KIF27

gene
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Also known as DKFZp434D0917

Summary

KIF27 (kinesin family member 27, HGNC:18632) is a protein-coding gene on chromosome 9q21.32, encoding Kinesin-like protein KIF27 (Q86VH2). Plays an essential role in motile ciliogenesis.

This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9.

Source: NCBI Gene 55582 — RefSeq curated summary.

At a glance

  • GWAS associations: 8
  • Clinical variants (ClinVar): 226 total
  • Druggable target: yes
  • MANE Select transcript: NM_017576

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18632
Approved symbolKIF27
Namekinesin family member 27
Location9q21.32
Locus typegene with protein product
StatusApproved
AliasesDKFZp434D0917
Ensembl geneENSG00000165115
Ensembl biotypeprotein_coding
OMIM611253
Entrez55582

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 nonsense_mediated_decay

ENST00000297814, ENST00000334204, ENST00000376347, ENST00000413982, ENST00000495062, ENST00000915947

RefSeq mRNA: 6 — MANE Select: NM_017576 NM_001271927, NM_001271928, NM_001354069, NM_001354070, NM_001354071, NM_017576

CCDS: CCDS65071, CCDS65072, CCDS6665

Canonical transcript exons

ENST00000297814 — 18 exons

ExonStartEnd
ENSE000010904818388029783880494
ENSE000010904838385915683859371
ENSE000010904868388848983888592
ENSE000013376258392137183921432
ENSE000015984768388908483889253
ENSE000016178668386768483867860
ENSE000016571898389129583891501
ENSE000016753808385362983853835
ENSE000017180238390845283908652
ENSE000017257708384223783842401
ENSE000017351168388381383884018
ENSE000017467328390306083904018
ENSE000017502788385009983850297
ENSE000017519758388704183887196
ENSE000017624628387051983870632
ENSE000022371358391529483915678
ENSE000036354578389966183899804
ENSE000038470338383409983837485

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 89.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.9107 / max 105.4209, expressed in 1669 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1011545.41491633
1011550.4959246

Top tissues by expression

138 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right uterine tubeUBERON:000130289.17gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047388.94gold quality
testisUBERON:000047387.22gold quality
calcaneal tendonUBERON:000370187.04gold quality
left testisUBERON:000453386.90gold quality
corpus callosumUBERON:000233686.41gold quality
right testisUBERON:000453486.23gold quality
ventricular zoneUBERON:000305384.20gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.76gold quality
endometriumUBERON:000129581.47gold quality
ganglionic eminenceUBERON:000402380.90gold quality
sural nerveUBERON:001548880.73gold quality
thyroid glandUBERON:000204678.15gold quality
left lobe of thyroid glandUBERON:000112077.87gold quality
fallopian tubeUBERON:000388977.68gold quality
left ovaryUBERON:000211977.06gold quality
right lobe of thyroid glandUBERON:000111976.99gold quality
ovaryUBERON:000099276.94gold quality
cortical plateUBERON:000534376.60gold quality
olfactory segment of nasal mucosaUBERON:000538676.54gold quality
body of pancreasUBERON:000115076.49gold quality
bloodUBERON:000017876.36gold quality
colonic epitheliumUBERON:000039776.21gold quality
right lungUBERON:000216776.21gold quality
right ovaryUBERON:000211876.02gold quality
body of uterusUBERON:000985375.83gold quality
myometriumUBERON:000129675.56gold quality
endocervixUBERON:000045875.53gold quality
skeletal muscle tissueUBERON:000113475.27gold quality
lower esophagus mucosaUBERON:003583475.16gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-ANND-3yes9.38
E-MTAB-9388yes6.52
E-MTAB-7303no70.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting KIF27, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-450099.9972.722367
HSA-MIR-314899.9775.066478
HSA-MIR-129799.9173.413162
HSA-MIR-1211999.8768.351653
HSA-MIR-612499.8769.783551
HSA-MIR-26A-5P99.7873.522303
HSA-MIR-26B-5P99.7873.512305
HSA-MIR-446599.7172.562096
HSA-MIR-391599.4568.491905
HSA-MIR-148A-5P99.3068.271141
HSA-MIR-316899.0867.751384
HSA-MIR-3127-3P98.9467.341055
HSA-MIR-6756-3P98.9466.791104
HSA-MIR-430398.0168.132304
HSA-MIR-311697.0765.781324

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusKif27ENSMUSG00000060176
rattus_norvegicusKif27ENSRNOG00000019257

