This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with t... See more...

Aliases for GEMIN2 Gene

Aliases for GEMIN2 Gene

  • Gem Nuclear Organelle Associated Protein 2 2 3 5
  • Survival Of Motor Neuron Protein Interacting Protein 1 2 3
  • Gem-Associated Protein 2 3 4
  • Component Of Gems 2 3 4
  • Gemin-2 3 4
  • SIP1 3 4
  • Survival Of Motor Neuron Protein-Interacting Protein 1 4
  • Gem (Nuclear Organelle) Associated Protein 2 2
  • SMN Interacting Protein 1-Delta 3
  • SMN-Interacting Protein 1 4
  • SIP1-Delta 3

External Ids for GEMIN2 Gene

Previous HGNC Symbols for GEMIN2 Gene

  • SIP1

Previous GeneCards Identifiers for GEMIN2 Gene

  • GC14P039584

Summaries for GEMIN2 Gene

Entrez Gene Summary for GEMIN2 Gene

  • This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011]

GeneCards Summary for GEMIN2 Gene

GEMIN2 (Gem Nuclear Organelle Associated Protein 2) is a Protein Coding gene. Diseases associated with GEMIN2 include Spinal Muscular Atrophy and Mowat-Wilson Syndrome. Among its related pathways are Transport of the SLBP independent Mature mRNA and Gene Expression.

UniProtKB/Swiss-Prot Summary for GEMIN2 Gene

  • The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.

Gene Wiki entry for GEMIN2 Gene

Additional gene information for GEMIN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GEMIN2 Gene

Genomics for GEMIN2 Gene

GeneHancer (GH) Regulatory Elements for GEMIN2 Gene

Promoters and enhancers for GEMIN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J039113 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.3 260 2.2 ZBTB40 ZNF217 NRF1 POLR2G POLR2A ZBTB11 ZBTB25 MYC CHD1 TGIF2 GEMIN2 LOC105370459 lnc-SEC23A-3 PNN MIA2 SEC23A TRAPPC6B
GH14J039173 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.2 +60.2 60178 5.6 EP300 FOXK2 ZBTB40 ZNF217 TCF12 MYC NRF1 POLR2G SP1 NCOR1 PNN ENSG00000259083 SEC23A RPL7AP2 GEMIN2 ENSG00000271424 FBXO33 TRAPPC6B MIA2 lnc-TRAPPC6B-3
GH14J039145 Enhancer 1.1 Ensembl ENCODE 12.3 +31.4 31416 1.1 FOXK2 NCOR1 KDM6A TCF7 AFF1 MYC CTBP1 SKI TEAD1 ZBTB26 piR-57460-177 SEC23A GEMIN2 MIA2 TRAPPC6B ENSG00000285830
GH14J039374 Enhancer 0.8 Ensembl ENCODE 16 +262.0 261978 4 POLR2G RBM22 NFE2 PLRG1 JUND FOS HDAC2 ZFP91 MAFG GATA2 MIA2 PNN GEMIN2 FBXO33 SEC23A ENSG00000271424 lnc-FBXO33-3 lnc-PNN-4 ENSG00000259100
GH14J039062 Enhancer 0.9 Ensembl ENCODE 11.3 -53.2 -53222 1.2 EP300 KLF9 SRF ARNT RBM22 ELF1 ZGPAT BMI1 NFATC3 ATF2 SEC23A GEMIN2 lnc-TRAPPC6B-5 lnc-SEC23A-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GEMIN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GEMIN2

Genomic Locations for GEMIN2 Gene

Genomic Locations for GEMIN2 Gene
chr14:39,114,223-39,136,973
(GRCh38/hg38)
Size:
22,751 bases
Orientation:
Plus strand
chr14:39,583,427-39,606,177
(GRCh37/hg19)
Size:
22,751 bases
Orientation:
Plus strand

Genomic View for GEMIN2 Gene

Genes around GEMIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GEMIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GEMIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GEMIN2 Gene

Proteins for GEMIN2 Gene

  • Protein details for GEMIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14893-GEMI2_HUMAN
    Recommended name:
    Gem-associated protein 2
    Protein Accession:
    O14893
    Secondary Accessions:
    • B2R9W8
    • Q2M3B3
    • Q9H4F5
    • Q9NS77
    • Q9NS78
    • Q9NS79

    Protein attributes for GEMIN2 Gene

    Size:
    280 amino acids
    Molecular mass:
    31585 Da
    Quaternary structure:
    • Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG. Interacts directly with GEMIN5.
    SequenceCaution:
    • Sequence=CAC16117.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GEMIN2 Gene

    Alternative splice isoforms for GEMIN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GEMIN2 Gene

Post-translational modifications for GEMIN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GEMIN2 Gene

Domains & Families for GEMIN2 Gene

Gene Families for GEMIN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GEMIN2 Gene

Blocks:
  • Survival motor neuron interacting protein 1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GEMIN2 Gene

GenScript: Design optimal peptide antigens:
  • Gemin-2 (GEMI2_HUMAN)
  • Survival interacting protein 1 (Q9H4F4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14893

UniProtKB/Swiss-Prot:

GEMI2_HUMAN :
  • Belongs to the gemin-2 family.
Family:
  • Belongs to the gemin-2 family.
genes like me logo Genes that share domains with GEMIN2: view

Function for GEMIN2 Gene

Molecular function for GEMIN2 Gene

UniProtKB/Swiss-Prot Function:
The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.

