1. Gene
  2. KLC2 - kinesin light chain 2 Gene

KLC2 - kinesin light chain 2 Gene

Homo sapiens
Gene ID: 64837 | Gene type: protein coding

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

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)

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  • 622 a.a.
Protein Preferred Names Protein Names

kinesin light chain 2

KLC 2

Recombinant KLC2 Proteins

Cat. No. Product Name Accession Purity
HY-P76469 KLC2 Protein, Human (sf9, His-GST) Q9H0B6-1 (M1-G622) ≥95%

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