KIF4A (kinesin family member 4A)

Gene

• Entrez ID: 24137
• Gene name: Kinesin family member 4A
• Gene symbol: KIF4A
• Synonyms (NCBI Gene): KIF4, KIF4G1, MRX100, TMDI, XLID100
• 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

SNPs

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

miRNA

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 assay, Western blotting, ChIP-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

Gene ontology (GO)

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

Other IDs

• MIM: 300521
• HGNC: 13339
• e!Ensembl: ENSG00000090889

Protein

• UniProt ID: 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

Pathways

KEGG:

Motor proteins

Reactome:

MHC class II antigen presentation
Recycling pathway of L1
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
Congenital cerebellar hypoplasia	Likely pathogenic	rs1569234334	RCV001257990	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corpus callosum, agenesis of	Likely pathogenic	rs1569234334	RCV000779661	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Likely pathogenic	rs1569234334	RCV000779661	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 100	Pathogenic; Likely pathogenic	rs1555949612, rs2519663708, rs2519663637, rs2085807720, rs1569234334	RCV000128843 RCV003320413 RCV003320414 RCV003320415 RCV000779661	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multicystic kidney dysplasia	Likely pathogenic	rs1569234334	RCV000779661	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Taurodontism, microdontia, and dens invaginatus	Pathogenic	rs374370199, rs2519648297	RCV003329093 RCV003329094	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventriculomegaly	Likely pathogenic	rs1569234334	RCV000779661	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT CONGENITAL ANOMALIES	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 100	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIF4A-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29204984		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	22130187	Inhibit	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	32057913	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34346154	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	34008756	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30127624, 30593585		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24391143	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25377255, 30593585, 32408908, 33959662, 35608059, 39684488	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	34346154	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20334636	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28646197, 28901309, 29977454, 31746405, 32703154	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29396392	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18006763, 25998931, 28160558, 29204984		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34143800	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28260099	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36499051	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17243165		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17243165		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34032761	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29434924, 29706624		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29706624, 35882623	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22130187	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	34346154	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33982443, 34346154	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32401659, 33859719, 35126794	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	31788082		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24812067, 31085274		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34346154	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33350074, 34775374, 36046597	Associate	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	34346154	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30872592		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30872592	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30872592		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36030248	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33982443	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	34346154	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	24812067		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	24812067		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33982443, 34346154	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	33982443	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	24386490		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25998931, 28646197, 29396392, 29977454, 31072351, 31593490		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29204984	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36046597	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	34346154	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30127624, 30593585		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18006763, 25998931, 28160558, 29204984		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	24386490		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29725481, 31796514		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18006763, 29434924, 30081192		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17243165		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	30991738		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 100	Mental Retardation, X-Linked	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 100	Mental Retardation, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	24386490	Associate	★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16890532, 18006763, 28646197, 30127624, 31796514		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18006763		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36849972	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	39324133	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31987036, 33261630, 34013367, 34034774	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29725481, 31796514		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	9168136		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35126643	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24386490, 28533507	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30744636		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33846765, 37039264	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	34346154	Associate	★☆☆☆☆ Found in Text Mining only