KIF22 (kinesin family member 22)

Gene

• Entrez ID: 3835
• Gene name: Kinesin family member 22
• Gene symbol: KIF22
• Synonyms (NCBI Gene): A-328A3.2, KID, KNSL4, OBP, OBP-1, OBP-2, SEMDJL2
• 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 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

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
MIRT038956	hsa-miR-25-5p	CLASH	23622248
MIRT1094243	hsa-miR-300	CLIP-seq
MIRT1094244	hsa-miR-381	CLIP-seq
MIRT1094245	hsa-miR-3941	CLIP-seq
MIRT1094246	hsa-miR-4282	CLIP-seq
MIRT1094247	hsa-miR-466	CLIP-seq
MIRT1094248	hsa-miR-4666-3p	CLIP-seq
MIRT1094249	hsa-miR-4672	CLIP-seq
MIRT1094250	hsa-miR-4699-3p	CLIP-seq
MIRT1094251	hsa-miR-4731-3p	CLIP-seq
MIRT1094252	hsa-miR-4742-3p	CLIP-seq
MIRT1094253	hsa-miR-4789-5p	CLIP-seq
MIRT1094254	hsa-miR-4801	CLIP-seq
MIRT1094255	hsa-miR-602	CLIP-seq
MIRT1094255	hsa-miR-602	CLIP-seq

Gene ontology (GO)

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
GO:0003677	Function	DNA binding	TAS	8599929
GO:0003777	Function	Microtubule motor activity	IBA
GO:0003777	Function	Microtubule motor activity	IEA
GO:0003777	Function	Microtubule motor activity	TAS	8599929
GO:0005515	Function	Protein binding	IPI	18485706
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8599929
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	IBA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0006281	Process	DNA repair	IEA
GO:0007018	Process	Microtubule-based movement	IBA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007062	Process	Sister chromatid cohesion	IMP	15843429
GO:0007080	Process	Mitotic metaphase chromosome alignment	IMP	15843429
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0051310	Process	Metaphase chromosome alignment	IMP	18485706, 25743205
GO:0072686	Component	Mitotic spindle	IDA	18485706

Other IDs

• MIM: 603213
• HGNC: 6391
• e!Ensembl: ENSG00000079616

Protein

• 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

Pathways

KEGG:

Motor proteins
Progesterone-mediated oocyte maturation

Reactome:

MHC class II antigen presentation
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spondyloepimetaphyseal dysplasia with multiple dislocations	Likely pathogenic; Pathogenic	rs2142373200, rs751762149, rs193922920, rs193922921, rs193922922, rs1596854441	RCV001730084 RCV003320027 RCV000023268 RCV000023269 RCV000023270 RCV000023271 RCV002249087	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIF22-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	24065118		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	30204287		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	24065118		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31146170		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	24065118		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30243195		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27406983		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21630023		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20144232	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30427826	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	32187050	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27406983		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22956040		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30204287		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15342413, 19887549, 31657617		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	15342413		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20485131, 30259389, 31529309		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	31372730		★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	16679758, 1951425		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20168351, 23900601		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31842654		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29227800		★☆☆☆☆ Found in Text Mining only
FG syndrome	FG Syndrome	BEFREE	26479501		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	19787218		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	16679758, 1951425		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19139126, 19787218		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28430383, 31243856		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31243856		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	29018324, 3232512		★☆☆☆☆ Found in Text Mining only
Keratitis-Ichthyosis-Deafness Syndrome	Keratitis ichthyosis and deafness syndrome	BEFREE	16679758, 2394858		★☆☆☆☆ Found in Text Mining only
Laryngostenosis	Laryngostenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19887549		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15342413, 20501801, 29382784		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30427826	Stimulate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	19787218		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21630023		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22956040		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18274558, 25176113, 27216188, 30427826		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31529309		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27406983		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15735729, 16356494, 16477640, 20501801, 21504319, 24626146, 27406983, 27689331, 28106046, 30427826		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15342413, 19887549, 31657617		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	30204287		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37944197	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	19935710		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15342413, 17013385, 18274558, 18338751, 19139126, 19729837, 19787218, 20168351, 20485131, 21325287, 21785265, 22244827, 23315976, 26479501, 27171483, 27863373, 30427826, 31657617		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16356494		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	23127570		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	22152678		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23315976, 26479501, 27356624, 28685948		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35578724	Associate	★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	28732030		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18274558, 27216188, 30427826		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	18274558		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30427826	Stimulate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20168351, 23900601		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	30365145, 30720122		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	21325287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senter syndrome	Senter Syndrome	BEFREE	1951425		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	22152678		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25176113		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	26669664		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Spondyloepimetaphyseal Dysplasia With Joint Laxity	BEFREE	22152677, 22152678		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal dysplasia with multiple dislocations	Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	BEFREE	22152677, 23665482, 25256152		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal dysplasia with multiple dislocations	Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	UNIPROT_DG	22152677, 22152678		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal dysplasia with multiple dislocations	Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	ORPHANET_DG	22152677		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal dysplasia with multiple dislocations	Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal dysplasia with multiple dislocations	Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	GENOMICS_ENGLAND_DG	22152678, 22653704		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal dysplasia with multiple dislocations	Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	CLINVAR_DG	25256152		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19139126, 19318473, 19787218, 21362583, 23728900		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32187050	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31529309		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31529309		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27863373, 28106046, 29752686		★☆☆☆☆ Found in Text Mining only