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

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	NEDMCR
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

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

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
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

Show/Hide all(21)

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
GO:0005515	Function	Protein binding	IPI	11714716, 12869526, 19750007, 21988832, 23752268, 28514442, 32296183
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	10725331
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: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	21873635
GO:0032797	Component	SMN complex	IDA	18984161
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	10725331
GO:0051170	Process	Import into nucleus	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097504	Component	Gemini of coiled bodies	IEA

MIM	HGNC	e!Ensembl
606969	15717	ENSG00000179409

Protein

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

	Reactome
			snRNP Assembly

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES	rs730882219	27878435, 25558065, 30237576

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Renal hypoplasia	Congenital hypoplasia of kidney			ClinVar

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining
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)