Kinesin family member 7 (KIF7) Associated conditions: 1. Acrocallosal syndrome 2. Joubert syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_198525.3 | NP_940927.2 | NC_000015.10 | (89617308..89663048, complement) | Reference GRCh38.p14 Primary Assembly | Q2M1P5 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Kinesin family member 7 (KIF7) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Kinesin family member 7 (KIF7)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IBA | enables | microtubule motor activity | Function | 21873635 |
| 2 | Homo sapiens | IDA | enables | microtubule motor activity | Function | 21633164 |
| 3 | Homo sapiens | IPI | enables | protein binding | Function | 19592253 21633164 |
| 4 | Homo sapiens | IEA | enables | ATP binding | Function | - |
| 5 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 6 | Homo sapiens | IBA | part_of | kinesin complex | Component | 21873635 |
| 7 | Homo sapiens | IBA | is_active_in | microtubule | Component | 21873635 |
| 8 | Homo sapiens | IDA | located_in | cilium | Component | 19592253 |
| 9 | Homo sapiens | IBA | involved_in | microtubule-based movement | Process | 21873635 |
| 10 | Homo sapiens | IBA | enables | microtubule binding | Function | 21873635 |
| 11 | Homo sapiens | IBA | enables | ATP hydrolysis activity | Function | 21873635 |
| 12 | Homo sapiens | ISS | located_in | ciliary basal body | Component | - |
| 13 | Homo sapiens | ISS | involved_in | negative regulation of smoothened signaling pathway | Process | - |
| 14 | Homo sapiens | ISS | involved_in | positive regulation of smoothened signaling pathway | Process | - |
| 15 | Homo sapiens | TAS | located_in | ciliary tip | Component | - |