KLC2 - kinesin light chain 2 Gene
Species: Homo sapiens
About KLC2
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 | Referencias | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14985359 | GOA |
| Biological Process GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| involved in lysosome localization |
IMP
IMP: Inferred from mutant phenotype
|
22172677 | GOA |
KLC2 Protein Structure
Rab5-bind: Rabaptin-like protein (69 - 239)
TPR_2: Tetratricopeptide repeat (243 - 270)
TPR_12: Tetratricopeptide repeat (278 - 354)
TPR_10: Tetratricopeptide repeat (365 - 395)
TPR_10: Tetratricopeptide repeat (450 - 475)
- 0
- 100
- 200
- 300
- 400
- 500
- 622 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
kinesin light chain 2 |
|
KLC2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Referencias |
|---|---|---|---|---|---|---|---|
|
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 | 15778465 |
Recombinant KLC2 Proteins
| Referencia número | Nombre del producto | Accession | Pureza |
|---|---|---|---|
| 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 |
|
|
| Childhood Absence Epilepsy |
|
|
| Specific Learning Disability |
|
|
| Aceruloplasminemia |
|
|
| Paraplegia |
|
|
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
|
| Hereditary Spastic Paraplegia |
|
|
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 |