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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	24137
Gene name	Kinesin family member 4A
Gene symbol	KIF4A
Synonyms (NCBI Gene)	KIF4KIF4G1MRX100TMDIXLID100
Chromosome	X
Chromosome location	Xq13.1
Summary	This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associat

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs768681922	->A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1344933833	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555949612	TTTTCCAGCA>ATAATGAAAG	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1569234334	G>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023793	hsa-miR-1-3p	Proteomics	18668040
MIRT025210	hsa-miR-34a-5p	Proteomics	21566225
MIRT025210	hsa-miR-34a-5p	Proteomics	21566225
MIRT029396	hsa-miR-26b-5p	Microarray	19088304
MIRT046771	hsa-miR-222-3p	CLASH	23622248
MIRT732852	hsa-miR-516b-5p	Luciferase reporter assayWestern blottingChIP-seq	32401659
MIRT1094856	hsa-miR-1200	CLIP-seq
MIRT1094857	hsa-miR-1224-5p	CLIP-seq
MIRT1094858	hsa-miR-1236	CLIP-seq
MIRT1094859	hsa-miR-2117	CLIP-seq
MIRT1094860	hsa-miR-223	CLIP-seq
MIRT1094861	hsa-miR-3169	CLIP-seq
MIRT1094862	hsa-miR-4496	CLIP-seq
MIRT1094863	hsa-miR-4502	CLIP-seq
MIRT1094864	hsa-miR-4515	CLIP-seq
MIRT1094865	hsa-miR-4751	CLIP-seq
MIRT1094866	hsa-miR-4768-5p	CLIP-seq
MIRT1094867	hsa-miR-659	CLIP-seq
MIRT1094856	hsa-miR-1200	CLIP-seq
MIRT2025456	hsa-miR-4494	CLIP-seq
MIRT2025457	hsa-miR-4499	CLIP-seq
MIRT1094863	hsa-miR-4502	CLIP-seq
MIRT1094864	hsa-miR-4515	CLIP-seq
MIRT1094856	hsa-miR-1200	CLIP-seq
MIRT1094858	hsa-miR-1236	CLIP-seq
MIRT2256701	hsa-miR-1305	CLIP-seq
MIRT2256702	hsa-miR-199a-3p	CLIP-seq
MIRT2256703	hsa-miR-199b-3p	CLIP-seq
MIRT1094859	hsa-miR-2117	CLIP-seq
MIRT2256704	hsa-miR-3120-3p	CLIP-seq
MIRT2256705	hsa-miR-3129-5p	CLIP-seq
MIRT2256706	hsa-miR-3166	CLIP-seq
MIRT2256707	hsa-miR-335	CLIP-seq
MIRT2256708	hsa-miR-421	CLIP-seq
MIRT1094863	hsa-miR-4502	CLIP-seq
MIRT1094864	hsa-miR-4515	CLIP-seq
MIRT2256709	hsa-miR-451b	CLIP-seq
MIRT2256710	hsa-miR-4709-5p	CLIP-seq
MIRT1094866	hsa-miR-4768-5p	CLIP-seq
MIRT2256711	hsa-miR-936	CLIP-seq
MIRT1094856	hsa-miR-1200	CLIP-seq
MIRT1094863	hsa-miR-4502	CLIP-seq
MIRT1094864	hsa-miR-4515	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000281	Process	Mitotic cytokinesis	IMP	15843429
GO:0003677	Function	DNA binding	IEA
GO:0003777	Function	Microtubule motor activity	IBA
GO:0003777	Function	Microtubule motor activity	IEA
GO:0003777	Function	Microtubule motor activity	TAS	7929562
GO:0005515	Function	Protein binding	IPI	16431929, 28160558
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7929562
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005875	Component	Microtubule associated complex	IBA
GO:0005876	Component	Spindle microtubule	TAS	7929562
GO:0006996	Process	Organelle organization	TAS	7929562
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007052	Process	Mitotic spindle organization	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008089	Process	Anterograde axonal transport	TAS	7929562
GO:0016020	Component	Membrane	HDA	19946888
GO:0016363	Component	Nuclear matrix	IEA
GO:0030496	Component	Midbody	IDA	15166316
GO:0030496	Component	Midbody	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051231	Process	Spindle elongation	IBA
GO:0051256	Process	Mitotic spindle midzone assembly	IEA
GO:0051256	Process	Mitotic spindle midzone assembly	IMP	15843429
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
300521	13339	ENSG00000090889

