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.

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 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
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