KIF4A (kinesin family member 4A)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
24137
Gene name Gene Name - the full gene name approved by the HGNC.
Kinesin family member 4A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIF4A
Synonyms (NCBI Gene) Gene synonyms aliases
KIF4, KIF4G1, MRX100, TMDI, XLID100
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300521 13339 ENSG00000090889
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Motor proteins   MHC class II antigen presentation
Recycling pathway of L1
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental Retardation, X-Linked Intellectual disability, X-linked 100 rs1555949612 N/A
Show/Hide Text Mining Associations (51)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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