KLC2 (kinesin light chain 2)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 64837
• Gene name: Kinesin light chain 2
• Gene symbol: KLC2
• Synonyms (NCBI Gene): -
• Chromosome: 11
• Chromosome location: 11q13.2
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554996989	GCTAGGGCTGTGGATGAGCACTGCAGGAAGGCACTTCGGGGTCTATCAGAGGAAATTTTTGCTAACCTTCCGAGTTGTCTCAGAGCCAAACGTAGTAAGCTACCTGTCACCGGATGTGCTTGAGCTAAGGGCGCTGAACCACCTCTGTCAGAGACGGTGCATCCCCCACCGGATGTGACCCCGGGATGCGGAGCCTGGGGTCAGATCTGCGAGCCAG>-	Pathogenic	Upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant

miRNA Show/Hide all (171)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049334	hsa-miR-92a-3p	CLASH	23622248
MIRT047944	hsa-miR-30c-5p	CLASH	23622248
MIRT043375	hsa-miR-331-3p	CLASH	23622248
MIRT042175	hsa-miR-484	CLASH	23622248
MIRT727349	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT727348	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT727347	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT727346	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT1095601	hsa-miR-10a	CLIP-seq
MIRT1095602	hsa-miR-10b	CLIP-seq
MIRT1095603	hsa-miR-1227	CLIP-seq
MIRT1095604	hsa-miR-125a-5p	CLIP-seq
MIRT1095605	hsa-miR-125b	CLIP-seq
MIRT1095606	hsa-miR-1273f	CLIP-seq
MIRT1095607	hsa-miR-143	CLIP-seq
MIRT1095608	hsa-miR-15a	CLIP-seq
MIRT1095609	hsa-miR-15b	CLIP-seq
MIRT1095610	hsa-miR-16	CLIP-seq
MIRT1095611	hsa-miR-185	CLIP-seq
MIRT1095612	hsa-miR-195	CLIP-seq
MIRT1095613	hsa-miR-214	CLIP-seq
MIRT1095614	hsa-miR-2278	CLIP-seq
MIRT1095615	hsa-miR-24	CLIP-seq
MIRT1095616	hsa-miR-3155	CLIP-seq
MIRT1095617	hsa-miR-3155b	CLIP-seq
MIRT1095618	hsa-miR-3184	CLIP-seq
MIRT1095619	hsa-miR-342-5p	CLIP-seq
MIRT1095620	hsa-miR-3619-5p	CLIP-seq
MIRT1095621	hsa-miR-3929	CLIP-seq
MIRT1095622	hsa-miR-3937	CLIP-seq
MIRT1095623	hsa-miR-409-5p	CLIP-seq
MIRT1095624	hsa-miR-423-5p	CLIP-seq
MIRT1095625	hsa-miR-424	CLIP-seq
MIRT1095626	hsa-miR-4306	CLIP-seq
MIRT1095627	hsa-miR-4319	CLIP-seq
MIRT1095628	hsa-miR-4324	CLIP-seq
MIRT1095629	hsa-miR-4419b	CLIP-seq
MIRT1095630	hsa-miR-4434	CLIP-seq
MIRT1095631	hsa-miR-4437	CLIP-seq
MIRT1095632	hsa-miR-4446-3p	CLIP-seq
MIRT1095633	hsa-miR-4455	CLIP-seq
MIRT1095634	hsa-miR-4478	CLIP-seq
MIRT1095635	hsa-miR-4492	CLIP-seq
MIRT1095636	hsa-miR-4498	CLIP-seq
MIRT1095637	hsa-miR-4505	CLIP-seq
MIRT1095638	hsa-miR-4516	CLIP-seq
MIRT1095639	hsa-miR-4641	CLIP-seq
MIRT1095640	hsa-miR-4644	CLIP-seq
MIRT1095641	hsa-miR-4651	CLIP-seq
MIRT1095642	hsa-miR-4664-5p	CLIP-seq
MIRT1095643	hsa-miR-4685-5p	CLIP-seq
MIRT1095644	hsa-miR-4690-5p	CLIP-seq
MIRT1095645	hsa-miR-4708-5p	CLIP-seq
MIRT1095646	hsa-miR-4710	CLIP-seq
MIRT1095647	hsa-miR-4731-5p	CLIP-seq
MIRT1095648	hsa-miR-4770	CLIP-seq
MIRT1095649	hsa-miR-497	CLIP-seq
MIRT1095650	hsa-miR-608	CLIP-seq
MIRT1095651	hsa-miR-761	CLIP-seq
MIRT1095652	hsa-miR-762	CLIP-seq
MIRT1095601	hsa-miR-10a	CLIP-seq
MIRT1095602	hsa-miR-10b	CLIP-seq
MIRT1095653	hsa-miR-1207-5p	CLIP-seq
MIRT1095604	hsa-miR-125a-5p	CLIP-seq
MIRT1095605	hsa-miR-125b	CLIP-seq
MIRT1095654	hsa-miR-148a	CLIP-seq
MIRT1095655	hsa-miR-148b	CLIP-seq
MIRT1095656	hsa-miR-152	CLIP-seq
MIRT1095657	hsa-miR-1538	CLIP-seq
MIRT1095611	hsa-miR-185	CLIP-seq
MIRT1095658	hsa-miR-3126-5p	CLIP-seq
MIRT1095618	hsa-miR-3184	CLIP-seq
MIRT1095659	hsa-miR-34a	CLIP-seq
MIRT1095660	hsa-miR-34c-5p	CLIP-seq
MIRT1095661	hsa-miR-3918	CLIP-seq
