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.	57122
Gene name Gene Name - the full gene name approved by the HGNC.	Nucleoporin 107
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NUP107
Synonyms (NCBI Gene) Gene synonyms aliases	GAMOS7, NPHS11, NUP84, ODG6, ODG6; GAMOS7
Disease Acronyms (UniProt) Disease acronyms from UniProt database	GAMOS7, NPHS11, ODG6
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q15
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transpo

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201609471	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs730882216	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs745342141	G>A	Pathogenic	Coding sequence variant, missense variant
rs864321632	A>C	Pathogenic	Missense variant, coding sequence variant
rs864321633	G>T	Pathogenic	Missense variant, coding sequence variant
rs864321687	AAGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs864321688	G>A	Pathogenic	Splice donor variant
rs1555178358	G>A	Pathogenic	Missense variant, coding sequence variant
rs1565707103	A>G	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028013	hsa-miR-93-5p	Sequencing	20371350
MIRT1198978	hsa-miR-188-5p	CLIP-seq
MIRT1198979	hsa-miR-3162-3p	CLIP-seq
MIRT1198980	hsa-miR-3919	CLIP-seq
MIRT1198981	hsa-miR-4477a	CLIP-seq
MIRT1198982	hsa-miR-4666-5p	CLIP-seq
MIRT1198983	hsa-miR-488	CLIP-seq
MIRT1198984	hsa-miR-597	CLIP-seq
MIRT1198985	hsa-miR-653	CLIP-seq
MIRT1198982	hsa-miR-4666-5p	CLIP-seq
MIRT2057677	hsa-miR-4778-5p	CLIP-seq
MIRT1198984	hsa-miR-597	CLIP-seq

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	IDA	17363900
GO:0000777	Component	Condensed chromosome kinetochore	IEA
GO:0000973	Process	Posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11564755, 15146057, 17363900, 24407287, 26411495, 26496610, 27194810
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IDA	11564755, 11684705, 12802065, 15229283, 26411495
GO:0005829	Component	Cytosol	TAS
GO:0006110	Process	Regulation of glycolytic process	TAS
GO:0006355	Process	Regulation of transcription, DNA-templated	IBA	21873635
GO:0006406	Process	MRNA export from nucleus	IBA	21873635
GO:0006406	Process	MRNA export from nucleus	IDA	11684705
GO:0006406	Process	MRNA export from nucleus	TAS
GO:0006409	Process	TRNA export from nucleus	TAS
GO:0006606	Process	Protein import into nucleus	IBA	21873635
GO:0008585	Process	Female gonad development	IMP	26485283
GO:0016020	Component	Membrane	HDA	19946888
GO:0016032	Process	Viral process	TAS
GO:0016925	Process	Protein sumoylation	TAS
GO:0017056	Function	Structural constituent of nuclear pore	IBA	21873635
GO:0017056	Function	Structural constituent of nuclear pore	IDA	11684705
GO:0017056	Function	Structural constituent of nuclear pore	IMP	15229283
GO:0019083	Process	Viral transcription	TAS
GO:0031080	Component	Nuclear pore outer ring	IBA	21873635
GO:0031080	Component	Nuclear pore outer ring	IDA	17360435
GO:0031080	Component	Nuclear pore outer ring	NAS	15146057, 17363900
GO:0031965	Component	Nuclear membrane	IDA	12802065, 15229283
GO:0034399	Component	Nuclear periphery	IDA	15229283
GO:0043657	Component	Host cell	IEA
GO:0051292	Process	Nuclear pore complex assembly	IMP	15229283
GO:0060964	Process	Regulation of gene silencing by miRNA	TAS
GO:0072006	Process	Nephron development	IMP	30179222
GO:0075733	Process	Intracellular transport of virus	TAS
GO:1900034	Process	Regulation of cellular response to heat	TAS

MIM	HGNC	e!Ensembl
607617	29914	ENSG00000111581

Protein

UniProt ID

P57740

Protein name

Nuclear pore complex protein Nup107 (107 kDa nucleoporin) (Nucleoporin Nup107)

Protein function

Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:12552102, PubMed:15229283). May anchor NUP62 to

PDB

3CQC , 3CQG , 3I4R , 5A9Q , 7PEQ , 7R5J , 7R5K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04121	Nup84_Nup100	209 → 908	Nuclear pore protein 84 / 107	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in fetal and adult tissues. {ECO:0000269|PubMed:26411495}.

