KIF2B

Kinesin Family Member 2B

Gene Information Card

Symbol KIF2B
Full Name kinesin family member 2B
Gene Type protein-coding
Chromosomal Location 17q21.31
NCBI Gene ID 84643 ncbi.nlm.nih.gov/gene/84643
Ensembl ID ENSG00000141560
UniProt ID Q8N4N8
OMIM ID 608322
HGNC ID 29423
Aliases KIF2B, KIF2B_HUMAN, MGC138290

Description

KIF2B encodes a member of the kinesin-13 family of microtubule depolymerases. The protein localizes to the mitotic spindle and is involved in microtubule dynamics during cell division, particularly in chromosome segregation and spindle assembly. It is expressed in multiple tissues and has been implicated in cancer and neurodevelopmental disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Dysregulation of KIF2B expression alters microtubule dynamics, promoting aneuploidy and tumor progression COSMIC, ClinVar
Neurodevelopmental disorders Loss-of-function mutations may impair neuronal migration and differentiation OMIM, ClinVar

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Brain 8.2 Low
Lung 6.1 Low
Liver 4.3 Low
Kidney 5.7 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.3 High expression in cervical cancer cell line
HEK293 9.8 Moderate expression in embryonic kidney cells
A549 7.4 Low expression in lung cancer cells
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1015C>T (p.Arg339*) Nonsense <0.1% Loss of function; truncation of protein
c.1420G>A (p.Glu474Lys) Missense <0.1% Unknown; predicted damaging by SIFT
c.1876_1877insA Frameshift <0.1% Loss of function; premature stop
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations lead to truncated or absent protein, impairing microtubule depolymerase activity.

Gain of Function (GOF)

Not reported in curated databases.

Dominant Negative (DN)

Not reported in curated databases.

Gene Ontology (GO)

• microtubule binding • ATP binding
• microtubule depolymerase activity • mitotic spindle organization
• cell division

Pathways

• Mitotic spindle assembly
• Microtubule dynamics

Protein Summary

KIF2B is a 706-amino acid protein belonging to the kinesin-13 family. It contains a motor domain that uses ATP hydrolysis to depolymerize microtubules from their ends, crucial for proper chromosome segregation during mitosis. The protein is localized to the spindle poles and kinetochores.

Related Products

Product name Cat.No. Species Gene ID
KIF2B Knockout HEK293 Cell Line EDJ-KQ10148 Human 84643 Details Get a Quote
KIF2B Knockout HeLa Cell Line EDJ-KQ57628 Human 84643 Details Get a Quote
KIF2B Knockout A-549 Cell Line EDJ-KQ66126 Human 84643 Details Get a Quote
KIF2B Knockout HCT 116 Cell Line EDJ-KQ74551 Human 84643 Details Get a Quote
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