MIRT1095622	hsa-miR-3937	CLIP-seq
MIRT1095623	hsa-miR-409-5p	CLIP-seq
MIRT1095624	hsa-miR-423-5p	CLIP-seq
MIRT1095662	hsa-miR-4285	CLIP-seq
MIRT1095626	hsa-miR-4306	CLIP-seq
MIRT1095627	hsa-miR-4319	CLIP-seq
MIRT1095628	hsa-miR-4324	CLIP-seq
MIRT1095630	hsa-miR-4434	CLIP-seq
MIRT1095663	hsa-miR-4486	CLIP-seq
MIRT1095664	hsa-miR-449a	CLIP-seq
MIRT1095665	hsa-miR-449b	CLIP-seq
MIRT1095638	hsa-miR-4516	CLIP-seq
MIRT1095640	hsa-miR-4644	CLIP-seq
MIRT1095666	hsa-miR-4648	CLIP-seq
MIRT1095667	hsa-miR-4654	CLIP-seq
MIRT1095668	hsa-miR-4675	CLIP-seq
MIRT1095669	hsa-miR-4688	CLIP-seq
MIRT1095670	hsa-miR-4706	CLIP-seq
MIRT1095671	hsa-miR-4741	CLIP-seq
MIRT1095672	hsa-miR-4745-3p	CLIP-seq
MIRT1095673	hsa-miR-4749-5p	CLIP-seq
MIRT1095674	hsa-miR-4753-5p	CLIP-seq
MIRT1095675	hsa-miR-4763-3p	CLIP-seq
MIRT1095676	hsa-miR-4769-5p	CLIP-seq
MIRT1095677	hsa-miR-486-3p	CLIP-seq
MIRT1095678	hsa-miR-520f	CLIP-seq
MIRT1095679	hsa-miR-661	CLIP-seq
MIRT1095680	hsa-miR-744	CLIP-seq
MIRT2025692	hsa-miR-1287	CLIP-seq
MIRT2025693	hsa-miR-1291	CLIP-seq
MIRT1095657	hsa-miR-1538	CLIP-seq
MIRT2025694	hsa-miR-1976	CLIP-seq
MIRT1095614	hsa-miR-2278	CLIP-seq
MIRT1095615	hsa-miR-24	CLIP-seq
MIRT2025695	hsa-miR-3135b	CLIP-seq
MIRT1095616	hsa-miR-3155	CLIP-seq
MIRT1095617	hsa-miR-3155b	CLIP-seq
MIRT2025696	hsa-miR-3173-5p	CLIP-seq
MIRT1095618	hsa-miR-3184	CLIP-seq
MIRT2025697	hsa-miR-3202	CLIP-seq
MIRT1095619	hsa-miR-342-5p	CLIP-seq
MIRT2025698	hsa-miR-370	CLIP-seq
MIRT1095621	hsa-miR-3929	CLIP-seq
MIRT1095624	hsa-miR-423-5p	CLIP-seq
MIRT1095629	hsa-miR-4419b	CLIP-seq
MIRT1095631	hsa-miR-4437	CLIP-seq
MIRT1095632	hsa-miR-4446-3p	CLIP-seq
MIRT1095634	hsa-miR-4478	CLIP-seq
MIRT2025699	hsa-miR-4485	CLIP-seq
MIRT1095635	hsa-miR-4492	CLIP-seq
MIRT1095636	hsa-miR-4498	CLIP-seq
MIRT1095637	hsa-miR-4505	CLIP-seq
MIRT2025700	hsa-miR-4533	CLIP-seq
MIRT1095639	hsa-miR-4641	CLIP-seq
MIRT1095641	hsa-miR-4651	CLIP-seq
MIRT1095642	hsa-miR-4664-5p	CLIP-seq
MIRT1095643	hsa-miR-4685-5p	CLIP-seq
MIRT1095646	hsa-miR-4710	CLIP-seq
MIRT1095647	hsa-miR-4731-5p	CLIP-seq
MIRT1095672	hsa-miR-4745-3p	CLIP-seq
MIRT2025701	hsa-miR-4785	CLIP-seq
MIRT1095650	hsa-miR-608	CLIP-seq
MIRT2025702	hsa-miR-627	CLIP-seq
MIRT1095652	hsa-miR-762	CLIP-seq
MIRT1095603	hsa-miR-1227	CLIP-seq
MIRT2256886	hsa-miR-139-5p	CLIP-seq
MIRT1095608	hsa-miR-15a	CLIP-seq
MIRT1095609	hsa-miR-15b	CLIP-seq
MIRT1095610	hsa-miR-16	CLIP-seq
MIRT1095611	hsa-miR-185	CLIP-seq
MIRT1095612	hsa-miR-195	CLIP-seq
MIRT1095613	hsa-miR-214	CLIP-seq
MIRT2256887	hsa-miR-3120-3p	CLIP-seq
MIRT1095618	hsa-miR-3184	CLIP-seq
MIRT1095619	hsa-miR-342-5p	CLIP-seq
MIRT1095620	hsa-miR-3619-5p	CLIP-seq
MIRT1095624	hsa-miR-423-5p	CLIP-seq
MIRT1095625	hsa-miR-424	CLIP-seq
MIRT1095626	hsa-miR-4306	CLIP-seq
MIRT1095632	hsa-miR-4446-3p	CLIP-seq
MIRT1095633	hsa-miR-4455	CLIP-seq
MIRT1095635	hsa-miR-4492	CLIP-seq
MIRT1095636	hsa-miR-4498	CLIP-seq
MIRT1095637	hsa-miR-4505	CLIP-seq
MIRT1095639	hsa-miR-4641	CLIP-seq
MIRT1095640	hsa-miR-4644	CLIP-seq
MIRT1095641	hsa-miR-4651	CLIP-seq
MIRT1095642	hsa-miR-4664-5p	CLIP-seq
MIRT1095644	hsa-miR-4690-5p	CLIP-seq
MIRT1095646	hsa-miR-4710	CLIP-seq
MIRT1095647	hsa-miR-4731-5p	CLIP-seq
MIRT2256888	hsa-miR-4755-3p	CLIP-seq
MIRT1095649	hsa-miR-497	CLIP-seq
MIRT1095650	hsa-miR-608	CLIP-seq
MIRT1095651	hsa-miR-761	CLIP-seq
MIRT1095652	hsa-miR-762	CLIP-seq

