KIF22 (kinesin family member 22)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3835 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Kinesin family member 22 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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KIF22 |
SynonymsGene synonyms aliases
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A-328A3.2, KID, KNSL4, OBP, OBP-1, OBP-2, SEMDJL2 |
ChromosomeChromosome number
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16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16p11.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this pr |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs193922920 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs193922921 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs193922922 |
G>A,T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs374331057 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q14807 |
Protein name |
Kinesin-like protein KIF22 (Kinesin-like DNA-binding protein) (Kinesin-like protein 4) |
Protein function |
Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA (By similarity). Plays a role in congression of laterally attached chromosomes in NDC80-dep |
PDB |
2EDU
,
6NJE
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00225 |
Kinesin |
49 → 368 |
Kinesin motor domain |
Domain |
PF12836 |
HHH_3 |
595 → 650 |
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Domain |
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Sequence |
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Sequence length |
665 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Arthritis |
Degenerative polyarthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
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Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Macrocephaly |
Macrocephaly |
rs786204854, rs764333096, rs1557739557 |
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Osteochondrodysplasia |
Osteochondrodysplasias |
rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061 |
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Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
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Skeletal dysplasia |
Skeletal dysplasia |
rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 |
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Spondyloepimetaphyseal dysplasia |
Spondyloepimetaphyseal disorder |
rs121909497, rs121909499, rs879255602, rs878853267, rs779218846, rs878852980, rs878852981, rs1325869434, rs1565256477, rs1597675888, rs1597675890, rs1597676540, rs369033671 |
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Spondyloepimetaphyseal dysplasia with multiple dislocations |
Spondyloepimetaphyseal dysplasia with multiple dislocations |
rs193922920, rs193922921, rs193922922, rs1596854441 |
22152677, 22152678, 22653704, 25256152 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Dislocated radial head |
Congenital dislocation of radial head |
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Developmental dysplasia of the hip |
Congenital Dysplasia Of The Hip |
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Dwarfism |
Dwarfism |
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Frontal bossing |
Frontal bossing |
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Laryngostenosis |
Laryngostenosis |
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Micromelia |
Micromelia |
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Nail diseases |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
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Nail dysplasia |
Nail dysplasia |
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Spina bifida |
Spina Bifida |
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