Gene Gene information from NCBI Gene database.
Entrez ID 9928
Gene name Kinesin family member 14
Gene symbol KIF14
Synonyms (NCBI Gene)
MCPH20MKS12
Chromosome 1
Chromosome location 1q32.1
Summary This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs786201012 CT>- Pathogenic Coding sequence variant, frameshift variant
rs786201013 T>A Pathogenic Coding sequence variant, stop gained
rs981349334 C>A Pathogenic Coding sequence variant, missense variant
rs1553253022 T>- Pathogenic Frameshift variant, coding sequence variant
rs1553254322 C>T Pathogenic Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
360
miRTarBase ID miRNA Experiments Reference
MIRT016143 hsa-miR-615-3p Sequencing 20371350
MIRT021036 hsa-miR-155-5p Proteomics 18668040
MIRT024477 hsa-miR-215-5p Microarray 19074876
MIRT026918 hsa-miR-192-5p Microarray 19074876
MIRT032038 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
78
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001558 Process Regulation of cell growth IMP 24854087
GO:0003777 Function Microtubule motor activity IBA
GO:0003777 Function Microtubule motor activity IEA
GO:0005515 Function Protein binding IPI 16431929, 16820410, 20309963
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611279 19181 ENSG00000118193
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15058
Protein name Kinesin-like protein KIF14
Protein function Microtubule motor protein that binds to microtubules with high affinity through each tubulin heterodimer and has an ATPase activity (By similarity). Plays a role in many processes like cell division, cytokinesis and also in cell proliferation an
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00225 Kinesin 364 701 Kinesin motor domain Domain
PF16183 Kinesin_assoc 743 824 Kinesin-associated Family
PF00498 FHA 825 891 FHA domain Family
Sequence
MSLHSTHNRNNSGDILDIPSSQNSSSLNALTHSSRLKLHLKSDMSECENDDPLLRSAGKV
RDINRTYVISASRKTADMPLTPNPVGRLALQRRTTRNKESSLLVSELEDTTEKTAETRLT
LQRRAKTDSAEKWKTAEIDSVKMTLNVGGETENNGVSKESRTNVRIVNNAKNSFVASSVP
LDEDPQVIEMMADKKYKETFSAPSRANENVALKYSSNRPPIASLSQTEVVRSGHLTTKPT
QSKLDIKVLGTGNLYHRSIGKEIAKTSNKFGSLEKRTPTKCTTEHKLTTKCSLPQLKSPA
PSILKNRMSNLQVKQRPKSSFLANKQERSAENTILPEEETVVQNTSAGKDPLKVENSQVT
VAVRVRPFTKREKIEKASQVVFMSGKEITVEHPDTKQVYNFIYDVSFWSFDECHPHYASQ
TTVYEKLAAPLLERAFEGFNTCLFAYGQTGSGKSYTMMGFSEEPGIIPRFCEDLFSQVAR
KQTQEVSYHIEMSFFEVYNEKIHDLLVCKDENGQRKQPLRVREHPVYGPYVEALSMNIVS
SYADIQSWLELGNKQRATAATGMNDKSSRSHSVFTLVMTQTKTEFVEGEEHDHRITSRIN
LIDLAGSERCSTAHTNGDRLKEGVSINKSLLTLGKVISALSEQANQRSVFIPYRESVLTW
LLKESLGGNSKTAMIATISPAASNIEETLSTLRYANQARLI
VNIAKVNEDMNAKLIRELK
AEIAKLKAAQRNSRNIDPERYRLCRQEITSLRMKLHQQERDMAEMQRVWKEKFEQAEKRK
LQETKELQKAGIMFQMDNHLPNLVNLNEDPQLSEMLLYMIKEGT
TTVGKYKPNSSHDIQL
SGVLIADDHCTIKNFGGTVSIIPVGEAKTYVNGKHILEITVLRHGDRVILG
GDHYFRFNH
PVEVQKGKRPSGRDTPISEGPKDFEFAKNELLMAQRSQLEAEIKEAQLKAKEEMMQGIQI
AKEMAQQELSSQKAAYESKIKALEAELREESQRKKMQEINNQKANHKIEELEKAKQHLEQ
EIYVNKKRLEMETLATKQALEDHSIRHARILEALETEKQKIAKEVQILQQNRNNRDKTFT
VQTTWSSMKLSMMIQEANAISSKLKTYYVFGRHDISDKSSSDTSIRVRNLKLGISTFWSL
EKFESKLAAMKELYESNGSNRGEDAFCDPEDEWEPDITDAPVSSLSRRRSRSLMKNRRIS
GCLHDIQVHPIKNLHSSHSSGLMDKSSTIYSNSAESFLPGICKELIGSSLDFFGQSYDEE
RTIADSLINSFLKIYNGLFAISKAHEEQDEESQDNLFSSDRAIQSLTIQTACAFEQLVVL
MKHWLSDLLPCTNIARLEDELRQEVKKLGGYLQLFLQGCCLDISSMIKEAQKNAIQIVQQ
AVKYVGQLAVLKGSKLHFLENGNNKAASVQEEFMDAVCDGVGLGMKILLDSGLEKAKELQ
HELFRQCTKNEVTKEMKTNAMGLIRSLENIFAESKIKSFRRQVQEENFEYQDFKRMVNRA
PEFLKLKHCLEKAIEIIISALKGCHSDINLLQTCVESIRNLASDFYSDFSVPSTSVGSYE
SRVTHIVHQELESLAKSLLFCFESEESPDLLKPWETYNQNTKEEHQQSKSSGIDGSKNKG
VPKRVYELHGSSPAVSSEECTPSRIQWV
Sequence length 1648
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Motor proteins   RHO GTPases activate CIT
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Clear cell carcinoma of kidney Likely pathogenic rs151249558 RCV005925488
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome and related disorders Likely pathogenic rs151249558, rs2527664861, rs764882468, rs2527565495, rs981349334 RCV003155454
RCV002302543
RCV003123487
RCV003123488
RCV005418240
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KIF14-related disorder Likely pathogenic rs151249558 RCV003408047
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Pathogenic; Likely pathogenic rs786201012, rs786201013, rs1660016633 RCV000162210
RCV000162211
RCV001283756
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 17545527
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 23626713
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23626713
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 15897902, 28504687
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 26536004
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita HPO_DG
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 26536004
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 26536004 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only