Phenotypes From GWAS Catalog for GEMIN2 Gene

Gene Ontology (GO) - Molecular Function for GEMIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11714716
genes like me logo Genes that share ontologies with GEMIN2: view
genes like me logo Genes that share phenotypes with GEMIN2: view

Animal Models for GEMIN2 Gene

MGI Knock Outs for GEMIN2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GEMIN2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GEMIN2 Gene

Localization for GEMIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GEMIN2 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GEMIN2 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GEMIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,TAS 21873635
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IBA 21873635
genes like me logo Genes that share ontologies with GEMIN2: view

Pathways & Interactions for GEMIN2 Gene

genes like me logo Genes that share pathways with GEMIN2: view

Pathways by source for GEMIN2 Gene

3 Reactome pathways for GEMIN2 Gene
1 KEGG pathway for GEMIN2 Gene

Gene Ontology (GO) - Biological Process for GEMIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly IEA --
GO:0000375 RNA splicing, via transesterification reactions TAS 9323129
GO:0000387 spliceosomal snRNP assembly TAS,IEA --
GO:0006397 mRNA processing IEA,TAS 9323130
GO:0008380 RNA splicing TAS,IEA 9323129
genes like me logo Genes that share ontologies with GEMIN2: view

No data available for SIGNOR curated interactions for GEMIN2 Gene

Drugs & Compounds for GEMIN2 Gene

(1) Drugs for GEMIN2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for GEMIN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GEMIN2: view

Transcripts for GEMIN2 Gene

mRNA/cDNA for GEMIN2 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GEMIN2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GEMIN2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: -
SP2: - -
SP3: - -
SP4: - - -
SP5:

Relevant External Links for GEMIN2 Gene

GeneLoc Exon Structure for
GEMIN2

Expression for GEMIN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GEMIN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GEMIN2 Gene

This gene is overexpressed in Bone (48.4), Breast (8.6), and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GEMIN2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GEMIN2

SOURCE GeneReport for Unigene cluster for GEMIN2 Gene:

Hs.652307

Evidence on tissue expression from TISSUES for GEMIN2 Gene

  • Nervous system(4.5)
  • Muscle(4.2)
  • Liver(4.1)
  • Heart(3.4)
genes like me logo Genes that share expression patterns with GEMIN2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GEMIN2 Gene

Orthologs for GEMIN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GEMIN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIP1 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GEMIN2 31 30
  • 92.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GEMIN2 31 30
  • 92.26 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gemin2 30
  • 89.96 (n)
mouse
(Mus musculus)
Mammalia Gemin2 17 31 30
  • 89.34 (n)
oppossum
(Monodelphis domestica)
Mammalia GEMIN2 31
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 83 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves GEMIN2 31 30
  • 75.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GEMIN2 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gemin2 30
  • 71.15 (n)
Str.3557 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3305 30
zebrafish
(Danio rerio)
Actinopterygii gemin2 31 30
  • 68.12 (n)
OneToOne
wufc52a05 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1671 30
fruit fly
(Drosophila melanogaster)
Insecta Gem2 31 30
  • 42.9 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005413 30
  • 42.76 (n)
worm
(Caenorhabditis elegans)
Secernentea smi-1 31
  • 25 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToOne
Species where no ortholog for GEMIN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GEMIN2 Gene

ENSEMBL:
Gene Tree for GEMIN2 (if available)
TreeFam:
Gene Tree for GEMIN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GEMIN2: view image

Paralogs for GEMIN2 Gene

Pseudogenes.org Pseudogenes for GEMIN2 Gene

genes like me logo Genes that share paralogs with GEMIN2: view

No data available for Paralogs for GEMIN2 Gene

Variants for GEMIN2 Gene

Additional dbSNP identifiers (rs#s) for GEMIN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GEMIN2 Gene

Variant ID Type Subtype PubMed ID
nsv1038622 CNV gain 25217958
nsv1051247 CNV gain 25217958
nsv1138291 CNV deletion 24896259

Variation tolerance for GEMIN2 Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.23; 97.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GEMIN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GEMIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GEMIN2 Gene

Disorders for GEMIN2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for GEMIN2 Gene - From: GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy
  • progressive muscular atrophy
mowat-wilson syndrome
  • mws
muscular atrophy
  • amyotrophia
spinal muscular atrophy, type i
  • sma1
survival motor neuron spinal muscular atrophy
  • spinal muscular atrophies of childhood
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GEMIN2

genes like me logo Genes that share disorders with GEMIN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GEMIN2 Gene

Publications for GEMIN2 Gene

  1. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. (PMID: 9323129) Liu Q … Dreyfuss G (Cell 1997) 2 3 4 23 54
  2. Increased expression level of the splicing variant of SIP1 in motor neuron diseases. (PMID: 11943600) Aerbajinai W … Tsukahara T (The international journal of biochemistry & cell biology 2002) 3 4 23 54
  3. A cell system with targeted disruption of the SMN gene: functional conservation of the SMN protein and dependence of Gemin2 on SMN. (PMID: 11121410) Wang J … Dreyfuss G (The Journal of biological chemistry 2001) 2 3 23 54
  4. An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA). (PMID: 10909848) Helmken C … Wirth B (European journal of human genetics : EJHG 2000) 3 4 23 54
  5. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. (PMID: 9323130) Fischer U … Dreyfuss G (Cell 1997) 2 3 23 54

Products for GEMIN2 Gene

Sources for GEMIN2 Gene