• Gene id: 64837

Gene Summary

• Gene Symbol: KLC2   Gene   UCSC   Ensembl
• Gene name: kinesin light chain 2
• Alternate names: kinesin light chain 2, KLC 2,
• Gene location: 11q13.2 (66257293: 66267860)     Exons: 17     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [pro
• OMIM: 611729

Protein Summary

• Protein general information: Q9H0B6  
  • Name: Kinesin light chain 2 (KLC 2)
  • Length: 622  
  • Mass: 68935
• Sequence:

  MAMMVFPREEKLSQDEIVLGTKAVIQGLETLRGEHRALLAPLVAPEAGEAEPGSQERCILLRRSLEAIELGLGEA
  QVILALSSHLGAVESEKQKLRAQVRRLVQENQWLREELAGTQQKLQRSEQAVAQLEEEKQHLLFMSQIRKLDEDA
  SPNEEKGDVPKDTLDDLFPNEDEQSPAPSPGGGDVSGQHGGYEIPARLRTLHNLVIQYASQGRYEVAVPLCKQAL
  EDLEKTSGHDHPDVATMLNILALVYRDQNKYKEAAHLLNDALAIREKTLGKDHPAVAATLNNLAVLYGKRGKYKE
  AEPLCKRALEIREKVLGKFHPDVAKQLSNLALLCQNQGKAEEVEYYYRRALEIYATRLGPDDPNVAKTKNNLASC
  YLKQGKYQDAETLYKEILTRAHEKEFGSVNGDNKPIWMHAEEREESKDKRRDSAPYGEYGSWYKACKVDSPTVNT
  TLRSLGALYRRQGKLEAAHTLEDCASRNRKQGLDPASQTKVVELLKDGSGRRGDRRSSRDMAGGAGPRSESDLED
  VGPTAEWNGDGSGSLRRSGSFGKLRDALRRSSEMLVKKLQGGTPQEPPNPRMKRASSLNFLNKSVEEPTQPGGTG
  LSDSRTLSSSSMDLSRRSSLVG

• Structural information:
  • Interpro: IPR002151  IPR015792  IPR013026  IPR011990  IPR019734  
  • Prosite: PS01160 PS50005 PS50293
  • PDB: 3CEQ 3EDT
  • PDBsum: 3CEQ 3EDT
  • DIP: 40381
  • STRING: ENSP00000399403
• Other Databases: GeneCards:  KLC2  Malacards:  KLC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005871	kinesin complex	ISS	cellular component
GO:0003777	microtubule motor activity	IEA	molecular function
GO:0005871	kinesin complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007018	microtubule-based movement	TAS	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019894	kinesin binding	ISS	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0016938	kinesin I complex	NAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa05132	Salmonella infection

Diseases

Associated diseases	References
Spastic paraplegia, optic atrophy, and neuropathy	KEGG:H02114
Spastic paraplegia, optic atrophy, and neuropathy	KEGG:H02114
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray