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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	50628
Gene name	Gem nuclear organelle associated protein 4
Gene symbol	GEMIN4
Synonyms (NCBI Gene)	HC56HCAP1HHRF-1NEDMCRp97
Chromosome	17
Chromosome location	17p13.3
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs730882219	A>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant

167

Show/Hide all (167)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005881	hsa-miR-342-3p	Luciferase reporter assayNorthern blotqRT-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
MIRT041307	hsa-miR-193b-3p	CLASH	23622248
MIRT723574	hsa-miR-888-5p	HITS-CLIP	19536157
MIRT723573	hsa-miR-6854-5p	HITS-CLIP	19536157
MIRT723572	hsa-miR-6715a-3p	HITS-CLIP	19536157
MIRT723571	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT723570	hsa-miR-371a-5p	HITS-CLIP	19536157
MIRT005881	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT723569	hsa-miR-6715b-3p	HITS-CLIP	19536157
MIRT685076	hsa-miR-512-5p	HITS-CLIP	23313552
MIRT685075	hsa-miR-510-5p	HITS-CLIP	23313552
MIRT685074	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT685073	hsa-miR-3929	HITS-CLIP	23313552
MIRT685072	hsa-miR-4419b	HITS-CLIP	23313552
MIRT685071	hsa-miR-4478	HITS-CLIP	23313552
MIRT685070	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT685069	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT685068	hsa-miR-5690	HITS-CLIP	23313552
MIRT685067	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT685066	hsa-miR-4459	HITS-CLIP	23313552
MIRT685065	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT685064	hsa-miR-3664-3p	HITS-CLIP	23313552
MIRT685063	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT685062	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT685061	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT685060	hsa-miR-7854-3p	HITS-CLIP	23313552
MIRT685059	hsa-miR-6134	HITS-CLIP	23313552
MIRT685058	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT685057	hsa-miR-6894-5p	HITS-CLIP	23313552
MIRT685056	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT685055	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT685054	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT685053	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT685052	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT685051	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT685050	hsa-miR-4433a-5p	HITS-CLIP	23313552
MIRT685049	hsa-miR-1233-5p	HITS-CLIP	23313552
MIRT685048	hsa-miR-6778-5p	HITS-CLIP	23313552
MIRT685047	hsa-miR-7977	HITS-CLIP	23313552
MIRT685046	hsa-miR-937-5p	HITS-CLIP	23313552
MIRT685045	hsa-miR-627-5p	HITS-CLIP	23313552
MIRT685044	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT685043	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT685042	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT685041	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT685040	hsa-miR-3689c	HITS-CLIP	23313552
MIRT685039	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT685038	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT685037	hsa-miR-4433b-5p	HITS-CLIP	23313552
MIRT685036	hsa-miR-8081	HITS-CLIP	23313552
MIRT685035	hsa-miR-4646-3p	HITS-CLIP	23313552
MIRT685034	hsa-miR-665	HITS-CLIP	23313552
MIRT440578	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT440578	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT723574	hsa-miR-888-5p	HITS-CLIP	19536157
MIRT723573	hsa-miR-6854-5p	HITS-CLIP	19536157
MIRT723572	hsa-miR-6715a-3p	HITS-CLIP	19536157
MIRT723571	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT723570	hsa-miR-371a-5p	HITS-CLIP	19536157
MIRT005881	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT723569	hsa-miR-6715b-3p	HITS-CLIP	19536157
MIRT685076	hsa-miR-512-5p	HITS-CLIP	23313552
MIRT685075	hsa-miR-510-5p	HITS-CLIP	23313552
MIRT685074	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT685073	hsa-miR-3929	HITS-CLIP	23313552
MIRT685072	hsa-miR-4419b	HITS-CLIP	23313552
MIRT685071	hsa-miR-4478	HITS-CLIP	23313552
MIRT685070	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT685069	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT685068	hsa-miR-5690	HITS-CLIP	23313552
MIRT685067	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT685066	hsa-miR-4459	HITS-CLIP	23313552
MIRT685065	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT685064	hsa-miR-3664-3p	HITS-CLIP	23313552
MIRT685063	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT685062	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT685061	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT685060	hsa-miR-7854-3p	HITS-CLIP	23313552
