ENSG00000130402
Homo sapiens | |
Features
| Gene ID: | ENSG00000130402 | | | | | Biological name : | ACTN4 | | | | | Synonyms : | actinin alpha 4 / ACTN4 / O43707 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 19 | | Strand: | 1 | | Band: | q13.2 | | Gene start: | 38647649 | | Gene end: | 38731583 | | | | | Corresponding Affymetrix probe sets: | 200601_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000465176
Ensembl peptide - ENSP00000439497
Ensembl peptide - ENSP00000467190
Ensembl peptide - ENSP00000252699
Ensembl peptide - ENSP00000398393
Ensembl peptide - ENSP00000411187
NCBI entrez gene - 81
See in Manteia.
OMIM - 604638
RefSeq - XM_017027331
RefSeq - NM_001322033
RefSeq - NM_004924
RefSeq - XM_005259281
RefSeq - XM_006723406
RefSeq Peptide - NP_001308962
RefSeq Peptide - NP_004915
swissprot - F5GXS2
swissprot - H7C144
swissprot - K7EJH8
swissprot - O43707
swissprot - K7EP19
swissprot - A0A0S2Z3G9
Ensembl - ENSG00000130402
| | | | | Related genetic diseases (OMIM): | 603278 - Glomerulosclerosis, focal segmental, 1, 603278 |
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:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the 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:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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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:0001903 | Anemia | |
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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:0003677 | Slow progression | |
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| | HP:0003774 | End stage renal disease | |
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| | HP:0003828 | Variable expressivity | |
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| | HP:0003829 | Incomplete penetrance | |
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Interacting proteins (from Reactome)
| ENSG00000161270 | NPHS1 / O60500 / NPHS1, nephrin | / complex / reaction | | ENSG00000183853 | Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1 | / reaction / complex |
0 s.
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