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 spliceos... See more...

Aliases for GEMIN4 Gene

Aliases for GEMIN4 Gene

  • Gem Nuclear Organelle Associated Protein 4 2 3 5
  • Component Of Gems 4 2 3 4
  • Gem-Associated Protein 4 3 4
  • HCC-Associated Protein 1 2 3
  • Gemin-4 3 4
  • P97 3 4
  • Gem (Nuclear Organelle) Associated Protein 4 2
  • HHRF-1 3
  • NEDMCR 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. Diseases associated with GEMIN4 include Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities and Microcephaly. Among its related pathways are RNA transport and Gene Expression.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for GEMIN4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GEMIN4 Gene

Genomics for GEMIN4 Gene

GeneHancer (GH) Regulatory Elements for GEMIN4 Gene

Promoters and enhancers for GEMIN4 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
GH17J000750 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 758.6 +1.9 1864 3.9 ZNF785 ZNF24 SP1 CTCF ZBTB6 RBPJ POLR2A MIXL1 MYC ELF1 DBIL5P VPS53 GEMIN4 lnc-FAM57A-4 piR-49449 TLCD3A PRPF8 MRM3 GLOD4 TIMM22
GH17J001712 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 51.3 -961.8 -961775 7 SIN3A SP1 CTCF SREBF1 SIX5 LCORL ZBTB6 FOXA1 MLX SMARCE1 WDR81 MIR22 MIR22HG SMYD4 PRPF8 GEMIN4 RPA1 METTL16 SERPINF2 SMG6
GH17J000755 Enhancer 0.2 ENCODE 750.6 -1.5 -1519 0 GEMIN4 GLOD4 TIMM22 lnc-GLOD4-2 RF00017-2197
GH17J000754 Enhancer 0.2 ENCODE 750.6 -0.3 -318 0.1 DBIL5P GEMIN4 lnc-FAM57A-4 TLCD3A MRM3 GLOD4 TIMM22 lnc-GLOD4-2 RF00017-2197
GH17J001515 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 48.6 -763.3 -763257 4.5 PPP1R10 ZNF785 SIN3A SP1 ZBTB40 CTCF MLX POLR2A HDAC2 ATF1 INPP5K PITPNA-AS1 piR-37502 PRPF8 SMG6 GEMIN4 SMYD4 WDR81 METTL16 HNRNPA1P16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GEMIN4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GEMIN4 gene promoter:
  • AML1a
  • AP-4
  • E47
  • FOXL1
  • ISGF-3
  • NF-kappaB
  • NF-kappaB1
  • RelA
  • RP58
  • XBP-1

Genomic Locations for GEMIN4 Gene

Genomic Locations for GEMIN4 Gene
chr17:744,416-753,999
(GRCh38/hg38)
Size:
9,584 bases
Orientation:
Minus strand
chr17:647,654-657,239
(GRCh37/hg19)
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 Lys36, 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

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

Protein Domains for GEMIN4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GEMIN4 Gene

GenScript: Design optimal peptide antigens:
  • p97 (GEMI4_HUMAN)
  • Gem (Nuclear organelle) associated protein 4 (Q8WUM5_HUMAN)
genes like me logo Genes that share domains with GEMIN4: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for GEMIN4 Gene

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

Human Phenotype Ontology for GEMIN4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for GEMIN4 Gene

miRTarBase miRNAs that target GEMIN4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GEMIN4

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
nucleus 5
cytosol 5
peroxisome 1

Subcellular locations from the

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

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 import into nucleus TAS --
genes like me logo Genes that share ontologies with GEMIN4: view

No data available for SIGNOR curated interactions for GEMIN4 Gene

Drugs & Compounds for GEMIN4 Gene

No Compound Related Data Available

Transcripts for GEMIN4 Gene

mRNA/cDNA for GEMIN4 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GEMIN4

Clone 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, 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

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 33 32
  • 98.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GEMIN4 33 32
  • 85.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GEMIN4 33 32
  • 84.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gemin4 17 33 32
  • 82.04 (n)
rat
(Rattus norvegicus)
Mammalia Gemin4 32
  • 81.44 (n)
oppossum
(Monodelphis domestica)
Mammalia GEMIN4 33
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GEMIN4 33
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves GEMIN4 33 32
  • 61.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GEMIN4 33
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gemin4 32
  • 52.12 (n)
zebrafish
(Danio rerio)
Actinopterygii gemin4 33 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GEMIN4: view image

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 Variation AA Info Type
rs730882219 likely-pathogenic, pathogenic, Congenital cataract, Global developmental delay, Microcephaly, Severe dystonia, NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) [MIM:617913] 745,591(-) A/C/G coding_sequence_variant, missense_variant
rs1000006590 -- 754,176(-) T/G upstream_transcript_variant
rs1000120687 -- 743,980(-) A/T downstream_transcript_variant
rs1000183272 -- 748,765(-) A/C intron_variant
rs1000418146 -- 744,053(-) G/C/T downstream_transcript_variant

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)

Additional Variant Information 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

MalaCards: The human disease database

(3) MalaCards diseases for GEMIN4 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
  • nedmcr
microcephaly
  • microcephaly syndrome
spinal muscular atrophy
  • progressive muscular atrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GEMI4_HUMAN
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) [MIM:617913]: An autosomal recessive, severe neurodevelopmental disorder characterized by global developmental delay since infancy, microcephaly, poor or absent speech, and inability to walk or spasticity. Additional features include renal abnormalities, congenital cataracts, gastroesophageal reflux disease, seizures with onset in infancy or childhood, hyporeflexia, and non-specific white matter abnormalities on brain imaging. {ECO:0000269 PubMed:25558065}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GEMIN4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GEMIN4: view

No data available for 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 (The Journal of cell biology 2000) 2 3 4 23 56
  2. Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma. (PMID: 19047128) Horikawa Y … Wu X (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 23 43 56
  3. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 43 56
  4. Association of a common AGO1 variant with lung cancer risk: a two-stage case-control study. (PMID: 20721975) Kim JS … Park JY (Molecular carcinogenesis 2010) 3 43 56
  5. Genetic variation in MicroRNA genes and risk of oral premalignant lesions. (PMID: 19851984) Clague J … Wu X (Molecular carcinogenesis 2010) 3 43 56

Products for GEMIN4 Gene

Sources for GEMIN4 Gene