Paralogs (41): KIF1B (ENSG00000054523), KIF26A (ENSG00000066735), KIF2A (ENSG00000068796), KIF22 (ENSG00000079616), KIF3C (ENSG00000084731), KIF9 (ENSG00000088727), KIF16B (ENSG00000089177), KIF4A (ENSG00000090889), KIF3B (ENSG00000101350), KIF20A (ENSG00000112984), KIF21B (ENSG00000116852), KIF17 (ENSG00000117245), KIF14 (ENSG00000118193), KIF18A (ENSG00000121621), KIF25 (ENSG00000125337), KIF1C (ENSG00000129250), KIF1A (ENSG00000130294), KIF3A (ENSG00000131437), KIF12 (ENSG00000136883), KIF13A (ENSG00000137177), KIF23 (ENSG00000137807), KIF11 (ENSG00000138160), CENPE (ENSG00000138778), KIF21A (ENSG00000139116), KIFC3 (ENSG00000140859), KIF2B (ENSG00000141200), KIF2C (ENSG00000142945), KIF5A (ENSG00000155980), KIF26B (ENSG00000162849), KIF15 (ENSG00000163808), KIF6 (ENSG00000164627), KIF7 (ENSG00000166813), KIFC2 (ENSG00000167702), KIF5C (ENSG00000168280), KIF5B (ENSG00000170759), KIF18B (ENSG00000186185), KIF24 (ENSG00000186638), KIF19 (ENSG00000196169), KIF13B (ENSG00000197892), KIF4B (ENSG00000226650)

Protein

Protein identifiers

Kinesin-like protein KIF27Q86VH2 (reviewed: Q86VH2)

All UniProt accessions (2): Q86VH2, F2Z355

UniProt curated annotations — full annotation on UniProt →

Function. Plays an essential role in motile ciliogenesis.

Subunit / interactions. Interacts with STK36.

Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Cilium.

Tissue specificity. Testis, pancreatic islet, germ cell tumors and Jurkat T-cells.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF27 subfamily.

Isoforms (4)

UniProt IDNamesCanonical?
Q86VH2-11, KIF27Ayes
Q86VH2-22, KIF27B
Q86VH2-33, KIF27C
Q86VH2-44

RefSeq proteins (6): NP_001258856, NP_001258857, NP_001340998, NP_001340999, NP_001341000, NP_060046* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001752Kinesin_motor_domDomain
IPR019821Kinesin_motor_CSConserved_site
IPR027417P-loop_NTPaseHomologous_superfamily
IPR027640Kinesin-like_famFamily
IPR036961Kinesin_motor_dom_sfHomologous_superfamily

Pfam: PF00225, PF25764

UniProt features (29 total): modified residue 8, coiled-coil region 6, splice variant 5, sequence variant 3, compositionally biased region 2, region of interest 2, chain 1, domain 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q86VH2-F169.730.15

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 84–91

Post-translational modifications (8): 643, 646, 672, 675, 704, 999, 1367, 1389

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

IDPathway
R-HSA-6811434COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189Kinesins
R-HSA-109582Hemostasis
R-HSA-199991Membrane Trafficking
R-HSA-5653656Vesicle-mediated transport
R-HSA-6811442Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-8856688Golgi-to-ER retrograde transport
R-HSA-983231Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 81 (showing top): GOCC_KINESIN_COMPLEX, REACTOME_MEMBRANE_TRAFFICKING, GOBP_VENTRICULAR_SYSTEM_DEVELOPMENT, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_ORGANELLE_ASSEMBLY, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, GOBP_HEAD_DEVELOPMENT, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_CILIUM, chr9q21, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOMF_CYTOSKELETAL_PROTEIN_BINDING, YOSHIMURA_MAPK8_TARGETS_UP

GO Biological Process (6): epithelial cilium movement involved in extracellular fluid movement (GO:0003351), microtubule-based movement (GO:0007018), ventricular system development (GO:0021591), establishment of localization in cell (GO:0051649), cilium assembly (GO:0060271), cell projection organization (GO:0030030)

GO Molecular Function (7): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), cytoplasm (GO:0005737), kinesin complex (GO:0005871), microtubule (GO:0005874), cilium (GO:0005929), cytoskeleton (GO:0005856), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-6 pathways:

CategoryPathways
Golgi-to-ER retrograde transport1
Factors involved in megakaryocyte development and platelet production1
Vesicle-mediated transport1
Membrane Trafficking1
Intra-Golgi and retrograde Golgi-to-ER traffic1
Hemostasis1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
ATP-dependent activity2
cilium movement1
extracellular transport1
microtubule-based transport1
microtubule-based process1
brain development1
system development1
establishment of localization1
cellular localization1
axoneme assembly1
intraciliary transport involved in cilium assembly1
cilium organization1
protein localization to cilium1
organelle assembly1
trans-Golgi to periciliary membrane compartment transport1
plasma membrane bounded cell projection assembly1
ciliary transition zone assembly1
cellular component organization1
cytoskeletal motor activity1
polypeptide conformation or assembly isomerase activity1
adenyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
tubulin binding1
ribonucleoside triphosphate phosphatase activity1
nucleoside phosphate binding1
heterocyclic compound binding1
molecular_function1
binding1
intracellular anatomical structure1
microtubule associated complex1
microtubule cytoskeleton1
polymeric cytoskeletal fiber1
intraciliary transport particle1
membrane-bounded organelle1
plasma membrane bounded cell projection1
intracellular membraneless organelle1