Gene ontology (GO) Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	14985359, 15161933, 15778465, 25855459, 28514442, 33961781, 35271311, 36217029, 36931259
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	IEA
GO:0005871	Component	Kinesin complex	ISS
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0007018	Process	Microtubule-based movement	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016938	Component	Kinesin I complex	NAS	20510358
GO:0019894	Function	Kinesin binding	IBA
GO:0019894	Function	Kinesin binding	ISS
GO:0032418	Process	Lysosome localization	IMP	22172677
GO:0032991	Component	Protein-containing complex	IDA
GO:0045296	Function	Cadherin binding	HDA	25468996

Other IDs

• MIM: 611729
• HGNC: 20716
• e!Ensembl: ENSG00000174996

Protein

• UniProt ID: Q9H0B6
• Protein name: Kinesin light chain 2 (KLC 2)
• Protein function: Kinesin is a microtubule-associated force-producing protein that plays a role in organelle transport. The light chain functions in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (Probable). Through binding with
• PDB: 3CEQ , 3EDT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13424	TPR_12	280 → 356		Repeat
  PF13424	TPR_12	196 → 272		Repeat
  PF13424	TPR_12	322 → 397		Repeat
  PF13424	TPR_12	261 → 314		Repeat

• Sequence:

  MAMMVFPREEKLSQDEIVLGTKAVIQGLETLRGEHRALLAPLVAPEAGEAEPGSQERCIL
  LRRSLEAIELGLGEAQVILALSSHLGAVESEKQKLRAQVRRLVQENQWLREELAGTQQKL
  QRSEQAVAQLEEEKQHLLFMSQIRKLDEDASPNEEKGDVPKDTLDDLFPNEDEQSPAPSP
  GGGDVSGQHGGYEIPARLRTLHNLVIQYASQGRYEVAVPLCKQALEDLEKTSGHDHPDVA
  TMLNILALVYRDQNKYKEAAHLLNDALAIREKTLGKDHPAVAATLNNLAVLYGKRGKYKE
  AEPLCKRALEIREKVLGKFHPDVAKQLSNLALLCQNQGKAEEVEYYYRRALEIYATRLGP
  DDPNVAKTKNNLASCYLKQGKYQDAETLYKEILTRAHEKEFGSVNGDNKPIWMHAEEREE
  SKDKRRDSAPYGEYGSWYKACKVDSPTVNTTLRSLGALYRRQGKLEAAHTLEDCASRNRK
  QGLDPASQTKVVELLKDGSGRRGDRRSSRDMAGGAGPRSESDLEDVGPTAEWNGDGSGSL
  RRSGSFGKLRDALRRSSEMLVKKLQGGTPQEPPNPRMKRASSLNFLNKSVEEPTQPGGTG
  LSDSRTLSSSSMDLSRRSSLVG

