Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79760
Gene name	Gem nuclear organelle associated protein 7
Gene symbol	GEMIN7
Synonyms (NCBI Gene)	SIP3
Chromosome	19
Chromosome location	19q13.32
Summary	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

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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
MIRT1016230	hsa-miR-3619-5p	CLIP-seq
MIRT1016231	hsa-miR-3686	CLIP-seq
MIRT1016232	hsa-miR-4652-3p	CLIP-seq
MIRT1016233	hsa-miR-4690-5p	CLIP-seq
MIRT1016234	hsa-miR-759	CLIP-seq
MIRT1016235	hsa-miR-761	CLIP-seq
MIRT1016236	hsa-miR-873	CLIP-seq
MIRT1016237	hsa-miR-885-3p	CLIP-seq
MIRT1016238	hsa-let-7a	CLIP-seq
MIRT1016239	hsa-let-7b	CLIP-seq
MIRT1016240	hsa-let-7c	CLIP-seq
MIRT1016241	hsa-let-7d	CLIP-seq
MIRT1016242	hsa-let-7e	CLIP-seq
MIRT1016243	hsa-let-7f	CLIP-seq
MIRT1016244	hsa-let-7g	CLIP-seq
MIRT1016245	hsa-let-7i	CLIP-seq
MIRT1016246	hsa-miR-1179	CLIP-seq
MIRT1016247	hsa-miR-1294	CLIP-seq
MIRT1016248	hsa-miR-150	CLIP-seq
MIRT1016249	hsa-miR-202	CLIP-seq
MIRT1016250	hsa-miR-216a	CLIP-seq
MIRT1016251	hsa-miR-216b	CLIP-seq
MIRT1016252	hsa-miR-2278	CLIP-seq
MIRT1016228	hsa-miR-296-3p	CLIP-seq
MIRT1016229	hsa-miR-3137	CLIP-seq
MIRT1016253	hsa-miR-3646	CLIP-seq
MIRT1016254	hsa-miR-3667-3p	CLIP-seq
MIRT1016255	hsa-miR-3927	CLIP-seq
MIRT1016256	hsa-miR-4316	CLIP-seq
MIRT1016257	hsa-miR-4451	CLIP-seq
MIRT1016258	hsa-miR-4458	CLIP-seq
MIRT1016259	hsa-miR-4500	CLIP-seq
MIRT1016260	hsa-miR-4677-3p	CLIP-seq
MIRT1016261	hsa-miR-4679	CLIP-seq
MIRT1016262	hsa-miR-4713-5p	CLIP-seq
MIRT1016263	hsa-miR-4732-5p	CLIP-seq
MIRT1016264	hsa-miR-4762-5p	CLIP-seq
MIRT1016265	hsa-miR-532-3p	CLIP-seq
MIRT1016234	hsa-miR-759	CLIP-seq
MIRT1016266	hsa-miR-98	CLIP-seq
MIRT2000866	hsa-miR-338-5p	CLIP-seq
MIRT2000867	hsa-miR-3609	CLIP-seq
MIRT2000868	hsa-miR-4459	CLIP-seq
MIRT2000869	hsa-miR-515-3p	CLIP-seq
MIRT2000870	hsa-miR-519e	CLIP-seq
MIRT2000871	hsa-miR-548ah	CLIP-seq
MIRT2000872	hsa-miR-548t	CLIP-seq
MIRT2000873	hsa-miR-661	CLIP-seq
MIRT2000868	hsa-miR-4459	CLIP-seq
MIRT2450176	hsa-miR-1245	CLIP-seq
MIRT2450177	hsa-miR-185	CLIP-seq
MIRT2450178	hsa-miR-2276	CLIP-seq
MIRT2450179	hsa-miR-3135b	CLIP-seq
MIRT2450180	hsa-miR-3160-5p	CLIP-seq
MIRT2450181	hsa-miR-3188	CLIP-seq
MIRT2450182	hsa-miR-3606	CLIP-seq
MIRT2450183	hsa-miR-3652	CLIP-seq
MIRT2450184	hsa-miR-3923	CLIP-seq
MIRT2450185	hsa-miR-4266	CLIP-seq
MIRT2450186	hsa-miR-4306	CLIP-seq
MIRT2450187	hsa-miR-4430	CLIP-seq
MIRT2450188	hsa-miR-4644	CLIP-seq
MIRT2450189	hsa-miR-4695-5p	CLIP-seq
MIRT2450190	hsa-miR-4708-3p	CLIP-seq
MIRT2450191	hsa-miR-4738-3p	CLIP-seq
MIRT2450192	hsa-miR-4766-5p	CLIP-seq
MIRT2450193	hsa-miR-4779	CLIP-seq
MIRT2450194	hsa-miR-488	CLIP-seq
MIRT2450195	hsa-miR-921	CLIP-seq
MIRT2538309	hsa-miR-1266	CLIP-seq
MIRT2538310	hsa-miR-1289	CLIP-seq
MIRT2538311	hsa-miR-198	CLIP-seq
MIRT2450180	hsa-miR-3160-5p	CLIP-seq
MIRT2538312	hsa-miR-320a	CLIP-seq
MIRT2538313	hsa-miR-320b	CLIP-seq
MIRT2538314	hsa-miR-320c	CLIP-seq
MIRT2538315	hsa-miR-320d	CLIP-seq
MIRT2538316	hsa-miR-3664-3p	CLIP-seq
MIRT2538317	hsa-miR-4429	CLIP-seq
MIRT2538318	hsa-miR-4433	CLIP-seq
MIRT2000868	hsa-miR-4459	CLIP-seq
MIRT2538319	hsa-miR-4518	CLIP-seq
MIRT2538320	hsa-miR-4720-3p	CLIP-seq
MIRT2450191	hsa-miR-4738-3p	CLIP-seq
MIRT2538321	hsa-miR-4768-3p	CLIP-seq
MIRT2538322	hsa-miR-4804-3p	CLIP-seq
MIRT2538323	hsa-miR-499a-5p	CLIP-seq
MIRT2538324	hsa-miR-665	CLIP-seq
MIRT2538309	hsa-miR-1266	CLIP-seq
MIRT2538310	hsa-miR-1289	CLIP-seq
MIRT2538311	hsa-miR-198	CLIP-seq
MIRT2538316	hsa-miR-3664-3p	CLIP-seq
MIRT2538318	hsa-miR-4433	CLIP-seq
MIRT2000868	hsa-miR-4459	CLIP-seq
MIRT2538319	hsa-miR-4518	CLIP-seq
MIRT2538321	hsa-miR-4768-3p	CLIP-seq
MIRT2538323	hsa-miR-499a-5p	CLIP-seq
MIRT2538324	hsa-miR-665	CLIP-seq

