Human Gene GEMIN2 (ENST00000308317.12_7) from GENCODE V47lift37
  Description: gem nuclear organelle associated protein 2, transcript variant alpha (from RefSeq NM_003616.3)
Gencode Transcript: ENST00000308317.12_7
Gencode Gene: ENSG00000092208.19_18
Transcript (Including UTRs)
   Position: hg19 chr14:39,583,527-39,606,177 Size: 22,651 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr14:39,583,543-39,605,683 Size: 22,141 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:39,583,527-39,606,177)mRNA (may differ from genome)Protein (269 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GEMI2_HUMAN
DESCRIPTION: RecName: Full=Gem-associated protein 2; Short=Gemin-2; AltName: Full=Component of gems 2; AltName: Full=Survival of motor neuron protein-interacting protein 1; Short=SMN-interacting protein 1;
FUNCTION: The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus.
SUBUNIT: Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts directly with GEMIN5.
INTERACTION: Q16637:SMN2; NbExp=12; IntAct=EBI-443648, EBI-395421;
SUBCELLULAR LOCATION: Nucleus, gem. Cytoplasm. Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs. Also found in the cytoplasm.
SIMILARITY: Belongs to the gemin-2 family.
CAUTION: It is uncertain whether Met-1 or Met-12 is the initiator.
SEQUENCE CAUTION: Sequence=CAC16117.2; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: GEMIN2
Diseases sorted by gene-association score: spinal muscular atrophy (6)

-  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: 10.12 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 149.03 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 -1.0016-0.062 Picture PostScript Text
3' UTR -109.80494-0.222 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
IPR007022 - SIP1
IPR017364 - Survival_motor_neuron_Gemin2

Pfam Domains:
PF04938 - Survival motor neuron (SMN) interacting protein 1 (SIP1)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2LEH - NMR MuPIT 3S6N - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O14893
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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 orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

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

Biological Process:
GO:0000245 spliceosomal complex assembly
GO:0000375 RNA splicing, via transesterification reactions
GO:0000387 spliceosomal snRNP assembly
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0051170 nuclear import

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016604 nuclear body
GO:0032797 SMN complex
GO:0034719 SMN-Sm protein complex
GO:0097504 Gemini of coiled bodies


-  Descriptions from all associated GenBank mRNAs
  AF027150 - Homo sapiens survival of motor neuron protein interacting protein 1 (SIP1) mRNA, complete cds.
LF384851 - JP 2014500723-A/192354: Polycomb-Associated Non-Coding RNAs.
BC104968 - Homo sapiens survival of motor neuron protein interacting protein 1, mRNA (cDNA clone MGC:132628 IMAGE:8143971), complete cds.
BC028095 - Homo sapiens cDNA clone IMAGE:5242045.
AK313947 - Homo sapiens cDNA, FLJ94589, Homo sapiens survival of motor neuron protein interacting protein 1(SIP1), mRNA.
KJ892544 - Synthetic construct Homo sapiens clone ccsbBroadEn_01938 GEMIN2 gene, encodes complete protein.
AB037701 - Homo sapiens SIP1-beta mRNA for SMN interacting protein1-beta, complete cds.
AB037702 - Homo sapiens SIP1-gamma mRNA for SMN interacting protein 1-gamma, complete cds.
AB037703 - Homo sapiens SIP1-delta mRNA for SMN interacting protein 1-delta, complete cds.
MA620428 - JP 2018138019-A/192354: Polycomb-Associated Non-Coding RNAs.
LF329364 - JP 2014500723-A/136867: Polycomb-Associated Non-Coding RNAs.
MA564941 - JP 2018138019-A/136867: Polycomb-Associated Non-Coding RNAs.
LF329366 - JP 2014500723-A/136869: Polycomb-Associated Non-Coding RNAs.
LF329368 - JP 2014500723-A/136871: Polycomb-Associated Non-Coding RNAs.
JD166096 - Sequence 147120 from Patent EP1572962.
JD083929 - Sequence 64953 from Patent EP1572962.
MA564943 - JP 2018138019-A/136869: Polycomb-Associated Non-Coding RNAs.
MA564945 - JP 2018138019-A/136871: Polycomb-Associated Non-Coding RNAs.

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

Protein O14893 (Reactome details) participates in the following event(s):

R-HSA-191830 snRNP nuclear import and release
R-HSA-191790 Loading and methylation of Sm proteins onto SMN Complexes
R-HSA-191786 snRNP complex assembly
R-HSA-191763 snRNP:Snurportin complex formation
R-HSA-191784 snRNA Cap hypermethylation
R-HSA-191859 snRNP Assembly
R-HSA-194441 Metabolism of non-coding RNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9W8, ENST00000308317.1, ENST00000308317.10, ENST00000308317.11, ENST00000308317.2, ENST00000308317.3, ENST00000308317.4, ENST00000308317.5, ENST00000308317.6, ENST00000308317.7, ENST00000308317.8, ENST00000308317.9, GEMI2_HUMAN, GEMIN2 , NM_003616, O14893, Q2M3B3, Q9H4F5, Q9NS77, Q9NS78, Q9NS79, SIP1, uc317ogz.1, uc317ogz.2
UCSC ID: ENST00000308317.12_7
RefSeq Accession: NM_003616.3
Protein: O14893 (aka GEMI2_HUMAN)

-  Gene Model Information
  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.