MIRT685059	hsa-miR-6134	HITS-CLIP	23313552
MIRT685058	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT685057	hsa-miR-6894-5p	HITS-CLIP	23313552
MIRT685056	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT685055	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT685054	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT685053	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT685052	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT685051	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT685050	hsa-miR-4433a-5p	HITS-CLIP	23313552
MIRT685049	hsa-miR-1233-5p	HITS-CLIP	23313552
MIRT685048	hsa-miR-6778-5p	HITS-CLIP	23313552
MIRT685047	hsa-miR-7977	HITS-CLIP	23313552
MIRT685046	hsa-miR-937-5p	HITS-CLIP	23313552
MIRT685045	hsa-miR-627-5p	HITS-CLIP	23313552
MIRT685044	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT685043	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT685042	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT685041	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT685040	hsa-miR-3689c	HITS-CLIP	23313552
MIRT685039	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT685038	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT685037	hsa-miR-4433b-5p	HITS-CLIP	23313552
MIRT685036	hsa-miR-8081	HITS-CLIP	23313552
MIRT685035	hsa-miR-4646-3p	HITS-CLIP	23313552
MIRT685034	hsa-miR-665	HITS-CLIP	23313552
MIRT1016139	hsa-miR-1265	CLIP-seq
MIRT1016140	hsa-miR-127-5p	CLIP-seq
MIRT1016141	hsa-miR-145	CLIP-seq
MIRT1016142	hsa-miR-2392	CLIP-seq
MIRT1016143	hsa-miR-3148	CLIP-seq
MIRT1016144	hsa-miR-3688-3p	CLIP-seq
MIRT1016145	hsa-miR-3942-3p	CLIP-seq
MIRT1016146	hsa-miR-423-3p	CLIP-seq
MIRT1016147	hsa-miR-4256	CLIP-seq
MIRT1016148	hsa-miR-4326	CLIP-seq
MIRT1016149	hsa-miR-4645-5p	CLIP-seq
MIRT1016150	hsa-miR-4659a-5p	CLIP-seq
MIRT1016151	hsa-miR-4659b-5p	CLIP-seq
MIRT1016152	hsa-miR-4673	CLIP-seq
MIRT1016153	hsa-miR-4716-5p	CLIP-seq
MIRT1016154	hsa-miR-4722-3p	CLIP-seq
MIRT1016155	hsa-miR-4769-3p	CLIP-seq
MIRT1016156	hsa-miR-4776-3p	CLIP-seq
MIRT1016157	hsa-miR-4786-3p	CLIP-seq
MIRT1016158	hsa-miR-653	CLIP-seq
MIRT2000810	hsa-miR-1184	CLIP-seq
MIRT2000811	hsa-miR-1205	CLIP-seq
MIRT2000812	hsa-miR-3158-5p	CLIP-seq
MIRT2000813	hsa-miR-3166	CLIP-seq
MIRT2000814	hsa-miR-3182	CLIP-seq
MIRT1016146	hsa-miR-423-3p	CLIP-seq
MIRT1016147	hsa-miR-4256	CLIP-seq
MIRT2000815	hsa-miR-4258	CLIP-seq
MIRT1016149	hsa-miR-4645-5p	CLIP-seq
MIRT1016152	hsa-miR-4673	CLIP-seq
MIRT1016153	hsa-miR-4716-5p	CLIP-seq
MIRT2000816	hsa-miR-4771	CLIP-seq
MIRT2000817	hsa-miR-544	CLIP-seq
MIRT1016140	hsa-miR-127-5p	CLIP-seq
MIRT2234281	hsa-miR-137	CLIP-seq
MIRT2234282	hsa-miR-2113	CLIP-seq
MIRT2234283	hsa-miR-23a	CLIP-seq
MIRT2234284	hsa-miR-23b	CLIP-seq
MIRT2234285	hsa-miR-23c	CLIP-seq
MIRT2234286	hsa-miR-3138	CLIP-seq
MIRT2234287	hsa-miR-3607-3p	CLIP-seq
MIRT1016146	hsa-miR-423-3p	CLIP-seq
MIRT1016147	hsa-miR-4256	CLIP-seq
MIRT2234288	hsa-miR-4520a-3p	CLIP-seq
MIRT1016149	hsa-miR-4645-5p	CLIP-seq
MIRT1016150	hsa-miR-4659a-5p	CLIP-seq
MIRT1016151	hsa-miR-4659b-5p	CLIP-seq
MIRT1016152	hsa-miR-4673	CLIP-seq
MIRT1016153	hsa-miR-4716-5p	CLIP-seq
MIRT1016154	hsa-miR-4722-3p	CLIP-seq
MIRT2234289	hsa-miR-4752	CLIP-seq
MIRT1016155	hsa-miR-4769-3p	CLIP-seq
MIRT1016156	hsa-miR-4776-3p	CLIP-seq
MIRT1016157	hsa-miR-4786-3p	CLIP-seq
MIRT2234290	hsa-miR-4800-5p	CLIP-seq
MIRT1016158	hsa-miR-653	CLIP-seq
MIRT1016146	hsa-miR-423-3p	CLIP-seq
MIRT1016149	hsa-miR-4645-5p	CLIP-seq
MIRT1016152	hsa-miR-4673	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	IEA
GO:0005515	Function	Protein binding	IPI	11714716, 12869526, 17178713, 19750007, 21988832, 23752268, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	10725331
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	TAS	10725331
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	10725331
GO:0005829	Component	Cytosol	IDA	18984161, 20513430
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006364	Process	RRNA processing	TAS	10725331
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IDA	10725331
GO:0016020	Component	Membrane	HDA	19946888
GO:0016604	Component	Nuclear body	IDA
GO:0030532	Component	Small nuclear ribonucleoprotein complex	TAS	10725331
GO:0032797	Component	SMN complex	IBA
GO:0032797	Component	SMN complex	IDA	17178713, 18984161
GO:0032797	Component	SMN complex	IEA
GO:0032797	Component	SMN complex	IPI	17178713
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	10725331
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097504	Component	Gemini of Cajal bodies	IEA