O95239

Protein name

Chromosome-associated kinesin KIF4A (Chromokinesin-A)

Protein function

Iron-sulfur (Fe-S) cluster binding motor protein that has a role in chromosome segregation during mitosis (PubMed:29848660). Translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition,

PDB

6OYL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00225	Kinesin	15 → 336	Kinesin motor domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in hematopoietic tissues, fetal liver, spleen, thymus and adult thymus and bone marrow. Lower levels are found in heart, testis, kidney, colon and lung. {ECO:0000269|PubMed:10978527}.

Sequence

MKEEVKGIPVRVALRCRPLVPKEISEGCQMCLSFVPGEPQVVVGTDKSFTYDFVFDPSTE
QEEVFNTAVAPLIKGVFKGYNATVLAYGQTGSGKTYSMGGAYTAEQENEPTVGVIPRVIQ
LLFKEIDKKSDFEFTLKVSYLEIYNEEILDLLCPSREKAQINIREDPKEGIKIVGLTEKT
VLVALDTVSCLEQGNNSRTVASTAMNSQSSRSHAIFTISLEQRKKSDKNSSFRSKLHLVD
LAGSERQKKTKAEGDRLKEGININRGLLCLGNVISALGDDKKGGFVPYRDSKLTRLLQDS
LGGNSHTLMIACVSPADSNLEETLNTLRYADRARKIKNKPIVNIDPQTAELNHLKQQVQQ
LQVLLLQAHGGTLPGSITVEPSENLQSLMEKNQSLVEENEKLSRGLSEAAGQTAQMLERI
ILTEQANEKMNAKLEELRQHAACKLDLQKLVETLEDQELKENVEIICNLQQLITQLSDET
VACMAAAIDTAVEQEAQVETSPETSRSSDAFTTQHALRQAQMSKELVELNKALALKEALA
RKMTQNDSQLQPIQYQYQDNIKELELEVINLQKEKEELVLELQTAKKDANQAKLSERRRK
RLQELEGQIADLKKKLNEQSKLLKLKESTERTVSKLNQEIRMMKNQRVQLMRQMKEDAEK
FRQWKQKKDKEVIQLKERDRKRQYELLKLERNFQKQSNVLRRKTEEAAAANKRLKDALQK
QREVADKRKETQSRGMEGTAARVKNWLGNEIEVMVSTEEAKRHLNDLLEDRKILAQDVAQ
LKEKKESGENPPPKLRRRTFSLTEVRGQVSESEDSITKQIESLETEMEFRSAQIADLQQK
LLDAESEDRPKQRWENIATILEAKCALKYLIGELVSSKIQVSKLESSLKQSKTSCADMQK
MLFEERNHFAEIETELQAELVRMEQQHQEKVLYLLSQLQQSQMAEKQLEESVSEKEQQLL
STLKCQDEELEKMREVCEQNQQLLRENEIIKQKLTLLQVASRQKHLPKDTLLSPDSSFEY
VPPKPKPSRVKEKFLEQSMDIEDLKYCSEHSVNEHEDGDGDDDEGDDEEWKPTKLVKVSR
KNIQGCSCKGWCGNKQCGCRKQKSDCGVDCCCDPTKCRNRQQGKDSLGTVERTQDSEGSF
KLEDPTEVTPGLSFFNPVCATPNSKILKEMCDVEQVLSKKTPPAPSPFDLPELKHVATEY
QENKAPGKKKKRALASNTSFFSGCSPIEEEAH

Sequence length

1232

Interactions

View interactions

	KEGG		Reactome
	Motor proteins		MHC class II antigen presentation Recycling pathway of L1 COPI-dependent Golgi-to-ER retrograde traffic Kinesins

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital cerebellar hypoplasia	Likely pathogenic	rs1569234334	RCV001257990
Corpus callosum, agenesis of	Likely pathogenic	rs1569234334	RCV000779661
Hydrocephalus	Likely pathogenic	rs1569234334	RCV000779661
Intellectual disability, X-linked 100	Pathogenic; Likely pathogenic	rs1555949612, rs2519663708, rs2519663637, rs2085807720, rs1569234334	RCV000128843 RCV003320413 RCV003320414 RCV003320415 RCV000779661
Multicystic kidney dysplasia	Likely pathogenic	rs1569234334	RCV000779661
Taurodontism, microdontia, and dens invaginatus	Pathogenic	rs374370199, rs2519648297	RCV003329093 RCV003329094
Ventriculomegaly	Likely pathogenic	rs1569234334	RCV000779661

