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Aliases for GEMIN4 Gene

Aliases for GEMIN4 Gene

  • Gem Nuclear Organelle Associated Protein 4 2 3 5
  • Component Of Gems 4 2 3 4
  • HCC-Associated Protein 1 2 3
  • Gemin-4 3 4
  • P97 3 4
  • Gem (Nuclear Organelle) Associated Protein 4 2
  • Gem-Associated Protein 4 3
  • HHRF-1 3
  • HCAP1 3
  • HC56 3

External Ids for GEMIN4 Gene

Previous GeneCards Identifiers for GEMIN4 Gene

  • GC17U990191
  • GC17M000851
  • GC17M000601
  • GC17M000632
  • GC17M000594
  • GC17M000558
  • GC17M000650
  • GC17M000651
  • GC17M000652
  • GC17M000660
  • GC17M000677
  • GC17M000693
  • GC17M000705

Summaries for GEMIN4 Gene

Entrez Gene Summary for GEMIN4 Gene

  • The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for GEMIN4 Gene

GEMIN4 (Gem Nuclear Organelle Associated Protein 4) is a Protein Coding gene. Among its related pathways are Gene Expression and RNA transport.

UniProtKB/Swiss-Prot for GEMIN4 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 GEMIN4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GEMIN4 Gene

Genomics for GEMIN4 Gene

Regulatory Elements for GEMIN4 Gene

Enhancers for GEMIN4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G001721 1.7 FANTOM5 ENCODE dbSUPER 26.6 -970.0 -970015 4.1 HDGF FOXA2 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 RPA1 SMYD4 GEMIN4 METTL16 ENSG00000263050 PAFAH1B1 SERPINF2 TLCD2 TSR1 RN7SL608P
GH17G001258 1.3 Ensembl ENCODE 26 -505.5 -505505 1.8 SIN3A ZNF2 ZNF416 ZNF143 ZNF207 ZNF548 SP3 REST ZNF579 ZNF610 RPA1 SMYD4 GEMIN4 HIC1 TUSC5 ENSG00000263050 ENSG00000262920 ENSG00000262228 ABR ENSG00000235361
GH17G001267 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.9 -514.3 -514260 1.9 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 GTF3C2 ZNF121 GLIS2 ELK1 GEMIN4 ENSG00000262920 ENSG00000262228 YWHAE SMYD4 RPA1 WDR81 ABR PITPNA BHLHA9
GH17G000393 1.2 Ensembl ENCODE 20 +359.9 359897 1.1 MLX ARID4B DMAP1 YY1 TCF12 SLC30A9 ZNF548 SP5 MXD4 PPARG GEMIN4 LOC100996709 C17orf97
GH17G001453 1.4 ENCODE dbSUPER 16.9 -701.9 -701851 3.7 HDGF PKNOX1 FOXA2 MLX AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 GEMIN4 CRK ENSG00000262228 SMYD4 RPA1 MYO1C LOC101929775
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GEMIN4 on UCSC Golden Path with GeneCards custom track

Promoters for GEMIN4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000089941 1799 1601 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 ZNF143

Genomic Location for GEMIN4 Gene

Chromosome:
17
Start:
744,414 bp from pter
End:
753,999 bp from pter
Size:
9,586 bases
Orientation:
Minus strand

Genomic View for GEMIN4 Gene

Genes around GEMIN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GEMIN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GEMIN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GEMIN4 Gene

Proteins for GEMIN4 Gene

  • Protein details for GEMIN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57678-GEMI4_HUMAN
    Recommended name:
    Gem-associated protein 4
    Protein Accession:
    P57678
    Secondary Accessions:
    • Q9NZS7
    • Q9UG32
    • Q9Y4Q2

    Protein attributes for GEMIN4 Gene

    Size:
    1058 amino acids
    Molecular mass:
    120037 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 GEMIN3 and with several snRNP SM core proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3 and SNRPE. Interacts with PPP4R2.

neXtProt entry for GEMIN4 Gene

Post-translational modifications for GEMIN4 Gene

  • Ubiquitination at isoforms=36, Lys201, and Lys1054
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GEMIN4 Gene

Domains & Families for GEMIN4 Gene

Gene Families for GEMIN4 Gene

Protein Domains for GEMIN4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GEMIN4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GEMIN4: view

No data available for UniProtKB/Swiss-Prot for GEMIN4 Gene

Function for GEMIN4 Gene

Molecular function for GEMIN4 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.

Gene Ontology (GO) - Molecular Function for GEMIN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11714716
genes like me logo Genes that share ontologies with GEMIN4: view

Phenotypes for GEMIN4 Gene

genes like me logo Genes that share phenotypes with GEMIN4: view

Animal Model Products

CRISPR Products

miRNA for GEMIN4 Gene

miRTarBase miRNAs that target GEMIN4

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GEMIN4 Gene

Localization for GEMIN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GEMIN4 Gene

Cytoplasm. Nucleus. Nucleus, nucleolus. Nucleus, gem. Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs and in the nucleolus.