• Sequence length: 622

Pathways

KEGG Pathway	Reactome Pathway
Motor proteins	MHC class II antigen presentation
Alzheimer disease	RHO GTPases activate KTN1
Parkinson disease	COPI-dependent Golgi-to-ER retrograde traffic
Amyotrophic lateral sclerosis	Kinesins
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Salmonella infection

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spastic paraplegia, optic atropy, and neuropathy	Pathogenic	rs1554996989	RCV000207491	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (9)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLC2-related disorder	Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

KLC3 8 shared pathwaysMotor proteins, Parkinson disease, Prion disease, Salmonella infection, COPI-dependent Golgi-to-ER retrograde traffic, MHC class II antigen presentation, Kinesins, RHO GTPases activate KTN1 Related via 8 shared pathways including Motor proteins, Parkinson disease. KLC1 8 shared pathwaysMotor proteins, Parkinson disease, Prion disease, Salmonella infection, COPI-dependent Golgi-to-ER retrograde traffic, MHC class II antigen presentation, Kinesins, RHO GTPases activate KTN1 Related via 8 shared pathways including Motor proteins, Parkinson disease. KLC4 8 shared pathwaysMotor proteins, Parkinson disease, Prion disease, Salmonella infection, COPI-dependent Golgi-to-ER retrograde traffic, MHC class II antigen presentation, Kinesins, RHO GTPases activate KTN1 Related via 8 shared pathways including Motor proteins, Parkinson disease. KIF5A 8 shared pathwaysMotor proteins, Parkinson disease, Prion disease, Salmonella infection, COPI-dependent Golgi-to-ER retrograde traffic, MHC class II antigen presentation, Kinesins, RHO GTPases activate KTN1 Related via 8 shared pathways including Motor proteins, Parkinson disease. KIF5B 8 shared pathwaysMotor proteins, Parkinson disease, Prion disease, Salmonella infection, COPI-dependent Golgi-to-ER retrograde traffic, MHC class II antigen presentation, Kinesins, RHO GTPases activate KTN1 Related via 8 shared pathways including Motor proteins, Parkinson disease.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KLC3	0	[]	8	["Motor proteins","Parkinson disease","Prion disease","Salmonella infection","COPI-dependent Golgi-to-ER retrograde traffic","MHC class II antigen presentation","Kinesins","RHO GTPases activate KTN1"]	0	[]
KLC1	0	[]	8	["Motor proteins","Parkinson disease","Prion disease","Salmonella infection","COPI-dependent Golgi-to-ER retrograde traffic","MHC class II antigen presentation","Kinesins","RHO GTPases activate KTN1"]	0	[]
KLC4	0	[]	8	["Motor proteins","Parkinson disease","Prion disease","Salmonella infection","COPI-dependent Golgi-to-ER retrograde traffic","MHC class II antigen presentation","Kinesins","RHO GTPases activate KTN1"]	0	[]
KIF5A	0	[]	8	["Motor proteins","Parkinson disease","Prion disease","Salmonella infection","COPI-dependent Golgi-to-ER retrograde traffic","MHC class II antigen presentation","Kinesins","RHO GTPases activate KTN1"]	0	[]
KIF5B	0	[]	8	["Motor proteins","Parkinson disease","Prion disease","Salmonella infection","COPI-dependent Golgi-to-ER retrograde traffic","MHC class II antigen presentation","Kinesins","RHO GTPases activate KTN1"]	0	[]

Diseases Linked via Similar Genes

Schizophrenia Linked via 3 of 5 related genesKLC1, KIF5A, KIF5B Alzheimer disease Linked via 2 of 5 related genesKLC3, KLC1 Attention deficit hyperactivity disorder Linked via 2 of 5 related genesKLC1, KIF5B Bipolar disorder Linked via 2 of 5 related genesKLC1, KIF5B Insomnia Linked via 2 of 5 related genesKLC1, KIF5A

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Schizophrenia	3	["KLC1","KIF5A","KIF5B"]
Alzheimer disease	2	["KLC3","KLC1"]
Attention deficit hyperactivity disorder	2	["KLC1","KIF5B"]
Bipolar disorder	2	["KLC1","KIF5B"]
Insomnia	2	["KLC1","KIF5A"]