KIF27
gene geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:18632 |
| Approved symbol | KIF27 |
| Name | kinesin family member 27 |
| Location | 9q21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp434D0917 |
| Ensembl gene | ENSG00000165115 |
| Ensembl biotype | protein_coding |
| OMIM | 611253 |
| Entrez | 55582 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001090481 | 83880297 | 83880494 |
| ENSE00001090483 | 83859156 | 83859371 |
| ENSE00001090486 | 83888489 | 83888592 |
| ENSE00001337625 | 83921371 | 83921432 |
| ENSE00001598476 | 83889084 | 83889253 |
| ENSE00001617866 | 83867684 | 83867860 |
| ENSE00001657189 | 83891295 | 83891501 |
| ENSE00001675380 | 83853629 | 83853835 |
| ENSE00001718023 | 83908452 | 83908652 |
| ENSE00001725770 | 83842237 | 83842401 |
| ENSE00001735116 | 83883813 | 83884018 |
| ENSE00001746732 | 83903060 | 83904018 |
| ENSE00001750278 | 83850099 | 83850297 |
| ENSE00001751975 | 83887041 | 83887196 |
| ENSE00001762462 | 83870519 | 83870632 |
| ENSE00002237135 | 83915294 | 83915678 |
| ENSE00003635457 | 83899661 | 83899804 |
| ENSE00003847033 | 83834099 | 83837485 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 101154 | 5.4149 | 1633 |
| 101155 | 0.4959 | 246 |
Top tissues by expression
138 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 89.17 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.94 | gold quality |
| testis | UBERON:0000473 | 87.22 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.04 | gold quality |
| left testis | UBERON:0004533 | 86.90 | gold quality |
| corpus callosum | UBERON:0002336 | 86.41 | gold quality |
| right testis | UBERON:0004534 | 86.23 | gold quality |
| ventricular zone | UBERON:0003053 | 84.20 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.76 | gold quality |
| endometrium | UBERON:0001295 | 81.47 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.90 | gold quality |
| sural nerve | UBERON:0015488 | 80.73 | gold quality |
| thyroid gland | UBERON:0002046 | 78.15 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 77.87 | gold quality |
| fallopian tube | UBERON:0003889 | 77.68 | gold quality |
| left ovary | UBERON:0002119 | 77.06 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 76.99 | gold quality |
| ovary | UBERON:0000992 | 76.94 | gold quality |
| cortical plate | UBERON:0005343 | 76.60 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 76.54 | gold quality |
| body of pancreas | UBERON:0001150 | 76.49 | gold quality |
| blood | UBERON:0000178 | 76.36 | gold quality |
| colonic epithelium | UBERON:0000397 | 76.21 | gold quality |
| right lung | UBERON:0002167 | 76.21 | gold quality |
| right ovary | UBERON:0002118 | 76.02 | gold quality |
| body of uterus | UBERON:0009853 | 75.83 | gold quality |
| myometrium | UBERON:0001296 | 75.56 | gold quality |
| endocervix | UBERON:0000458 | 75.53 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 75.27 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 75.16 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.38 |
| E-MTAB-9388 | yes | 6.52 |
| E-MTAB-7303 | no | 70.12 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-148A-5P | 99.30 | 68.27 | 1141 |
| HSA-MIR-3168 | 99.08 | 67.75 | 1384 |
| HSA-MIR-3127-3P | 98.94 | 67.34 | 1055 |
| HSA-MIR-6756-3P | 98.94 | 66.79 | 1104 |
| HSA-MIR-4303 | 98.01 | 68.13 | 2304 |
| HSA-MIR-3116 | 97.07 | 65.78 | 1324 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Kif27 | ENSMUSG00000060176 |
| rattus_norvegicus | Kif27 | ENSRNOG00000019257 |
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 KIF27 — Q86VH2 (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 ID | Names | Canonical? |
|---|---|---|
| Q86VH2-1 | 1, KIF27A | yes |
| Q86VH2-2 | 2, KIF27B | |
| Q86VH2-3 | 3, KIF27C | |
| Q86VH2-4 | 4 |
RefSeq proteins (6): NP_001258856, NP_001258857, NP_001340998, NP_001340999, NP_001341000, NP_060046* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001752 | Kinesin_motor_dom | Domain |
| IPR019821 | Kinesin_motor_CS | Conserved_site |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR027640 | Kinesin-like_fam | Family |
| IPR036961 | Kinesin_motor_dom_sf | Homologous_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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86VH2-F1 | 69.73 | 0.15 |
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
| ID | Pathway |
|---|---|
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-983189 | Kinesins |
| R-HSA-109582 | Hemostasis |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| R-HSA-8856688 | Golgi-to-ER retrograde transport |
