GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002] See more...

Aliases for GEMIN6 Gene

Aliases for GEMIN6 Gene

  • Gem Nuclear Organelle Associated Protein 6 2 3 5
  • Gem-Associated Protein 6 3 4
  • Gemin-6 3 4
  • SIP2 3 4
  • Gem (Nuclear Organelle) Associated Protein 6 2

External Ids for GEMIN6 Gene

Previous GeneCards Identifiers for GEMIN6 Gene

  • GC02P038970
  • GC02P039152
  • GC02P038936
  • GC02P038979
  • GC02P038916
  • GC02P038832
  • GC02P038859
  • GC02P038744

Summaries for GEMIN6 Gene

Entrez Gene Summary for GEMIN6 Gene

  • GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002]

GeneCards Summary for GEMIN6 Gene

GEMIN6 (Gem Nuclear Organelle Associated Protein 6) is a Protein Coding gene. Diseases associated with GEMIN6 include Lateral Sinus Thrombosis. Among its related pathways are Transport of the SLBP independent Mature mRNA and Gene Expression.

UniProtKB/Swiss-Prot Summary for GEMIN6 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 GEMIN6 Gene

Additional gene information for GEMIN6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GEMIN6 Gene

Genomics for GEMIN6 Gene

GeneHancer (GH) Regulatory Elements for GEMIN6 Gene

Promoters and enhancers for GEMIN6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GEMIN6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GEMIN6

Top Transcription factor binding sites by QIAGEN in the GEMIN6 gene promoter:
  • ATF6
  • Evi-1
  • FOXI1
  • HFH-3
  • HSF2
  • Nkx5-1
  • Pax-2
  • Pax-2a
  • POU3F2

Genomic Locations for GEMIN6 Gene

Genomic Locations for GEMIN6 Gene
chr2:38,751,534-38,785,002
(GRCh38/hg38)
Size:
33,469 bases
Orientation:
Plus strand
chr2:38,978,676-39,012,142
(GRCh37/hg19)
Size:
33,467 bases
Orientation:
Plus strand

Genomic View for GEMIN6 Gene

Genes around GEMIN6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GEMIN6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GEMIN6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GEMIN6 Gene

Proteins for GEMIN6 Gene

  • Protein details for GEMIN6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXD5-GEMI6_HUMAN
    Recommended name:
    Gem-associated protein 6
    Protein Accession:
    Q8WXD5
    Secondary Accessions:
    • B2RDP8
    • Q53SI5
    • Q8WVB4
    • Q9H5G6

    Protein attributes for GEMIN6 Gene

    Size:
    167 amino acids
    Molecular mass:
    18824 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 GEMIN7, SNRPB, SNRPD2, SNRPD3 and SNRPE.
    SequenceCaution:
    • Sequence=BAB15660.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GEMIN6 Gene

neXtProt entry for GEMIN6 Gene

Post-translational modifications for GEMIN6 Gene

  • Ubiquitination at Lys108 and Lys112
  • Modification sites at PhosphoSitePlus

Other Protein References for GEMIN6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GEMIN6 Gene

Domains & Families for GEMIN6 Gene

Gene Families for GEMIN6 Gene

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

Protein Domains for GEMIN6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GEMIN6 Gene

GenScript: Design optimal peptide antigens:
  • SIP2 (GEMI6_HUMAN)
genes like me logo Genes that share domains with GEMIN6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GEMIN6 Gene

Function for GEMIN6 Gene

Molecular function for GEMIN6 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 GEMIN6 Gene

Gene Ontology (GO) - Molecular Function for GEMIN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11748230
genes like me logo Genes that share ontologies with GEMIN6: view
genes like me logo Genes that share phenotypes with GEMIN6: view

Animal Model Products

CRISPR Products

miRNA for GEMIN6 Gene

miRTarBase miRNAs that target GEMIN6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GEMIN6 Gene

Localization for GEMIN6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GEMIN6 Gene

