Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79760
Gene name Gene Name - the full gene name approved by the HGNC.
Gem nuclear organelle associated protein 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GEMIN7
Synonyms (NCBI Gene) Gene synonyms aliases
SIP3
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three trans
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001630 hsa-let-7b-5p pSILAC 18668040
MIRT001630 hsa-let-7b-5p Proteomics;Other 18668040
MIRT1016227 hsa-miR-214 CLIP-seq
MIRT1016228 hsa-miR-296-3p CLIP-seq
MIRT1016229 hsa-miR-3137 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000387 Process Spliceosomal snRNP assembly IBA 21873635
GO:0000387 Process Spliceosomal snRNP assembly IDA 18984161
GO:0000387 Process Spliceosomal snRNP assembly TAS 12065586
GO:0000398 Process MRNA splicing, via spliceosome TAS 12065586
GO:0005515 Function Protein binding IPI 12065586, 15848170, 15939020, 16189514, 25416956, 26496610, 28514442, 31515488, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607419 20045 ENSG00000142252
Protein
UniProt ID Q9H840
Protein name Gem-associated protein 7 (Gemin-7) (SIP3)
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
PDB 1Y96 , 7BBL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12901 SUZ-C 2 27 SUZ-C motif Domain
PF11095 Gemin7 54 129 Gem-associated protein 7 (Gemin7) Family
Sequence
Sequence length 131
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    snRNP Assembly
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
29777097, 30617256
Associations from Text Mining
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 30786668
Urinary Bladder Neoplasms Associate 33685397