KIF16B
Kinesin Family Member 16B
Gene Information Card
| Symbol | KIF16B |
|---|---|
| Full Name | kinesin family member 16B |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 55614 ncbi.nlm.nih.gov/gene/55614 |
| Ensembl ID | ENSG00000101282 |
| UniProt ID | Q96L93 |
| OMIM ID | 614559 |
| HGNC ID | 29423 |
| Aliases | KIAA1597, SNX23, KIF16B |
Description
KIF16B encodes a member of the kinesin-3 family of microtubule-based motor proteins. The protein contains an N-terminal motor domain, a coiled-coil stalk, and a C-terminal PX (phox homology) domain that binds phosphatidylinositol 3-phosphate. KIF16B is involved in endosomal transport, particularly the movement of early endosomes along microtubules, and plays a role in receptor recycling and cell migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Somatic mutations and copy number alterations may affect endosomal trafficking and cell proliferation | COSMIC database reports mutations in multiple cancer types |
| Neurodevelopmental disorders | Rare missense variants potentially impair microtubule-based transport | ClinVar entries for uncertain significance |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.4 | Medium |
| Lung | 8.1 | Low |
| Liver | 6.3 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| A549 | 7.2 | Low expression |
| MCF7 | 11.3 | Moderate expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Unknown significance |
| c.2567C>T (p.Thr856Met) | Missense | <0.01% | Unknown significance |
| c.3456_3457insA | Frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense variants that truncate the motor or PX domain likely impair endosomal transport.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function variants reported.
Dominant Negative (DN)
Missense mutations in the motor domain may interfere with dimerization or cargo binding, potentially acting in a dominant-negative manner.
View complete mutation data:
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • microtubule binding | • phosphatidylinositol-3-phosphate binding |
| • endosomal transport | • intracellular protein transport |
Pathways
• Kinesin-mediated transport of endosomes
• Endosomal recycling pathway
Protein Summary
KIF16B is a 1318-amino acid kinesin-3 family motor protein that transports early endosomes along microtubules. It contains an N-terminal motor domain for ATP-dependent movement, a coiled-coil region for dimerization, and a C-terminal PX domain that binds phosphatidylinositol 3-phosphate on endosomal membranes. The protein is widely expressed, with highest levels in testis and brain. Mutations in KIF16B are rare but have been identified in cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF16B Knockout HEK293 Cell Line | EDJ-KQ13936 | Human | 55614 | Details Get a Quote |
| KIF16B Knockout A-549 Cell Line | EDJ-KQ43832 | Human | 55614 | Details Get a Quote |
| KIF16B Knockout HCT 116 Cell Line | EDJ-KQ43833 | Human | 55614 | Details Get a Quote |
| KIF16B Knockout HeLa Cell Line | EDJ-KQ43834 | Human | 55614 | Details Get a Quote |