ENSG00000177084
Homo sapiens | |
Features
| Gene ID: | ENSG00000177084 | | | | | Biological name : | POLE | | | | | Synonyms : | DNA polymerase epsilon, catalytic subunit / POLE / Q07864 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 12 | | Strand: | -1 | | Band: | q24.33 | | Gene start: | 132623753 | | Gene end: | 132687365 | | | | | Corresponding Affymetrix probe sets: | 216026_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000480727
Ensembl peptide - ENSP00000442578
Ensembl peptide - ENSP00000445753
Ensembl peptide - ENSP00000479927
Ensembl peptide - ENSP00000322570
NCBI entrez gene - 5426
See in Manteia.
OMIM - 174762
RefSeq - XM_011534800
RefSeq - NM_006231
RefSeq - XM_011534795
RefSeq - XM_011534797
RefSeq - XM_011534798
RefSeq - XM_011534799
RefSeq Peptide - NP_006222
swissprot - Q07864
swissprot - A0A087WX51
swissprot - F5H1D6
swissprot - F5H7E4
swissprot - A0A087WW42
Ensembl - ENSG00000177084
| | | | | Related genetic diseases (OMIM): | 615083 - {Colorectal cancer, susceptibility to, 12}, 615083 | | | 615139 - FILS syndrome, 615139 |
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)
No match
Protein motifs (from Interpro)
| IPR006133 | DNA-directed DNA polymerase, family B, exonuclease domain | | IPR006134 | DNA-directed DNA polymerase, family B, multifunctional domain | | IPR006172 | DNA-directed DNA polymerase, family B | | IPR012337 | Ribonuclease H-like superfamily | | IPR013697 | DNA polymerase epsilon, catalytic subunit A, C-terminal | | IPR023211 | DNA polymerase, palm domain superfamily | | IPR029703 | DNA polymerase epsilon catalytic subunit | | IPR036397 | Ribonuclease H superfamily |
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:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| | HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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| | HP:0001999 | Facial dysmorphism | |
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| | HP:0002205 | Recurrent respiratory infections | |
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| | HP:0002653 | Bone pain | |
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| | HP:0002721 | Immunodeficiency | |
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| | HP:0003577 | Onset at birth | |
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| | HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| | HP:0004482 | Relative macrocephaly | "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [HPO:curators] |
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| | HP:0007421 | Telangiectases of the cheeks | "Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks." [HPO:curators] |
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Interacting proteins (from Reactome)
| ENSG00000115350 | POLE4 / Q9NR33 / DNA polymerase epsilon 4, accessory subunit | / complex | | ENSG00000100479 | POLE2 / P56282 / DNA polymerase epsilon 2, accessory subunit | / complex | | ENSG00000014138 | POLA2 / Q14181 / DNA polymerase alpha 2, accessory subunit | / complex / reaction | | ENSG00000146143 | PRIM2 / P49643 / DNA primase subunit 2 | / complex / reaction | | ENSG00000198056 | PRIM1 / P49642 / DNA primase subunit 1 | / complex / reaction | | ENSG00000148229 | POLE3 / Q9NRF9 / DNA polymerase epsilon 3, accessory subunit | / complex | | ENSG00000101868 | POLA1 / P09884 / DNA polymerase alpha 1, catalytic subunit | / complex / reaction |
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