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 GEMIN4 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
peroxisome 2

Gene Ontology (GO) - Cellular Components for GEMIN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA,TAS --
GO:0005737 cytoplasm TAS 10725331
GO:0005829 cytosol TAS,IDA --
genes like me logo Genes that share ontologies with GEMIN4: view

Pathways & Interactions for GEMIN4 Gene

genes like me logo Genes that share pathways with GEMIN4: view

Pathways by source for GEMIN4 Gene

3 Reactome pathways for GEMIN4 Gene
1 KEGG pathway for GEMIN4 Gene

Gene Ontology (GO) - Biological Process for GEMIN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000387 spliceosomal snRNP assembly TAS --
GO:0006364 rRNA processing IEA --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0051170 nuclear import TAS --
genes like me logo Genes that share ontologies with GEMIN4: view

No data available for SIGNOR curated interactions for GEMIN4 Gene

Transcripts for GEMIN4 Gene

Unigene Clusters for GEMIN4 Gene

Gem (nuclear organelle) associated protein 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GEMIN4 Gene

No ASD Table

Relevant External Links for GEMIN4 Gene

GeneLoc Exon Structure for
GEMIN4
ECgene alternative splicing isoforms for
GEMIN4

Expression for GEMIN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GEMIN4 Gene

mRNA differential expression in normal tissues according to GTEx for GEMIN4 Gene

This gene is overexpressed in Testis (x4.5).

Protein differential expression in normal tissues from HIPED for GEMIN4 Gene

This gene is overexpressed in Bone (36.5) and Spleen (18.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GEMIN4 Gene



Protein tissue co-expression partners for GEMIN4 Gene

NURSA nuclear receptor signaling pathways regulating expression of GEMIN4 Gene:

GEMIN4

SOURCE GeneReport for Unigene cluster for GEMIN4 Gene:

Hs.499620

Evidence on tissue expression from TISSUES for GEMIN4 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with GEMIN4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GEMIN4 Gene

Orthologs for GEMIN4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GEMIN4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GEMIN4 35 34
  • 98.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GEMIN4 35 34
  • 85.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GEMIN4 35 34
  • 84.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gemin4 35 16 34
  • 82.04 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gemin4 34
  • 81.44 (n)
oppossum
(Monodelphis domestica)
Mammalia GEMIN4 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GEMIN4 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves GEMIN4 35 34
  • 61.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GEMIN4 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gemin4 34
  • 52.12 (n)
zebrafish
(Danio rerio)
Actinopterygii gemin4 35 34
  • 48.3 (n)
OneToOne
Species where no ortholog for GEMIN4 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 GEMIN4 Gene

ENSEMBL:
Gene Tree for GEMIN4 (if available)
TreeFam:
Gene Tree for GEMIN4 (if available)

Paralogs for GEMIN4 Gene

No data available for Paralogs for GEMIN4 Gene

Variants for GEMIN4 Gene

Sequence variations from dbSNP and Humsavar for GEMIN4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs730882219 Likely pathogenic 745,591(-) TGGCC(C/T)GGATG reference, missense
rs1000006590 -- 754,176(+) GCATA(G/T)GGATG nc-transcript-variant, upstream-variant-2KB
rs1000120687 -- 743,980(+) GGCAA(A/T)AGCTA downstream-variant-500B
rs1000183272 -- 748,765(+) TGGGC(A/C)CAGAG intron-variant
rs1000418146 -- 744,053(+) CCTTT(C/G)GGGGT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for GEMIN4 Gene

Variant ID Type Subtype PubMed ID
dgv3071n100 CNV gain 25217958
dgv3072n100 CNV gain 25217958
dgv3074n100 CNV gain 25217958
dgv5386n54 CNV gain 21841781
dgv5387n54 CNV loss 21841781
dgv5389n54 CNV gain 21841781
esv2422420 CNV duplication 17116639
esv2758673 CNV gain 17122850
esv3378323 CNV duplication 20981092
esv3639625 CNV gain 21293372
esv3639636 CNV gain 21293372
esv3639638 CNV gain 21293372
esv3892944 CNV gain 25118596
nsv1057000 CNV gain 25217958
nsv1063272 CNV gain 25217958
nsv1064955 CNV gain 25217958
nsv1077835 CNV duplication 25765185
nsv457631 CNV gain 19166990
nsv469891 CNV loss 16826518
nsv574075 CNV loss 21841781
nsv574090 CNV gain 21841781

Variation tolerance for GEMIN4 Gene

Residual Variation Intolerance Score: 98.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.26; 85.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GEMIN4 Gene

Human Gene Mutation Database (HGMD)
GEMIN4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GEMIN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GEMIN4 Gene

Disorders for GEMIN4 Gene

Relevant External Links for GEMIN4

Genetic Association Database (GAD)
GEMIN4
Human Genome Epidemiology (HuGE) Navigator
GEMIN4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GEMIN4

No disorders were found for GEMIN4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GEMIN4 Gene

Publications for GEMIN4 Gene

  1. Gemin4: a novel component of the SMN complex that is found in both gems and nucleoli. (PMID: 10725331) Charroux B. … Dreyfuss G. (J. Cell Biol. 2000) 2 3 4 22 64
  2. Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma. (PMID: 19047128) Horikawa Y. … Wu X. (Clin. Cancer Res. 2008) 3 22 46 64
  3. Genetic variation in MicroRNA genes and risk of oral premalignant lesions. (PMID: 19851984) Clague J. … Wu X. (Mol. Carcinog. 2010) 3 46 64
  4. Association of a common AGO1 variant with lung cancer risk: a two-stage case-control study. (PMID: 20721975) Kim J.S. … Park J.Y. (Mol. Carcinog. 2010) 3 46 64
  5. Genetic variations in microRNA-related genes are associated with survival and recurrence in patients with renal cell carcinoma. (PMID: 20732906) Lin J. … Wu X. (Carcinogenesis 2010) 3 46 64

Products for GEMIN4 Gene

Sources for GEMIN4 Gene

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