Sequence

MDRSGFGEISSPVIREAEVTRTARKQSAQKRVLLQASQDENFGNTTPRNQVIPRTPSSFR
QPFTPTSRSLLRQPDISCILGTGGKSPRLTQSSGFFGNLSMVTNLDDSNWAAAFSSQRSG
LFTNTEPHSITEDVTISAVMLREDDPGEAASMSMFSDFLQSFLKHSSSTVFDLVEEYENI
CGSQVNILSKIVSRATPGLQKFSKTASMLWLLQQEMVTWRLLASLYRDRIQSALEEESVF
AVTAVNASEKTVVEALFQRDSLVRQSQLVVDWLESIAKDEIGEFSDNIEFYAKSVYWENT
LHTLKQRQLTSYVGSVRPLVTELDPDAPIRQKMPLDDLDREDEVRLLKYLFTLIRAGMTE
EAQRLCKRCGQAWRAATLEGWKLYHDPNVNGGTELEPVEGNPYRRIWKISCWRMAEDELF
NRYERAIYAALSGNLKQLLPVCDTWEDTVWAYFRVMVDSLVEQEIQTSVATLDETEELPR
EYLGANWTLEKVFEELQATDKKRVLEENQEHYHIVQKFLILGDIDGLMDEFSKWLSKSRN
NLPGHLLRFMTHLILFFRTLGLQTKEEVSIEVLKTYIQLLIREKHTNLIAFYTCHLPQDL
AVAQYALFLESVTEFEQRHHCLELAKEADLDVATITKTVVENIRKKDNGEFSHHDLAPAL
DTGTTEEDRLKIDVIDWLVFDPAQRAEALKQGNAIMRKFLASKKHEAAKEVFVKIPQDSI
AEIYNQCEEQGMESPLPAEDDNAIREHLCIRAYLEAHETFNEWFKHMNSVPQKPALIPQP
TFTEKVAHEHKEKKYEMDFGIWKGHLDALTADVKEKMYNVLLFVDGGWMVDVREDAKEDH
ERTHQMVLLRKLCLPMLCFLLHTILHSTGQYQECLQLADMVSSERHKLYLVFSKEELRKL
LQKLRESSLMLLDQGLDPLGYEIQL

Sequence length

925

Interactions

View interactions

	KEGG		Reactome
	Nucleocytoplasmic transport Amyotrophic lateral sclerosis		ISG15 antiviral mechanism Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript Rev-mediated nuclear export of HIV RNA Transport of Ribonucleoproteins into the Host Nucleus NS1 Mediated Effects on Host Pathways Viral Messenger RNA Synthesis NEP/NS2 Interacts with the Cellular Export Machinery Regulation of Glucokinase by Glucokinase Regulatory Protein Vpr-mediated nuclear import of PICs snRNP Assembly Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Nuclear Pore Complex (NPC) Disassembly Regulation of HSF1-mediated heat shock response SUMOylation of SUMOylation proteins SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins Transcriptional regulation by small RNAs Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) RHO GTPases Activate Formins tRNA processing in the nucleus Mitotic Prometaphase HCMV Early Events HCMV Late Events Postmitotic nuclear pore complex (NPC) reformation EML4 and NUDC in mitotic spindle formation

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Galloway-mowat syndrome	Galloway Mowat syndrome, Galloway-Mowat syndrome	rs727502863, rs727502864, rs730882216, rs797044992, rs767086146, rs754099015, rs797044993, rs797044994, rs797044995, rs863223396, rs869320712, rs776760122, rs1555976610, rs1557211306, rs1557211209 View all (22 more)	28280135
Glomerulonephritis	Glomerulonephritis, Minimal Change	rs778043831
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034 View all (1161 more)
Kidney disease	Kidney Diseases, Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Nephrotic syndrome	Nephrotic Syndrome, NEPHROTIC SYNDROME, TYPE 11	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910 View all (152 more)	26411495, 30179222
Ovarian dysgenesis	OVARIAN DYSGENESIS 6	rs104894765, rs121909658, rs121909660, rs121909661, rs121909662, rs386833512, rs2093045125, rs386833510, rs386833511, rs386833513, rs386833514, rs386833515, rs864309645, rs864309646, rs1555178358, rs1567753148, rs1597722169 View all (2 more)	26485283
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578 View all (1 more)

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Galloway-Mowat Syndrome	Galloway-Mowat syndrome 7, Galloway-Mowat syndrome	GenCC
Gonadal Dysgenesis	46 XX gonadal dysgenesis	GenCC
Nephrotic Syndrome	familial idiopathic steroid-resistant nephrotic syndrome	GenCC

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Stimulate	21094583
Arrhythmias Cardiac	Associate	25602437
Astrocytoma	Associate	37162029
Carcinoma Hepatocellular	Associate	36952458
Carcinoma Pancreatic Ductal	Associate	29671412
Colorectal Neoplasms	Associate	32815531
Death Sudden	Associate	25602437
Glomerulosclerosis Focal Segmental	Associate	37565816
Liposarcoma	Associate	22034177
Lung Neoplasms	Associate	21094583
Neoplasms	Associate	36952458
Nephrotic Syndrome	Associate	35455939
Niemann Pick Disease Type C	Associate	25602437
Ovarian Neoplasms	Associate	28562428

NUP107 (nucleoporin 107)