NUP107 (nucleoporin 107)

Gene

• Entrez ID: 57122
• Gene name: Nucleoporin 107
• Gene symbol: NUP107
• Synonyms (NCBI Gene): GAMOS7, NPHS11, NUP84, ODG6, ODG6; GAMOS7
• Chromosome: 12
• Chromosome location: 12q15
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	17363900
GO:0000776	Component	Kinetochore	IEA
GO:0000973	Process	Post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery	IBA
GO:0005515	Function	Protein binding	IPI	11564755, 15146057, 17363900, 24407287, 26411495, 26496610, 27194810, 30179222, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IDA	11564755, 11684705, 12802065, 15229283, 26411495
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006406	Process	MRNA export from nucleus	IBA
GO:0006406	Process	MRNA export from nucleus	IDA	11684705
GO:0006606	Process	Protein import into nucleus	IBA
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0008585	Process	Female gonad development	IMP	26485283
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0017056	Function	Structural constituent of nuclear pore	IBA
GO:0017056	Function	Structural constituent of nuclear pore	IDA	11684705
GO:0017056	Function	Structural constituent of nuclear pore	IEA
GO:0017056	Function	Structural constituent of nuclear pore	IMP	15229283
GO:0031080	Component	Nuclear pore outer ring	IBA
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:0031965	Component	Nuclear membrane	IEA
GO:0034399	Component	Nuclear periphery	IDA	15229283
GO:0051028	Process	MRNA transport	IEA
GO:0051292	Process	Nuclear pore complex assembly	IMP	15229283
GO:0072006	Process	Nephron development	IMP	30179222

Other IDs

• MIM: 607617
• HGNC: 29914
• e!Ensembl: 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

Pathways

KEGG:

Nucleocytoplasmic transport
Amyotrophic lateral sclerosis

Reactome:

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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Early onset focal segmental glomerulosclerosis	Likely pathogenic; Pathogenic	rs730882216	RCV000162125	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Galloway-Mowat syndrome 7	Likely pathogenic; Pathogenic	rs730882216, rs1165860389, rs745342141	RCV000721164 RCV003993531 RCV000760138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs730882216	RCV000162125	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Light complexion	Likely pathogenic; Pathogenic	rs730882216	RCV000162125	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome, type 11	Likely pathogenic; Pathogenic	rs2136056550, rs774346160, rs864321632, rs864321687, rs864321688, rs864321633, rs1565707103	RCV002249114 RCV002250905 RCV000203507 RCV000203517 RCV000203541 RCV000203505 RCV000721163	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NUP107-related disorder	Likely pathogenic; Pathogenic	rs768060090, rs864321687, rs1391838663, rs2498970944	RCV003419091 RCV004752794 RCV003405770 RCV003391594	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian dysgenesis 6	Likely pathogenic; Pathogenic	rs747135247, rs1555178358	RCV001839423 RCV000677178	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GALLOWAY MOWAT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLOWAY-MOWAT SYNDROME	—	Orphanet Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46,XX gonadal dysgenesis	46, XX gonadal dysgenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21094583		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28029704		★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	25602437	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	37162029	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36952458	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	29671412	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28562428		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31487736		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32815531	Associate	★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse mesangial sclerosis (disorder)	Mesangial sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	27190346		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Galloway Mowat syndrome	Galloway-Mowat Syndrome	ORPHANET_DG	28280135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Galloway Mowat syndrome	Galloway-Mowat Syndrome	BEFREE	30427554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Galloway-Mowat syndrome	Galloway-Mowat Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glomerulonephritis, Minimal Change	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	37565816	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	GENOMICS_ENGLAND_DG	26485283		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	BEFREE	26485283		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	ORPHANET_DG	26485283		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	22034177	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	22034177		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21094583	Associate	★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28562428		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31487736		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30894603		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	35455939	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	26411495		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 11	Nephrotic Syndrome	UNIPROT_DG	26411495, 30179222		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 11	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	26411495, 30179222		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 11	Nephrotic Syndrome	CLINVAR_DG	30179222		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 11	Nephrotic Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis of vertebrae	Osteoporosis of vertebrae	HPO_DG			★☆☆☆☆ Found in Text Mining only
OVARIAN DYSGENESIS 6	Ovarian Dysgenesis	UNIPROT_DG	26485283		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Failure, Premature	Ovarian Failure	BEFREE	26485283		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28562428		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28562428	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	26485283, 29363275		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	29363275		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pure Gonadal Dysgenesis, 46, XX	46,XX gonadal dysgenesis	ORPHANET_DG	26485283		★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	26411495, 27190346, 30427554		★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subfertility, Female	Subfertility	BEFREE	29363275		★☆☆☆☆ Found in Text Mining only