Protein interactions and networks

STRING

952 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KIF27STK36Q9NRP7919
KIF27SUFUQ9UMX1811
KIF27GLI3P10071787
KIF27SMOQ99835757
KIF27GLI1P08151734
KIF27GLI2P10070728
KIF27PTCH1Q13635601
KIF27SHHQ15465580
KIF27GKAP1Q5VSY0579
KIF27IHHQ14623567
KIF27TUSC2O75896549
KIF27HHIPQ96QV1505
KIF27PTCH2Q9Y6C5499
KIF27AXDND1Q5T1B0485
KIF27DPCDQ9BVM2479

IntAct

13 interactions, top by confidence:

ABTypeScore
STAT3STAT3psi-mi:“MI:0914”(association)0.840
MAGEA6KIF27psi-mi:“MI:0915”(physical association)0.560
MAGEA3KIF27psi-mi:“MI:0915”(physical association)0.560
TBC1D7TSC2psi-mi:“MI:0914”(association)0.530
KIF27PRKCSHpsi-mi:“MI:0915”(physical association)0.400
TBC1D7TSC2psi-mi:“MI:0914”(association)0.350
GPC3PXDNLpsi-mi:“MI:0914”(association)0.350
SNW1psi-mi:“MI:0914”(association)0.350
KIF27MAGEA6psi-mi:“MI:0915”(physical association)0.000
KIF27MAGEA3psi-mi:“MI:0915”(physical association)0.000

BioGRID (19): KIF27 (Affinity Capture-MS), KIF27 (Affinity Capture-MS), KIF27 (Affinity Capture-MS), KIF27 (Affinity Capture-MS), KIF27 (Affinity Capture-MS), KIF27 (Affinity Capture-MS), KIF27 (Affinity Capture-MS), KIF27 (Affinity Capture-MS), MAGEA6 (Two-hybrid), MAGEA3 (Two-hybrid), KIF27 (Proximity Label-MS), KIF27 (Affinity Capture-MS), KIF27 (Affinity Capture-MS), KIF27 (Affinity Capture-MS), KIF27 (Affinity Capture-MS)

ESM2 similar proteins: A0A068FIK2, B3H6Z8, B9F2Y7, B9F7C8, B9FAF3, B9FL70, B9FS33, B9FTR1, B9G8P1, B9GE13, F1M5N7, F4HZF0, F4IAR2, F4IBQ9, F4IGL2, F4IL57, F4J1U4, F4J2M6, F4JUI9, F4JX00, F4K0J3, O75037, O81635, Q0E2L3, Q0IMS9, Q27IK6, Q2QM62, Q58G59, Q5JKW1, Q6H638, Q6YUL8, Q75LL2, Q7M6Z4, Q7XKR9, Q7Z4S6, Q86VH2, Q8GS71, Q8LNZ2, Q8S905, Q8S949

Diamond homologs: A0A068FIK2, A0JN40, A1ZAJ2, A8BB91, A8BKD1, B1AVY7, B7EJ91, B7ZNG0, B9F2Y7, B9GE13, F1M4A4, F1M5N7, F1QN54, F4IIS5, F4J1U4, F4K0J3, G5EGS3, O14343, O14782, O15066, O23826, O35066, O35071, O35787, O43896, O45935, O55165, O60282, O60333, O75037, O88658, O95239, P17210, P21613, P23678, P28738, P28741, P33173, P33174, P33175

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

226 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance184
Likely benign11
Benign9

Top pathogenic / likely-pathogenic (0)

SpliceAI

3759 predictions. Top by Δscore:

VariantEffectΔscore
9:83842235:A:ACdonor_gain1.0000
9:83842236:C:CCdonor_gain1.0000
9:83842236:CA:Cdonor_gain1.0000
9:83842236:CACT:Cdonor_gain1.0000
9:83842269:T:TAdonor_gain1.0000
9:83842281:T:TAdonor_gain1.0000
9:83842400:TTCTA:Tacceptor_loss1.0000
9:83842401:TCTA:Tacceptor_loss1.0000
9:83842402:C:CAacceptor_loss1.0000
9:83842402:C:CCacceptor_gain1.0000
9:83842403:T:Gacceptor_loss1.0000
9:83850094:GTTA:Gdonor_loss1.0000
9:83850098:C:CAdonor_loss1.0000
9:83850294:CCAC:Cacceptor_gain1.0000
9:83850295:CAC:Cacceptor_gain1.0000
9:83850295:CACC:Cacceptor_gain1.0000
9:83850298:C:CCacceptor_gain1.0000
9:83853661:T:Cdonor_gain1.0000
9:83853666:A:Cdonor_gain1.0000
9:83853685:G:Cdonor_gain1.0000
9:83853745:T:TAdonor_gain1.0000
9:83853765:T:Adonor_gain1.0000
9:83867705:ATTTT:Adonor_gain1.0000
9:83867857:ATTT:Aacceptor_gain1.0000
9:83867857:ATTTC:Aacceptor_loss1.0000
9:83867858:TTT:Tacceptor_gain1.0000
9:83867858:TTTC:Tacceptor_loss1.0000
9:83867859:TT:Tacceptor_gain1.0000
9:83867860:TC:Tacceptor_loss1.0000
9:83867861:C:CCacceptor_gain1.0000

