NUP205 - nucleoporin 205 Gene

Homo sapiens

Also known as NPHS13; C7orf14

Gene ID: 23165 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in nuclear pore complex assembly	IMP IMP: Inferred from mutant phenotype	15229283	GOA

Cellular Component GO Annotation	Evidence	Reference	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 Cross	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.