complete cds, highly similar to Golgi reassembly-stacking protein 2.
BC007770 - Homo sapiens golgi reassembly stacking protein 2, 55kDa, mRNA (cDNA clone MGC:12892 IMAGE:4298251), complete cds.
BC001408 - Homo sapiens cDNA clone IMAGE:3139680, containing frame-shift errors.
AK296698 - Homo sapiens cDNA FLJ59712 complete cds, highly similar to Golgi reassembly-stacking protein 2.
AK027349 - Homo sapiens cDNA FLJ14443 fis, clone HEMBB1001151, moderately similar to Rattus norvegicus golgi stacking protein homolog GRASP55 mRNA.
AB528359 - Synthetic construct DNA, clone: pF1KB6664, Homo sapiens GORASP2 gene for golgi reassembly stacking protein 2, 55kDa, without stop codon, in Flexi system.
DQ895965 - Synthetic construct Homo sapiens clone IMAGE:100010425; FLH189045.01L; RZPDo839B0164D golgi reassembly stacking protein 2, 55kDa (GORASP2) gene, encodes complete protein.
DQ892715 - Synthetic construct clone IMAGE:100005345; FLH189049.01X; RZPDo839B0174D golgi reassembly stacking protein 2, 55kDa (GORASP2) gene, encodes complete protein.
CU675801 - Synthetic construct Homo sapiens gateway clone IMAGE:100019471 5' read GORASP2 mRNA.
KJ893507 - Synthetic construct Homo sapiens clone ccsbBroadEn_02901 GORASP2 gene, encodes complete protein.
AK298771 - Homo sapiens cDNA FLJ55810 complete cds, highly similar to Golgi reassembly-stacking protein 2.
LF347437 - JP 2014500723-A/154940: Polycomb-Associated Non-Coding RNAs.
AK027202 - Homo sapiens cDNA: FLJ23549 fis, clone LNG08740.
LF347440 - JP 2014500723-A/154943: Polycomb-Associated Non-Coding RNAs.
LF347442 - JP 2014500723-A/154945: Polycomb-Associated Non-Coding RNAs.
LF347446 - JP 2014500723-A/154949: Polycomb-Associated Non-Coding RNAs.
LF347447 - JP 2014500723-A/154950: Polycomb-Associated Non-Coding RNAs.
JD241794 - Sequence 222818 from Patent EP1572962.
LF347448 - JP 2014500723-A/154951: Polycomb-Associated Non-Coding RNAs.
LF347449 - JP 2014500723-A/154952: Polycomb-Associated Non-Coding RNAs.
LF347450 - JP 2014500723-A/154953: Polycomb-Associated Non-Coding RNAs.
JD308695 - Sequence 289719 from Patent EP1572962.
LF347451 - JP 2014500723-A/154954: Polycomb-Associated Non-Coding RNAs.
JD092199 - Sequence 73223 from Patent EP1572962.
JD325595 - Sequence 306619 from Patent EP1572962.
JD247180 - Sequence 228204 from Patent EP1572962.
JD565330 - Sequence 546354 from Patent EP1572962.
MA619274 - JP 2018138019-A/191200: Polycomb-Associated Non-Coding RNAs.
MA583014 - JP 2018138019-A/154940: Polycomb-Associated Non-Coding RNAs.
MA583017 - JP 2018138019-A/154943: Polycomb-Associated Non-Coding RNAs.
MA583019 - JP 2018138019-A/154945: Polycomb-Associated Non-Coding RNAs.
MA583023 - JP 2018138019-A/154949: Polycomb-Associated Non-Coding RNAs.
MA583024 - JP 2018138019-A/154950: Polycomb-Associated Non-Coding RNAs.
MA583025 - JP 2018138019-A/154951: Polycomb-Associated Non-Coding RNAs.
MA583026 - JP 2018138019-A/154952: Polycomb-Associated Non-Coding RNAs.
MA583027 - JP 2018138019-A/154953: Polycomb-Associated Non-Coding RNAs.
MA583028 - JP 2018138019-A/154954: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H8Y8 (Reactome details) participates in the following event(s):

R-HSA-2422927 MAPK3-3 or MAPK1 phosphorylate GORASP2
R-HSA-162658 Golgi Cisternae Pericentriolar Stack Reorganization
R-HSA-68875 Mitotic Prophase
R-HSA-68886 M Phase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: GOLPH6, GORS2_HUMAN, NM_001201428, NP_001188357, Q53TE3, Q96I74, Q96K84, Q9H8Y8, Q9H946, Q9UFW4
UCSC ID: uc002ugj.3
RefSeq Accession: NM_001201428
Protein: Q9H8Y8 (aka GORS2_HUMAN or GR55_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001201428.1
exon count: 10CDS single in 3' UTR: no RNA size: 2436
ORF size: 1155CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2393.00frame shift in genome: no % Coverage: 99.43
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.