ENSG00000123815
Homo sapiens | |
Features
| Gene ID: | ENSG00000123815 | | | | | Biological name : | COQ8B | | | | | Synonyms : | coenzyme Q8B / COQ8B / Q96D53 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 19 | | Strand: | -1 | | Band: | q13.2 | | Gene start: | 40691529 | | Gene end: | 40718207 | | | | | Corresponding Affymetrix probe sets: | 220434_at (Human Genome U133 Plus 2.0 Array) 227324_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000472925
Ensembl peptide - ENSP00000472978
Ensembl peptide - ENSP00000473189
Ensembl peptide - ENSP00000473017
Ensembl peptide - ENSP00000243583
Ensembl peptide - ENSP00000315118
Ensembl peptide - ENSP00000470876
Ensembl peptide - ENSP00000470894
Ensembl peptide - ENSP00000470916
Ensembl peptide - ENSP00000471192
Ensembl peptide - ENSP00000471310
Ensembl peptide - ENSP00000472519
Ensembl peptide - ENSP00000472775
NCBI entrez gene - 79934
See in Manteia.
OMIM - 615567
RefSeq - NM_024876
RefSeq - NM_001142555
RefSeq Peptide - NP_001136027
RefSeq Peptide - NP_079152
swissprot - M0R011
swissprot - M0R0F4
swissprot - M0R0L2
swissprot - M0R2F4
swissprot - M0R307
swissprot - M0R340
swissprot - M0R362
swissprot - M0R3F7
swissprot - A0A0G2JLJ7
swissprot - Q96D53
swissprot - A0A024R0Q9
swissprot - M0QZZ2
swissprot - M0R001
Ensembl - ENSG00000123815
| | | | | Related genetic diseases (OMIM): | 615573 - Nephrotic syndrome, type 9, 615573 |
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)
No match
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:0003676 | Progressive disorder | |
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| | HP:0003774 | End stage renal disease | |
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Interacting proteins (from Reactome)
No match
0 s.
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