Nucleus, nucleoplasm. Nucleus, gem. Cytoplasm. Note=Found both in the nucleoplasm and in nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. 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 GEMIN6 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GEMIN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 11748230
GO:0005829 cytosol TAS --
GO:0016604 nuclear body IDA 11748230
genes like me logo Genes that share ontologies with GEMIN6: view

Pathways & Interactions for GEMIN6 Gene

genes like me logo Genes that share pathways with GEMIN6: view

Pathways by source for GEMIN6 Gene

3 Reactome pathways for GEMIN6 Gene
1 KEGG pathway for GEMIN6 Gene

Gene Ontology (GO) - Biological Process for GEMIN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly IEA --
GO:0000387 spliceosomal snRNP assembly IBA,TAS 11748230
GO:0000398 mRNA splicing, via spliceosome TAS 11748230
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with GEMIN6: view

No data available for SIGNOR curated interactions for GEMIN6 Gene

Drugs & Compounds for GEMIN6 Gene

No Compound Related Data Available

Transcripts for GEMIN6 Gene

mRNA/cDNA for GEMIN6 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GEMIN6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c
SP1: -
SP2:
SP3: - -

Relevant External Links for GEMIN6 Gene

GeneLoc Exon Structure for
GEMIN6

Expression for GEMIN6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GEMIN6 Gene

Protein differential expression in normal tissues from HIPED for GEMIN6 Gene

This gene is overexpressed in Bone (60.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GEMIN6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GEMIN6

SOURCE GeneReport for Unigene cluster for GEMIN6 Gene:

Hs.143818

Evidence on tissue expression from TISSUES for GEMIN6 Gene

  • Intestine(4.2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with GEMIN6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 GEMIN6 Gene

Orthologs for GEMIN6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GEMIN6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GEMIN6 31 30
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GEMIN6 31 30
  • 92.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GEMIN6 31 30
  • 91.57 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gemin6 30
  • 87.35 (n)
mouse
(Mus musculus)
Mammalia Gemin6 31 30
  • 86.75 (n)
OneToOne
Gemin6-ps 17
oppossum
(Monodelphis domestica)
Mammalia GEMIN6 31
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GEMIN6 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GEMIN6 31 30
  • 63.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GEMIN6 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gemin6 30
  • 63.39 (n)
zebrafish
(Danio rerio)
Actinopterygii GEMIN6 31
  • 37 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToOne
Species where no ortholog for GEMIN6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GEMIN6 Gene

ENSEMBL:
Gene Tree for GEMIN6 (if available)
TreeFam:
Gene Tree for GEMIN6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GEMIN6: view image

Paralogs for GEMIN6 Gene

No data available for Paralogs for GEMIN6 Gene

Variants for GEMIN6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GEMIN6 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1056104 - p.Gly140Asp

Additional dbSNP identifiers (rs#s) for GEMIN6 Gene

Structural Variations from Database of Genomic Variants (DGV) for GEMIN6 Gene

Variant ID Type Subtype PubMed ID
nsv1014616 CNV loss 25217958
nsv9646 CNV loss 18304495

Variation tolerance for GEMIN6 Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.40; 77.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GEMIN6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GEMIN6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GEMIN6 Gene

Disorders for GEMIN6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GEMIN6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lateral sinus thrombosis
  • thrombosis of lateral venous sinus
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GEMIN6

genes like me logo Genes that share disorders with GEMIN6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GEMIN6 Gene

Publications for GEMIN6 Gene

  1. Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component. (PMID: 11748230) Pellizzoni L … Dreyfuss G (The Journal of biological chemistry 2002) 2 3 4 54
  2. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PMID: 18984161) Chari A … Fischer U (Cell 2008) 3 4 54
  3. Gemin8 is required for the architecture and function of the survival motor neuron complex. (PMID: 17023415) Carissimi C … Pellizzoni L (The Journal of biological chemistry 2006) 3 23 54
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54
  5. The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure. (PMID: 15939020) Ma Y … Van Duyne GD (Structure (London, England : 1993) 2005) 3 4 54

Products for GEMIN6 Gene

Sources for GEMIN6 Gene