GEMIN4 (gem nuclear organelle associated protein 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50628
Gene name Gene Name - the full gene name approved by the HGNC.
Gem nuclear organelle associated protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GEMIN4
Synonyms (NCBI Gene) Gene synonyms aliases
HC56, HCAP1, HHRF-1, NEDMCR, p97
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
Summary Summary of gene provided in NCBI Entrez 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 requi
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs730882219 A>C,G Pathogenic, likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(167)
miRTarBase ID miRNA Experiments Reference
MIRT005881 hsa-miR-342-3p Luciferase reporter assay, Northern blot, qRT-PCR 21172025
MIRT032030 hsa-miR-16-5p Proteomics 18668040
MIRT049997 hsa-miR-28-5p CLASH 23622248
MIRT043366 hsa-miR-331-3p CLASH 23622248
MIRT041966 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(30)
GO ID Ontology Definition Evidence Reference
GO:0000387 Process Spliceosomal snRNP assembly EXP 12067652
GO:0000387 Process Spliceosomal snRNP assembly IBA
GO:0000387 Process Spliceosomal snRNP assembly IDA 18984161
GO:0000387 Process Spliceosomal snRNP assembly IEA
GO:0005515 Function Protein binding IPI 11714716, 12869526, 17178713, 19750007, 21988832, 23752268, 28514442, 32296183, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606969 15717 ENSG00000179409
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P57678
Protein name Gem-associated protein 4 (Gemin-4) (Component of gems 4) (p97)
Protein function The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set
Family and domains
Sequence 
MDLGPLNICEEMTILHGGFLLAEQLFHPKALAELTKSDWERVGRPIVEALREISSAAAHS
QPFAWKKKALIIIWAKVLQPHPVTPSDTETRWQEDLFFSVGNMIPTINHTILFELLKSLE
ASGLFIQLLMALPTTICHAELERFLEHVTVDTSAEDVAFFLDVWWEVMKHKGHPQDPLLS
QFSAMAHKYLPALDEFPHPPKRLRSDPDACPTMPLLAMLLRGLTQIQSRILGPGRKCCAL
ANLADMLTVFALTEDDPQEVSATVYLDKLATVISVWNSDTQNPYHQQALAEKVKEAERDV
SLTSLAKLPSETIFVGCEFLHHLLREWGEELQAVLRSSQGTSYDSYRLCDSLTSFSQNAT
LYLNRTSLSKEDRQVVSELAECVRDFLRKTSTVLKNRALEDITASIAMAVIQQKMDRHME
VCYIFASEKKWAFSDEWVACLGSNRALFRQPDLVLRLLETVIDVSTADRAIPESQIRQVI
HLILECYADLSLPGKNKVLAGILRSWGRKGLSEKLLAYVEGFQEDLNTTFNQLTQSASEQ
GLAKAVASVARLVIVHPEVTVKKMCSLAVVNLGTHKFLAQILTAFPALRFVEEQGPNSSA
TFMVSCLKETVWMKFSTPKEEKQFLELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFL
RLDVEEVDLSLRIFIQTLEANACREEYWLQTCSPFPLLFSLCQLLDRFSKYWQLPKEKRC
LSLDRKDLAIHILELLCEIVSANAETFSPDVWIKSLSWLHRKLEQLDWTVGLRLKSFFEG
HFKCEVPATLFEICKLSEDEWTSQAHPGYGAGTGLLAWMECCCVSSGISERMLSLLVVDV
GNPEEVRLFSKGFLVALVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQFVPLL
NLKPFAQELQLSVLFLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAA
GPWVQGPEQDLTQEALFVYTQVFCHALHIMAMLHPEVCEPLYVLALETLTCYETLSKTNP
SVSSLLQRAHEQRFLKSIAEGIGPEERRQTLLQKMSSF
Sequence length 1058
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    snRNP Assembly
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities rs730882219 N/A
Show/Hide Text Mining Associations (25)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Inhibit 19138993
Adenocarcinoma of Lung Associate 27669275
Amyotrophic Lateral Sclerosis Associate 30786668
Breast Neoplasms Associate 22639842, 37507701
Carcinoma Hepatocellular Associate 24676133
Carcinoma Renal Cell Inhibit 19047128
Carcinoma Renal Cell Associate 19047128, 20732906
Cataract Associate 35052432
Colorectal Neoplasms Associate 27107574, 35384865
Death Associate 20732906