Metazoan complexes |
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Emili & Marcotte labs |
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Details of MRE11A gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| MRE11A | HNGS1,MRE11 | P49959 | MRE11_HUMAN | 4361 | ENSG00000020922 | Double-strand break repair protein MRE11A | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Ataxia-telangiectasia-like disorder (ATLD) [MIM:604391]: A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis. Note=The disease is caused by mutations affecting the gene represented in this entry. | 604391 | Note=Defects in MRE11A can be a cause of nephronophthisis-related ciliopathies (NPHP-RC), a group of recessive diseases that affect kidney, retina and brain. A homozygous truncating mutation MRE11A has been found in patients with cerebellar vermis hypoplasia, ataxia and dysarthria. | 604391 |
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Mre11a | mre11 | mre-11 | Sp-Mre11... |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
MRE11A | RAD50 | 1 | MRE11A | RAD50 | cpx394 | yes | yes | yes | Known |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
MRE11A | CHAMP1 | 0.084620624 | MRE11A | CHAMP1 |
HOOK3 | MRE11A | 0.084461479 | HOOK3 | MRE11A |
MRE11A | TPR | 0.081942299 | MRE11A | TPR |
SMARCC2 | MRE11A | 0.104889112 | SMARCC2 | MRE11A |
MRE11A | CCDC164 | 0.071774983 | MRE11A | CCDC164 |
MRE11A | XRCC6 | 0.073470561 | MRE11A | XRCC6 |
MRE11A | AIDA | 0.080579573 | MRE11A | AIDA |
TACC3 | MRE11A | 0.073489168 | TACC3 | MRE11A |
SMARCC1 | MRE11A | 0.071184421 | SMARCC1 | MRE11A |
MRE11A | FEN1 | 0.109239124 | MRE11A | FEN1 |
MRE11A | GCC2 | 0.120977871 | MRE11A | GCC2 |