Assembly factor for spindle microtubules (ASPM) Associated conditions: 1. Microcephaly 5, primary, autosomal recessive 2. Fetal akinesia deformation sequence 1
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001206846.2 | NP_001193775.1 | NC_000001.11 | (197084126..197146668, complement) | Reference GRCh38.p14 Primary Assembly | Q8IZT6 |
| 2 | REVIEWED | NM_018136.5 | NP_060606.3 | NC_000001.11 | (197084126..197146668, complement) | Reference GRCh38.p14 Primary Assembly | Q8IZT6 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Assembly factor for spindle microtubules (ASPM) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Assembly factor for spindle microtubules (ASPM)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | involved_in | neuron migration | Process | - |
| 2 | Homo sapiens | IEA | involved_in | positive regulation of neuroblast proliferation | Process | - |
| 3 | Homo sapiens | IEA | enables | calmodulin binding | Function | - |
| 4 | Homo sapiens | IDA | located_in | nucleus | Component | 21044324 |
| 5 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 6 | Homo sapiens | IEA | located_in | centrosome | Component | - |
| 7 | Homo sapiens | IMP | involved_in | spindle organization | Process | 21044324 |
| 8 | Homo sapiens | IEA | involved_in | spermatogenesis | Process | - |
| 9 | Homo sapiens | IEA | involved_in | asymmetric cell division | Process | - |
| 10 | Homo sapiens | IEA | involved_in | male gonad development | Process | - |
| 11 | Homo sapiens | IEA | located_in | apical plasma membrane | Component | - |
| 12 | Homo sapiens | IEA | involved_in | forebrain neuroblast division | Process | - |
| 13 | Homo sapiens | IEA | involved_in | cerebral cortex development | Process | - |
| 14 | Homo sapiens | IEA | located_in | midbody | Component | - |
| 15 | Homo sapiens | IDA | located_in | microtubule minus-end | Component | 21044324 |
| 16 | Homo sapiens | IEA | involved_in | negative regulation of neuron differentiation | Process | - |
| 17 | Homo sapiens | IEA | involved_in | negative regulation of asymmetric cell division | Process | - |
| 18 | Homo sapiens | IEA | involved_in | oogenesis | Process | - |
| 19 | Homo sapiens | IEA | involved_in | developmental growth | Process | - |
| 20 | Homo sapiens | IEA | involved_in | regulation of meiotic cell cycle | Process | - |
| 21 | Homo sapiens | IMP | involved_in | spindle localization | Process | 21044324 |
| 22 | Homo sapiens | IEA | involved_in | maintenance of centrosome location | Process | - |
| 23 | Homo sapiens | IEA | located_in | meiotic spindle | Component | - |
| 24 | Homo sapiens | IEA | involved_in | positive regulation of canonical Wnt signaling pathway | Process | - |
| 25 | Homo sapiens | IEA | involved_in | meiotic spindle assembly | Process | - |
| 26 | Homo sapiens | IEA | involved_in | neuronal stem cell population maintenance | Process | - |
| 27 | Homo sapiens | IDA | located_in | mitotic spindle pole | Component | 15972725 21044324 |