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Aliases for KIF22 Gene

Aliases for KIF22 Gene

  • Kinesin Family Member 22 2 3 5
  • Kinesin-Like Protein 4 3 4
  • KNSL4 3 4
  • KID 3 4
  • Origin Of Plasmid DNA Replication-Binding Protein 3
  • Kinesin-Like DNA-Binding Protein Pseudogene 3
  • Kinesin-Like DNA-Binding Protein 4
  • Kinesin-Like Protein KIF22 3
  • OriP Binding Protein 3
  • Kinesin-Like 4 2
  • A-328A3.2 3
  • SEMDJL2 3
  • OBP-1 3
  • OBP-2 3
  • OBP 3

External Ids for KIF22 Gene

Previous HGNC Symbols for KIF22 Gene

  • KNSL4

Previous GeneCards Identifiers for KIF22 Gene

  • GC16P030125
  • GC16P029800
  • GC16P029839
  • GC16P029709
  • GC16P027462

Summaries for KIF22 Gene

Entrez Gene Summary for KIF22 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 protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for KIF22 Gene

KIF22 (Kinesin Family Member 22) is a Protein Coding gene. Diseases associated with KIF22 include Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 and Spondyloepimetaphyseal Dysplasia With Multiple Dislocations. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Golgi-to-ER retrograde transport. GO annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF4A.

UniProtKB/Swiss-Prot for KIF22 Gene

  • 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-depleted cells (PubMed:25743205).

Gene Wiki entry for KIF22 Gene

Additional gene information for KIF22 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF22 Gene

Genomics for KIF22 Gene

Regulatory Elements for KIF22 Gene

Enhancers for KIF22 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H029803 1.5 ENCODE dbSUPER 17.5 +18.4 18382 10.3 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 ZNF785 SH2B1 SRCAP ATXN2L NPIPB12 ZNF764 INO80E RNF40 ENSG00000260853 SPNS1
GH16H030367 2 FANTOM5 Ensembl ENCODE dbSUPER 11 +586.0 585971 17 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 SETD1A SRCAP INO80E NPIPB12 SMG1P5 SMG1P2 ZNF764 RNF40 ZNF747 ENSG00000260304
GH16H030052 1.4 ENCODE dbSUPER 11 +264.1 264143 3.1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ZC3H11A SETD1A SRCAP INO80E NPIPB12 ZNF747 ZNF764 SMG1P5 SMG1P2 NPIPB13 BCL7C
GH16H030598 1.4 Ensembl ENCODE 11 +808.2 808240 0.6 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF302 ZNF143 SP3 SRCAP INO80E ENSG00000260267 FBRS SETD1A ZNF764 PRR14 RNF40 SMG1P5 ENSG00000260304
GH16H030608 1.2 ENCODE 11 +819.9 819941 2.4 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ENSG00000260114 TAOK2 ZNF785 RNF40 ZNF646 FBRS NDUFA3P6 LINC02190 VN1R65P CA5AP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIF22 on UCSC Golden Path with GeneCards custom track

Promoters for KIF22 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085108 938 1601 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

Genomic Locations for KIF22 Gene

Genomic Locations for KIF22 Gene
chr16:29,790,062-29,805,385
(GRCh38/hg38)
Size:
15,324 bases
Orientation:
Plus strand
chr16:29,802,040-29,816,706
(GRCh37/hg19)

Genomic View for KIF22 Gene

Genes around KIF22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF22 Gene

Proteins for KIF22 Gene

  • Protein details for KIF22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14807-KIF22_HUMAN
    Recommended name:
    Kinesin-like protein KIF22
    Protein Accession:
    Q14807
    Secondary Accessions:
    • B2R5M0
    • B7Z265
    • O60845
    • O94814
    • Q53F58
    • Q9BT46

    Protein attributes for KIF22 Gene

    Size:
    665 amino acids
    Molecular mass:
    73262 Da
    Quaternary structure:
    • Interacts with FAM83D (PubMed:18485706). Interacts with SIAH1 (PubMed:11146551).
    SequenceCaution:
    • Sequence=AAC08709.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW80007.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIF22 Gene

    Alternative splice isoforms for KIF22 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIF22 Gene

Post-translational modifications for KIF22 Gene

  • Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation.
  • Ubiquitination at posLast=133133, isoforms=2213, isoforms=2253, isoforms=2269, posLast=465465, isoforms=2591, and posLast=643643
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIF22 Gene

Domains & Families for KIF22 Gene

Gene Families for KIF22 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q14807

UniProtKB/Swiss-Prot:

KIF22_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
genes like me logo Genes that share domains with KIF22: view

Function for KIF22 Gene

Molecular function for KIF22 Gene

UniProtKB/Swiss-Prot 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-depleted cells (PubMed:25743205).

Phenotypes From GWAS Catalog for KIF22 Gene

Gene Ontology (GO) - Molecular Function for KIF22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IBA,IEA --
GO:0005515 protein binding IPI 18485706
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with KIF22: view
genes like me logo Genes that share phenotypes with KIF22: view

Human Phenotype Ontology for KIF22 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF22 Gene

MGI Knock Outs for KIF22:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KIF22 Gene

Localization for KIF22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF22 Gene

Nucleus. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIF22 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 2
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIF22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore TAS 8599929
GO:0000785 chromatin IEA --
GO:0005634 nucleus TAS 8599929
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with KIF22: view

Pathways & Interactions for KIF22 Gene

genes like me logo Genes that share pathways with KIF22: view

SIGNOR curated interactions for KIF22 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KIF22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS 8599929
GO:0006281 DNA repair IEA --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0007018 microtubule-based movement TAS,IEA --
GO:0007062 sister chromatid cohesion IMP 15843429
genes like me logo Genes that share ontologies with KIF22: view

