ENSG00000116218
Homo sapiens | |
Features
| Gene ID: | ENSG00000116218 | | | | | Biological name : | NPHS2 | | | | | Synonyms : | NPHS2 / NPHS2, podocin / Q9NP85 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | q25.2 | | Gene start: | 179550539 | | Gene end: | 179575952 | | | | | Corresponding Affymetrix probe sets: | 220424_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000356587
Ensembl peptide - ENSP00000356588
NCBI entrez gene - 7827
See in Manteia.
OMIM - 604766
RefSeq - XM_017002299
RefSeq - NM_001297575
RefSeq - NM_014625
RefSeq - XM_005245483
RefSeq - XM_017002298
RefSeq Peptide - NP_001284504
RefSeq Peptide - NP_055440
swissprot - Q9NP85
Ensembl - ENSG00000116218
| | | | | Related genetic diseases (OMIM): | 600995 - Nephrotic syndrome, type 2, 600995 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000093 | Proteinuria | |
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| | HP:0000097 | Focal segmental glomerulosclerosis | |
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| | HP:0000100 | Nephrotic syndrome | |
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| | HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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| | HP:0003073 | Hypoalbuminemia | "Reduction in the concentration of albumin in the blood." [HPO:curators] |
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| | HP:0003077 | Hyperlipidemia | |
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| | HP:0003621 | Juvenile onset | |
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| | HP:0003678 | Rapidly progressive | |
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| | HP:0003774 | End stage renal disease | |
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| | HP:0003828 | Variable expressivity | |
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Interacting proteins (from Reactome)
| ENSG00000010810 | FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase | / complex / reaction | | ENSG00000161270 | NPHS1 / O60500 / NPHS1, nephrin | / complex / reaction | | ENSG00000183853 | Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1 | / complex / reaction | | ENSG00000116218 | NPHS2 / Q9NP85 / NPHS2, podocin | / - |
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