ENSG00000108515
Homo sapiens | |
Features
| Gene ID: | ENSG00000108515 | | | | | Biological name : | ENO3 | | | | | Synonyms : | ENO3 / enolase 3 / P13929 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 17 | | Strand: | 1 | | Band: | p13.2 | | Gene start: | 4948092 | | Gene end: | 4957131 | | | | | Corresponding Affymetrix probe sets: | 204483_at (Human Genome U133 Plus 2.0 Array) 237691_x_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000430636
Ensembl peptide - ENSP00000431087
Ensembl peptide - ENSP00000467444
Ensembl peptide - ENSP00000467270
Ensembl peptide - ENSP00000465697
Ensembl peptide - ENSP00000464874
Ensembl peptide - ENSP00000324105
Ensembl peptide - ENSP00000428502
Ensembl peptide - ENSP00000428811
Ensembl peptide - ENSP00000430055
Ensembl peptide - ENSP00000430554
NCBI entrez gene - 2027
See in Manteia.
OMIM - 131370
RefSeq - XM_017024346
RefSeq - NM_001193503
RefSeq - NM_001976
RefSeq - NM_053013
RefSeq - XM_005256521
RefSeq - XM_011523729
RefSeq Peptide - NP_001967
RefSeq Peptide - NP_443739
RefSeq Peptide - NP_001180432
swissprot - E5RI09
swissprot - E5RGZ4
swissprot - E5RG95
swissprot - K7EKN2
swissprot - K7EPM1
swissprot - K7EP84
swissprot - P13929
swissprot - E5RJH5
Ensembl - ENSG00000108515
| | | | | Related genetic diseases (OMIM): | 612932 - ?Glycogen storage disease XIII, 612932 |
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:0003236 | Elevated serum creatine phosphokinase | |
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| | HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| | HP:0003546 | Exercise intolerance | |
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| | HP:0003581 | Onset in adulthood | |
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| | HP:0009051 | Increased muscle glycogen content | "An increased amount of glycogen, which functions as a secondary short term energy storage in several organs, in muscle tissue." [HPO:curators] |
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Interacting proteins (from Reactome)
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