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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	TAS	12065586
GO:0000398	Process	MRNA splicing, via spliceosome	TAS	12065586
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12065586, 15848170, 15939020, 16189514, 17178713, 25416956, 26496610, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	12065586
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	12065586
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	18984161
GO:0005829	Component	Cytosol	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016604	Component	Nuclear body	IDA	12065586
GO:0032797	Component	SMN complex	IDA	17178713, 18984161
GO:0032797	Component	SMN complex	IPI	17178713
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0034719	Component	SMN-Sm protein complex	IEA
GO:0097504	Component	Gemini of Cajal bodies	IDA	20513430
GO:0097504	Component	Gemini of Cajal bodies	IEA
GO:0120114	Component	Sm-like protein family complex	IBA

MIM	HGNC	e!Ensembl
607419	20045	ENSG00000142252

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

MQTPVNIPVPVLRLPRGPDGFSRGFAPDGRRAPLRPEVPEIQECPIAQESLESQEQRARA
ALRERYLRSLLAMVGHQVSFTLHEGVRVAAHFGATDLDVANFYVSQLQTPIGVQAEALLR
CSDIISYTFKP

Sequence length

131

Interactions

View interactions

	Reactome
			snRNP Assembly

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	29777097, 30617256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30786668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	14633674		★★★★★ ★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	14633674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33685397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	14633674		★★★★★ ★☆☆☆☆ Found in Text Mining only

GEMIN7 (gem nuclear organelle associated protein 7)