Metazoan complexes |
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Emili & Marcotte labs |
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Details of CENPJ gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| CENPJ | CPAP,LAP,LIP1 | Q9HC77 | CENPJ_HUMAN | 55835 | ENSG00000151849 | Centromere protein J | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Microcephaly, primary, 6 (MCPH6) [MIM:608393]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Note=The disease is caused by mutations affecting the gene represented in this entry. | 608393 | Seckel syndrome 4 (SCKL4) [MIM:613676]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613676 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Cenpj | Sas-4 | --- | --- |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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