AlphaMissense

9261 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
9:83903514:G:TA335D0.999
9:83903515:C:GA335P0.999
9:83903523:A:GL332P0.999
9:83903598:C:TG307E0.999
9:83903613:A:GL302P0.999
9:83903619:C:GR300P0.999
9:83903636:C:AR294S0.999
9:83903636:C:GR294S0.999
9:83903637:C:AR294M0.999
9:83903637:C:GR294T0.999
9:83903641:A:CY293D0.999
9:83903685:A:TI278K0.999
9:83915353:A:TV80D0.999
9:83903489:G:CN343K0.998
9:83903489:G:TN343K0.998
9:83903491:T:CN343D0.998
9:83903518:A:GY334H0.998
9:83903523:A:TL332H0.998
9:83903601:A:GL306P0.998
9:83903601:A:TL306Q0.998
9:83903616:A:GL301P0.998
9:83903676:A:GL281P0.998
9:83903680:C:GA280P0.998
9:83903685:A:CI278R0.998
9:83903694:C:TG275E0.998
9:83908614:C:GA113P0.998
9:83915341:C:AG84V0.998
9:83915341:C:TG84E0.998
9:83915566:G:TA9D0.998
9:83903506:C:GA338P0.997

dbSNP variants (sampled 300 via entrez): RS1000025363 (9:83916670 T>C), RS1000025798 (9:83872610 TAA>T), RS1000136989 (9:83886933 C>A), RS1000219357 (9:83883205 C>G), RS1000242368 (9:83835864 C>A,G), RS1000272057 (9:83920133 A>G), RS1000302376 (9:83853074 A>G), RS1000308772 (9:83921691 T>C), RS1000309240 (9:83835540 GT>G), RS1000329725 (9:83890019 A>C,G), RS1000460342 (9:83882883 A>G), RS1000495795 (9:83922495 C>T), RS1000544688 (9:83904122 TA>T), RS1000615522 (9:83909258 T>C,G), RS1000627286 (9:83908959 T>C)

Disease associations

OMIM: gene MIM:611253 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

8 associations (top):

StudyTraitp-value
GCST006268_519Reaction time1.000000e-08
GCST009597_96Multiple sclerosis1.000000e-06
GCST010242_452HDL cholesterol levels5.000000e-11
GCST012226_766Waist circumference adjusted for body mass index8.000000e-09
GCST012226_767Waist circumference adjusted for body mass index5.000000e-09
GCST90002382_294Eosinophil percentage of white cells1.000000e-32
GCST90020028_332Hip circumference adjusted for BMI4.000000e-13
GCST90020028_333Hip circumference adjusted for BMI2.000000e-09

EFO canonical traits (5, from GWAS)

EFO IDTrait name
EFO:0008393reaction time measurement
EFO:0004612high density lipoprotein cholesterol measurement
EFO:0007789BMI-adjusted waist circumference
EFO:0007991eosinophil percentage of leukocytes
EFO:0008039BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3879867 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

ChemicalActions (top 5)PubMed papers
triphenyl phosphateaffects expression1
bisphenol Aincreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
sodium arsenitedecreases expression1
methacrylaldehydeincreases expression, affects cotreatment1
di-n-butylphosphoric acidaffects expression1
bisphenol Saffects cotreatment, decreases methylation1
Sunitinibincreases expression1
Arsenic Trioxideincreases expression1
Fulvestrantdecreases methylation, affects cotreatment1
Acetaminophendecreases expression1
Acroleinaffects cotreatment, increases expression1
Benzo(a)pyreneincreases methylation1
Leaddecreases expression1
Ozoneaffects cotreatment, increases expression1
Tobacco Smoke Pollutiondecreases expression1
Mifepristoneincreases expression1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL3860187BindingInhibition of basal ATPase activity of human Kif27 at 200 uM by pyruvate kinase/lactate dehydrogenase-linked assayDepsidones from Lichens as Natural Product Inhibitors of M-Phase Phosphoprotein 1, a Human Kinesin Required for Cytokinesis. — J Nat Prod

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.