KIF22 (kinesin family member 22)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3835
Gene name Gene Name - the full gene name approved by the HGNC.
Kinesin family member 22
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIF22
Synonyms (NCBI Gene) Gene synonyms aliases
A-328A3.2, KID, KNSL4, OBP, OBP-1, OBP-2, SEMDJL2
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
miRTarBase ID miRNA Experiments Reference
MIRT005706 hsa-miR-146a-5p Western blot 19944095
MIRT016267 hsa-miR-193b-3p Microarray 20304954
MIRT020596 hsa-miR-155-5p Proteomics 18668040
MIRT050414 hsa-miR-23a-3p CLASH 23622248
MIRT045570 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(33)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000278 Process Mitotic cell cycle TAS 8599929
GO:0000776 Component Kinetochore TAS 8599929
GO:0000785 Component Chromatin IEA
GO:0003677 Function DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603213 6391 ENSG00000079616
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00225 Kinesin 49 → 368 Kinesin motor domain Domain
PF12836 HHH_3 595 → 650 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in bone, cartilage, joint capsule, ligament, skin, and primary cultured chondrocytes. {ECO:0000269|PubMed:22152677}.
Sequence 
MAAGGSTQQRRREMAAASAAAISGAGRCRLSKIGATRRPPPARVRVAVRLRPFVDGTAGA
SDPPCVRGMDSCSLEIANWRNHQETLKYQFDAFYGERSTQQDIYAGSVQPILRHLLEGQN
ASVLAYGPTGAGKTHTMLGSPEQPGVIPRALMDLLQLTREEGAEGRPWALSVTMSYLEIY
QEKVLDLLDPASGDLVIREDCRGNILIPGLSQKPISSFADFERHFLPASRNRTVGATRLN
QRSSRSHAVLLVKVDQRERLAPFRQREGKLYLIDLAGSEDNRRTGNKGLRLKESGAINTS
LFVLGKVVDALNQGLPRVPYRDSKLTRLLQDSLGGSAHSILIANIAPERRFYLDTVSALN
FAARSKEVINRPFTNESLQPHALGPVKLSQKELLGPPEAKRARGPEEEEIGSPEPMAAPA
SASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQGAPLLSTPKRERMVLMKTVEEKDL
EIERLKTKQKELEAKMLAQKAEEKENHCPTMLRPLSHRTVTGAKPLKKAVVMPLQLIQEQ
AASPNAEIHILKNKGRKRKLESLDALEPEEKAEDCWELQISPELLAHGRQKILDLLNEGS
ARDLRSLQRIGPKKAQLIVGWRELHGPFSQVEDLERVEGITGKQMESFLKANILGLAAGQ
RCGAS
Sequence length 665
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Motor proteins
Progesterone-mediated oocyte maturation 		  MHC class II antigen presentation
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations spondyloepimetaphyseal dysplasia with multiple dislocations rs193922920, rs193922921, rs193922922, rs1596854441 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 20144232
Carcinogenesis Associate 30427826
Carcinoma Associate 32187050
HEM dysplasia Associate 26669664
Joint Dislocations Associate 26669664
Joint Instability Associate 26669664
Lymphatic Metastasis Stimulate 30427826
Melanoma Associate 37944197
Neoplasms Associate 20144232, 30427826
Pancreatic Neoplasms Associate 35578724