NUP205 - nucleoporin 205 Gene

Also Known as NPHS13; C7orf14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23165

About NUP205

Cytogenetic location: 7q33 Genomic coordinates (GRCh38): 7:135,557,917-135,648,753 (from NCBI)

This gene has 10 transcripts (splice variants), 223 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 10.1), lymph node (RPKM 10.1) and 25 other tissues.

Summary

This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]

NUP205 Products (2)

mRNA	Protein	Name
NM_001329434.2	NP_001316363.2	nuclear pore complex protein Nup205 isoform 2
NM_015135.3	NP_055950.2	nuclear pore complex protein Nup205 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9348540	GOA
enables structural constituent of nuclear pore	IMP IMP: Inferred from mutant phenotype	15229283	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in nuclear pore complex assembly	IMP IMP: Inferred from mutant phenotype	15229283	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nuclear envelope	IDA IDA: Inferred from direct assay	24315095	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	15229283	GOA
located in nuclear periphery	IDA IDA: Inferred from direct assay	15229283	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	12802065	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NUP205 Protein Structure

Nup192

0
400
800
1200
1600
2012 a.a.

Protein Preferred Names	Protein Names
nuclear pore complex protein Nup205	205 kDa nucleoporin

NUP205 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	NUP205	Q92621	E4	Human adenovirus C	Q6VGT1	Anti Tag CoIP	25210169
Cross	NUP205	Q92621	rev	Human immunodeficiency virus	P04618	Anti Tag CoIP	25210169

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Nephrotic Syndrome, Type 13	NPHS13 Nephrotic Syndrome Type 13 Nephrotic Syndrome 13
Genetic Steroid-Resistant Nephrotic Syndrome	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Genetic Srns Hereditary Steroid-Resistant Nephrotic Syndrome Familial Idiopathic Nephrotic Syndrome Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive Srn1
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Influenza	Flu Influenza With Non-Respiratory Manifestation Influenza With Other Manifestations Influenza, Human Influenza, Susceptibility To Seasonal Influenza, Virus Identified
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Schimke Immunoosseous Dysplasia	Schimke Immuno-Osseous Dysplasia SIOD Immunoosseous Dysplasia, Schimke Type Schimke Syndrome Immunoosseous Dysplasia Schimke Type Spondyloepiphyseal Dysplasia - Nephrotic Syndrome Spondyloepiphyseal Dysplasia Nephrotic Syndrome Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
Paget'S Disease Of Bone	Osteitis Deformans Paget Disease Of Bone Osseous Paget'S Disease Paget Disease Of Bone, Familial Bone Paget Disease Familial Paget'S Disease Of Bone Paget'S Bone Disease Familial Paget Disease Of Bone Paget Disease, Bone Pdb Pagets Bone Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09689	NUP205 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NUP205	VGNC	VGNC:44049
Bos taurus	NUP205	VGNC	VGNC:32355
Rattus norvegicus	NUP205	RGD	RGD:1309413
Macaca mulatta	NUP205	VGNC	VGNC:75432
Felis catus	NUP205	VGNC	VGNC:63921
Mus musculus	NUP205	MGD	MGI:2141625
Others	NUP205	NCBI