KIF22 (kinesin family member 22)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3835
Gene name Kinesin family member 22
Gene symbol KIF22
Synonyms (NCBI Gene)
A-328A3.2KIDKNSL4OBPOBP-1OBP-2SEMDJL2
Chromosome 16
Chromosome location 16p11.2
Summary 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.
4
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.
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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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603213 6391 ENSG00000079616
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
See cases Pathogenic rs193922922 RCV003231108
Spondyloepimetaphyseal dysplasia with multiple dislocations Likely pathogenic; Pathogenic rs2142373200, rs751762149, rs193922920, rs193922921, rs193922922, rs1596854441 RCV001730084
RCV003320027
RCV000023268
RCV000023269
RCV000023270
RCV000023271
RCV002249087
Show/Hide Unknown Diseases (13)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs76507981, rs794727510 RCV005914631
RCV005868028
Colorectal cancer Benign rs552303501 RCV005869227
Familial cancer of breast Benign rs794727510 RCV005868026
Gastric cancer Benign rs201550112, rs794727510 RCV005868001
RCV005868031
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease 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