KIF22_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
KIF22
, KID, KNSL4
Protein names and data:
KIF22_HUMAN
, Kinesin-like protein KIF22
, Kinesin-like DNA-binding protein; Kinesin-like protein 4
Lenght: 665 a.a.
Mass: 73262 Da
fasta formatted sequence
Function:
Kinesin family that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA.
Disease:
( OMIM:
603213
603546
)
Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]: A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Nucleus. Cytoplasm, cytoskeleton (Probable).
Tissue specificity:
Expressed in bone, cartilage, joint capsule, ligament, skin, and primary cultured chondrocytes.
Genetic variants
148 - 148
P -> L (in SEMDJL2; dbSNP:rs193922921). VAR_067345
193922921
148 - 148
P -> S (in SEMDJL2; dbSNP:rs193922920). VAR_067346
193922920
149 - 149
R -> L (in SEMDJL2). VAR_067347
149 - 149
R -> Q (in SEMDJL2; dbSNP:rs193922922). VAR_067348
193922922
232 - 232
R -> Q. VAR_067349
Database cross-references
UniProt:
Q14807
Ensembl:
ENST00000160827
Ensembl:
ENST00000400751
Ensembl:
ENST00000561482
MIM:
603213
MIM:
603546
neXtProt:
NX_Q14807
Antibodypedia:
Q14807
(may not find the protein thus also not any antibody)
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