MIM	HGNC	e!Ensembl
606969	15717	ENSG00000179409

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

	Reactome
			snRNP Assembly

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental cataract	Likely pathogenic; Pathogenic	rs730882219	RCV000162129
Global developmental delay	Likely pathogenic; Pathogenic	rs730882219	RCV000162129
Microcephaly	Likely pathogenic; Pathogenic	rs730882219	RCV000162129
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	Likely pathogenic; Pathogenic	rs730882219, rs878940028	RCV000590998 RCV002481174
Severe dystonia	Likely pathogenic; Pathogenic	rs730882219	RCV000162129

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Likely benign	rs184312176	RCV005935237
GEMIN4-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs1062923, rs35696687, rs4968104, rs140155001, rs778610719, rs1194407996, rs2544549590, rs180894698, rs199826862, rs375616543, rs185519369, rs373257688, rs2544536911, rs1045481, rs200228227 View all (17 more)	RCV003980677 RCV003980678 RCV003980745 RCV003913391 RCV004750889 RCV003414096 RCV003414354 RCV003929078 RCV003946555 RCV003901046 RCV003906760 RCV003923945 RCV003924168 RCV003964484 RCV003951967 RCV003959634 RCV003959692 RCV003959736 RCV003931726 RCV003944747 RCV003957243 RCV003976704 RCV003964263 RCV003925931 RCV003903192 RCV003928483 RCV003910506 RCV003930631 RCV003940595 RCV003940756 RCV003933136 RCV003938557
Hepatocellular carcinoma	Likely benign	rs184312176	RCV005935238
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs184312176	RCV005935240
Malignant tumor of esophagus	Likely benign	rs184312176	RCV005935239
Sarcoma	Likely benign	rs35172207	RCV005904672

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Epilepsy	Associate	35052432
Esophageal Neoplasms	Inhibit	19138993
Kidney Diseases	Associate	35052432
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	39202414
Lung Neoplasms	Associate	27669275
Microcephaly	Associate	35052432
Muscular Atrophy Spinal	Associate	16301532, 18675250
Neoplasms	Associate	27107574, 35384865
Neoplastic Syndromes Hereditary	Associate	35052432
Nervous System Diseases	Associate	35052432
Ovarian Neoplasms	Associate	21118967
Pneumonia	Associate	26991123
Prostatic Neoplasms	Associate	22506892, 32343676, 34445492, 36443337
Quadriplegia	Associate	35052432
Urinary Bladder Neoplasms	Associate	38401326

GEMIN4 (gem nuclear organelle associated protein 4)