Drugs & Compounds for KIF22 Gene

(3) Drugs for KIF22 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
GSK-923295 Investigational Pharma CENP-E inhibitor,small-molecule, Kinesin protein inhibitors 0
MPI-0479605 Pharma Mps1 inhibitor,selective and ATP competitive 0

(2) ApexBio Compounds for KIF22 Gene

Compound Action Cas Number
GSK-923295 CENP-E inhibitor,small-molecule 1088965-37-0
MPI-0479605 Mps1 inhibitor,selective and ATP competitive 1246529-32-7
genes like me logo Genes that share compounds with KIF22: view

Drug Products

Transcripts for KIF22 Gene

Unigene Clusters for KIF22 Gene

Kinesin family member 22:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIF22 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - - - -
SP2: -
SP3:
SP4: - -
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for KIF22 Gene

GeneLoc Exon Structure for
KIF22
ECgene alternative splicing isoforms for
KIF22

Expression for KIF22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIF22 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KIF22 Gene

This gene is overexpressed in Cardia (28.4), Prostate (11.8), Lymph node (8.1), and Oral epithelium (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KIF22 Gene



NURSA nuclear receptor signaling pathways regulating expression of KIF22 Gene:

KIF22

SOURCE GeneReport for Unigene cluster for KIF22 Gene:

Hs.612151

mRNA Expression by UniProt/SwissProt for KIF22 Gene:

Q14807-KIF22_HUMAN
Tissue specificity: Expressed in bone, cartilage, joint capsule, ligament, skin, and primary cultured chondrocytes.

Evidence on tissue expression from TISSUES for KIF22 Gene

  • Nervous system(4.9)
  • Lung(4.4)
  • Adrenal gland(4.2)
  • Kidney(4.2)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF22 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with KIF22: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for KIF22 Gene

Orthologs for KIF22 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KIF22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIF22 33 34
  • 99.4 (n)
cow
(Bos Taurus)
Mammalia KIF22 33 34
  • 89.37 (n)
dog
(Canis familiaris)
Mammalia KIF22 33 34
  • 88.96 (n)
rat
(Rattus norvegicus)
Mammalia Kif22 33
  • 82.8 (n)
mouse
(Mus musculus)
Mammalia Kif22 33 16 34
  • 82.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIF22 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIF22 34
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIF22 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif22 33
  • 59.84 (n)
MGC75575 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.512 33
zebrafish
(Danio rerio)
Actinopterygii kif22 33 34
  • 58.53 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KIP3 34
  • 20 (a)
OneToMany
Species where no ortholog for KIF22 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIF22 Gene

ENSEMBL:
Gene Tree for KIF22 (if available)
TreeFam:
Gene Tree for KIF22 (if available)

Paralogs for KIF22 Gene

Variants for KIF22 Gene

Sequence variations from dbSNP and Humsavar for KIF22 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs193922920 Pathogenic, Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546] 29,798,640(+) TGATC(C/T)CGCGG nc-transcript-variant, reference, missense
rs193922921 Pathogenic, Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546] 29,798,641(+) GATCC(C/T)GCGGG nc-transcript-variant, reference, missense
rs193922922 Pathogenic, Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546], Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546] 29,798,644(+) CCCGC(A/G/T)GGCTC nc-transcript-variant, reference, missense
rs146561986 Likely benign 29,804,916(+) TACTG(A/C/G)ATCTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs374699250 Likely benign 29,790,771(+) GCGGG(A/C/G/T)GGCTC nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for KIF22 Gene

Variant ID Type Subtype PubMed ID
nsv953800 CNV deletion 24416366
nsv833186 CNV loss 17160897
dgv34n68 CNV loss 17160897

Variation tolerance for KIF22 Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.25; 52.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIF22 Gene

Human Gene Mutation Database (HGMD)
KIF22
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF22 Gene

Disorders for KIF22 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KIF22 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondyloepimetaphyseal dysplasia with joint laxity, type 2
  • spondyloepimetaphyseal dysplasia with joint laxity type 2
spondyloepimetaphyseal dysplasia with multiple dislocations
  • spondyloepimetaphyseal dysplasia with multiple dislocations hall type
spondyloepimetaphyseal dysplasia
  • spondyloepimetaphyseal dysplasia matrilin-3 related
scoliosis
- elite association - COSMIC cancer census association via MalaCards
Search KIF22 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF22_HUMAN
  • 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. {ECO:0000269 PubMed:22152677, ECO:0000269 PubMed:22152678}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KIF22

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIF22
genes like me logo Genes that share disorders with KIF22: view

No data available for Genatlas for KIF22 Gene

Publications for KIF22 Gene

  1. Kid, a novel kinesin-like DNA binding protein, is localized to chromosomes and the mitotic spindle. (PMID: 8599929) Tokai N … Yamamota T (The EMBO journal 1996) 2 3 4 22 60
  2. SIAH-1 interacts with alpha-tubulin and degrades the kinesin Kid by the proteasome pathway during mitosis. (PMID: 11146551) Germani A … Calvo F (Oncogene 2000) 3 4 22 60
  3. Human genes for KNSL4 and MAZ are located close to one another on chromosome 16p11.2. (PMID: 9790757) Song J … Yokoyama KK (Genomics 1998) 3 4 22 60
  4. Chromokinesin Kid and kinetochore kinesin CENP-E differentially support chromosome congression without end-on attachment to microtubules. (PMID: 25743205) Iemura K … Tanaka K (Nature communications 2015) 3 4 60
  5. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. (PMID: 22152678) Boyden ED … Bonafé L (American journal of human genetics 2011) 3 4 60

Products for KIF22 Gene

Sources for KIF22 Gene

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