Metazoan complexes |
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Details of TUBB2B gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| TUBB2B | --- | Q9BVA1 | TBB2B_HUMAN | 347733 | ENSG00000137285 | Tubulin beta-2B chain | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Polymicrogyria, symmetric or asymmetric (PMGYSA) [MIM:610031]: A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. Note=The disease is caused by mutations affecting the gene represented in this entry. | 610031 |
Phenotypes
Abnormal axial skeleton morphology, Abnormal cortical gyration, Abnormality of central motor function, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of neuronal migration, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebral cortex, Abnormality of the cerebral subcortex, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the corpus callosum, Abnormality of the eye, Abnormality of the forebrain, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the metencephalon, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the skull, Agenesis of corpus callosum, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar hypoplasia, Cognitive impairment, Cortical dysplasia, Dysplastic corpus callosum, Frontoparietal cortical dysplasia, Global developmental delay, Hemiparesis, Hemiplegia/hemiparesis, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Paralysis due to lesions of the principle motor tracts, Phenotypic abnormality, Polymicrogyria, Seizures, Specific learning disability, Unilateral polymicrogyria.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Tubb2b | betaTub85D | tbb-4 | --- |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
TUBB2B | TUBA1C | 0.736378882 | TUBB2B | TUBA1C | cpx259 | no | yes | yes | Known |
TUBB2B | TUBA3E | 0.76290059 | TUBB2B | TUBA3E | cpx259 | no | yes | yes | Known |
RPS15A | TUBB2B | 0.975973726 | RPS15A | TUBB2B | cpx973 | no | yes | no | Known |