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
KIF4A-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs5936873, rs369147441, rs2519663600, rs1251243736, rs754571745, rs35473790, rs770853337, rs141822498, rs192686009, rs1018533033, rs1001516122, rs61747653, rs764770221, rs1199457, rs1199429 View all (5 more)	RCV003976120 RCV003395678 RCV003408535 RCV003418776 RCV003901659 RCV003973900 RCV003933960 RCV003943974 RCV003927300 RCV003937260 RCV003957067 RCV003949168 RCV003956747 RCV003976634 RCV003976345 RCV004756561 RCV003970101 RCV003925472 RCV003935801 RCV004756113
Melanoma	Likely benign	rs141822498	RCV005933265
Nonpapillary renal cell carcinoma	Uncertain significance	rs768717763, rs371136649	RCV005911092 RCV005937536
Thyroid cancer, nonmedullary, 1	Likely benign	rs141822498	RCV005933264
Uterine corpus endometrial carcinoma	Likely benign	rs141822498	RCV005933266

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	29204984, 35810236, 36499051, 37752167
Adenocarcinoma of Lung	Stimulate	33398330
Aneuploidy	Inhibit	22130187
Aneuploidy	Associate	32057913
Brain Diseases	Associate	34346154
Brain Neoplasms	Associate	34008756
Breast Neoplasms	Stimulate	24391143
Breast Neoplasms	Associate	25377255, 30593585, 32408908, 33959662, 35608059, 39684488
Cakut	Associate	34346154
Carcinogenesis	Associate	20334636
Carcinoma Hepatocellular	Associate	28646197, 28901309, 29977454, 31746405, 32703154
Carcinoma Hepatocellular	Stimulate	29396392
Carcinoma Non Small Cell Lung	Associate	36098705
Carcinoma Ovarian Epithelial	Associate	34143800
Carcinoma Renal Cell	Associate	28260099
Carcinoma Squamous Cell	Associate	36499051
Cholangiocarcinoma	Associate	34032761
Colorectal Neoplasms	Associate	29706624, 35882623
Congenital Abnormalities	Inhibit	22130187
Congenital Abnormalities	Associate	34346154
Developmental Disabilities	Associate	33982443, 34346154
Ehlers Danlos syndrome type 1	Associate	30716086
Endometrial Neoplasms	Associate	32401659, 33859719, 35126794
Epilepsy	Associate	34346154
Esophageal Squamous Cell Carcinoma	Associate	33350074, 34775374, 36046597
Eye Abnormalities	Associate	34346154
Glioblastoma	Associate	30872592
Glioma	Stimulate	36030248
Heart Defects Congenital	Associate	33982443
Hydrocephalus	Associate	34346154
Intellectual Disability	Associate	33982443, 34346154
Language Development Disorders	Associate	33982443
Lung Neoplasms	Associate	29204984
Lymphatic Metastasis	Stimulate	36046597
Lymphedema	Associate	34346154
Lymphoma Non Hodgkin	Stimulate	30872592
Mental Disorders	Associate	33982443
Mouth Neoplasms	Associate	24386490
Neoplasm Metastasis	Associate	28281966, 29706624, 32408908
Neoplasm Metastasis	Stimulate	36098705
Neoplasms	Associate	20334636, 22130187, 24074379, 24391143, 28646197, 33398330, 33846765, 34008756, 34032761, 34034774, 35882623, 36098705, 37039264
Neoplasms	Stimulate	29396392, 35126794
Osteosarcoma	Inhibit	36849972
Osteosarcoma	Associate	39324133
Ovarian Neoplasms	Associate	31987036, 33261630, 34013367, 34034774
Sarcoma Ewing	Associate	35126643
Squamous Cell Carcinoma of Head and Neck	Associate	24386490, 28533507
Thakker Donnai syndrome	Associate	33982443
Tissue Adhesions	Associate	40217245
Urinary Bladder Neoplasms	Associate	33846765, 37039264
Urogenital Abnormalities	Associate	34346154

KIF4A (kinesin family member 4A)