Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	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

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

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
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

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
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:0003777	Function	Microtubule motor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	18485706
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	TAS	8599929
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005871	Component	Kinesin complex	IBA	21873635
GO:0005874	Component	Microtubule	IBA	21873635
GO:0006281	Process	DNA repair	IEA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS
GO:0007018	Process	Microtubule-based movement	IBA	21873635
GO:0007018	Process	Microtubule-based movement	TAS
GO:0007062	Process	Sister chromatid cohesion	IMP	15843429
GO:0007080	Process	Mitotic metaphase plate congression	IMP	15843429
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0016607	Component	Nuclear speck	IDA
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0051310	Process	Metaphase plate congression	IMP	18485706, 25743205
GO:0072686	Component	Mitotic spindle	IDA	18485706

MIM	HGNC	e!Ensembl
603213	6391	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

Interactions

View interactions

	KEGG		Reactome
	Motor proteins Progesterone-mediated oocyte maturation		MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic Kinesins

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)
Spondyloepimetaphyseal dysplasia	Spondyloepimetaphyseal disorder	rs121909497, rs121909499, rs879255602, rs878853267, rs779218846, rs878852980, rs878852981, rs1325869434, rs1565256477, rs1597675888, rs1597675890, rs1597676540, rs369033671
Spondyloepimetaphyseal dysplasia with multiple dislocations	Spondyloepimetaphyseal dysplasia with multiple dislocations	rs193922920, rs193922921, rs193922922, rs1596854441	22152677, 22152678, 22653704, 25256152

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Alzheimer disease	Alzheimer disease			GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Prostatic Neoplasms	Stimulate	30427826
Spondyloepimetaphyseal Dysplasia X Linked	Associate	26669664
Stomach Neoplasms	Associate	32187050

KIF22 (kinesin family member 22)