KLC2 - kinesin light chain 2 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64837

About KLC2

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:66,243,938-66,267,860 (from NCBI)

This gene has 14 transcripts (splice variants), 183 orthologues, 5 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 19.0), testis (RPKM 14.0) and 23 other tissues.

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. [provided by RefSeq, Mar 2016]

KLC2 Products (5)

mRNA Protein Name
NM_001134774.2 NP_001128246.1 kinesin light chain 2 isoform 2
NM_001134775.2 NP_001128247.1 kinesin light chain 2 isoform 1
NM_001134776.2 NP_001128248.1 kinesin light chain 2 isoform 1
NM_001318734.2 NP_001305663.1 kinesin light chain 2 isoform 1
NM_022822.3 NP_073733.1 kinesin light chain 2 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
14985359 GOA
Biological Process GO Annotation Evidence References Source
involved in lysosome localization IMP
IMP: Inferred from mutant phenotype
22172677 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KLC2 Protein Structure

Rab5-bind

Rab5-bind: Rabaptin-like protein (69 - 239)

TPR_2

TPR_2: Tetratricopeptide repeat (243 - 270)

TPR_12

TPR_12: Tetratricopeptide repeat (278 - 354)

TPR_10

TPR_10: Tetratricopeptide repeat (365 - 395)

TPR_10

TPR_10: Tetratricopeptide repeat (450 - 475)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 622 a.a.
Protein Preferred Names Protein Names

kinesin light chain 2

  • KLC 2

KLC2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KLC2 Q9H0B6 YWHAZ Homo sapiens P63104 15324660
Intra
KLC2 Q9H0B6 YWHAZ Homo sapiens P63104 15161933
Intra
KLC2 Q9H0B6 YWHAE Homo sapiens P62258 36931259
Intra
KLC2 Q9H0B6 SFN Homo sapiens P31947
TAP
15778465
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant KLC2 Proteins

Cat. No. Product Name Accession Purity
HY-P76469 KLC2 Protein, Human (sf9, His-GST) Q9H0B6-1 (M1-G622) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Spastic Paraplegia, Optic Atrophy, And Neuropathy
  • Spoan Syndrome

  • SPOAN

  • Spastic Paraplegia, Optic Atropy, And Neuropathy

  • Spastic Paraplegia, Optic Atropy, And Neuropathy Syndrome

  • Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome

Childhood Absence Epilepsy
  • Pyknolepsy

  • Petit Mal Epilepsy

  • Absence Seizures

  • Absence Seizure

  • Petit Mal Seizure

  • Absence Epilepsy, Childhood

  • Pykno-Epilepsy

  • Epilepsy, Absence

  • Absence Epilepsy

  • Pycnolepsy

Specific Learning Disability
  • Specific Learning Difficulty

  • Specific Learning Disorder

Aceruloplasminemia
  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP

Paraplegia
  • Paraplegia, Lower

  • Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
  • DSMA4

  • Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset

  • Distal Spinal Muscular Atrophy Type 4

  • Autosomal Recessive Distal Spinal Muscular Atrophy Type 4

  • Distal Spinal Muscular Atrophy, Autosomal Recessive, 4

  • Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris KLC2 VGNC VGNC:42427
Bos taurus KLC2 VGNC VGNC:30623
Mus musculus KLC2 MGD MGI:107953
Macaca mulatta KLC2 VGNC VGNC:73869
Felis catus KLC2 VGNC VGNC:63127
Rattus norvegicus KLC2 RGD RGD:1307377
Others KLC2 NCBI