| R-HSA-983231 | Factors 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:
| Category | Pathways |
|---|---|
| Golgi-to-ER retrograde transport | 1 |
| Factors involved in megakaryocyte development and platelet production | 1 |
| Vesicle-mediated transport | 1 |
| Membrane Trafficking | 1 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
| Hemostasis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| ATP-dependent activity | 2 |
| cilium movement | 1 |
| extracellular transport | 1 |
| microtubule-based transport | 1 |
| microtubule-based process | 1 |
| brain development | 1 |
| system development | 1 |
| establishment of localization | 1 |
| cellular localization | 1 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| cellular component organization | 1 |
| cytoskeletal motor activity | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| tubulin binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| microtubule associated complex | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
952 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KIF27 | STK36 | Q9NRP7 | 919 |
| KIF27 | SUFU | Q9UMX1 | 811 |
| KIF27 | GLI3 | P10071 | 787 |
| KIF27 | SMO | Q99835 | 757 |
| KIF27 | GLI1 | P08151 | 734 |
| KIF27 | GLI2 | P10070 | 728 |
| KIF27 | PTCH1 | Q13635 | 601 |
| KIF27 | SHH | Q15465 | 580 |
| KIF27 | GKAP1 | Q5VSY0 | 579 |
| KIF27 | IHH | Q14623 | 567 |
| KIF27 | TUSC2 | O75896 | 549 |
| KIF27 | HHIP | Q96QV1 | 505 |
| KIF27 | PTCH2 | Q9Y6C5 | 499 |
| KIF27 | AXDND1 | Q5T1B0 | 485 |
| KIF27 | DPCD | Q9BVM2 | 479 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STAT3 | STAT3 | psi-mi:“MI:0914”(association) | 0.840 |
| MAGEA6 | KIF27 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEA3 | KIF27 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBC1D7 | TSC2 | psi-mi:“MI:0914”(association) | 0.530 |
| KIF27 | PRKCSH | psi-mi:“MI:0915”(physical association) | 0.400 |
| TBC1D7 | TSC2 | psi-mi:“MI:0914”(association) | 0.350 |
| GPC3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| SNW1 | psi-mi:“MI:0914”(association) | 0.350 | |
| KIF27 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| KIF27 | MAGEA3 | psi-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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 184 |
| Likely benign | 11 |
| Benign | 9 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3759 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:83842235:A:AC | donor_gain | 1.0000 |
| 9:83842236:C:CC | donor_gain | 1.0000 |
| 9:83842236:CA:C | donor_gain | 1.0000 |
| 9:83842236:CACT:C | donor_gain | 1.0000 |
| 9:83842269:T:TA | donor_gain | 1.0000 |
| 9:83842281:T:TA | donor_gain | 1.0000 |
| 9:83842400:TTCTA:T | acceptor_loss | 1.0000 |
| 9:83842401:TCTA:T | acceptor_loss | 1.0000 |
| 9:83842402:C:CA | acceptor_loss | 1.0000 |
| 9:83842402:C:CC | acceptor_gain | 1.0000 |
| 9:83842403:T:G | acceptor_loss | 1.0000 |
| 9:83850094:GTTA:G | donor_loss | 1.0000 |
| 9:83850098:C:CA | donor_loss | 1.0000 |
| 9:83850294:CCAC:C | acceptor_gain | 1.0000 |
| 9:83850295:CAC:C | acceptor_gain | 1.0000 |
| 9:83850295:CACC:C | acceptor_gain | 1.0000 |
| 9:83850298:C:CC | acceptor_gain | 1.0000 |
| 9:83853661:T:C | donor_gain | 1.0000 |
| 9:83853666:A:C | donor_gain | 1.0000 |
| 9:83853685:G:C | donor_gain | 1.0000 |
| 9:83853745:T:TA | donor_gain | 1.0000 |
| 9:83853765:T:A | donor_gain | 1.0000 |
| 9:83867705:ATTTT:A | donor_gain | 1.0000 |
| 9:83867857:ATTT:A | acceptor_gain | 1.0000 |
| 9:83867857:ATTTC:A | acceptor_loss | 1.0000 |
| 9:83867858:TTT:T | acceptor_gain | 1.0000 |
| 9:83867858:TTTC:T | acceptor_loss | 1.0000 |
| 9:83867859:TT:T | acceptor_gain | 1.0000 |
| 9:83867860:TC:T | acceptor_loss | 1.0000 |
| 9:83867861:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
9261 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:83903514:G:T | A335D | 0.999 |
| 9:83903515:C:G | A335P | 0.999 |
| 9:83903523:A:G | L332P | 0.999 |
| 9:83903598:C:T | G307E | 0.999 |
| 9:83903613:A:G | L302P | 0.999 |
| 9:83903619:C:G | R300P | 0.999 |
| 9:83903636:C:A | R294S | 0.999 |
| 9:83903636:C:G | R294S | 0.999 |
| 9:83903637:C:A | R294M | 0.999 |
| 9:83903637:C:G | R294T | 0.999 |
| 9:83903641:A:C | Y293D | 0.999 |
| 9:83903685:A:T | I278K | 0.999 |
| 9:83915353:A:T | V80D | 0.999 |
| 9:83903489:G:C | N343K | 0.998 |
| 9:83903489:G:T | N343K | 0.998 |
| 9:83903491:T:C | N343D | 0.998 |
| 9:83903518:A:G | Y334H | 0.998 |
| 9:83903523:A:T | L332H | 0.998 |
| 9:83903601:A:G | L306P | 0.998 |
| 9:83903601:A:T | L306Q | 0.998 |
| 9:83903616:A:G | L301P | 0.998 |
| 9:83903676:A:G | L281P | 0.998 |
| 9:83903680:C:G | A280P | 0.998 |
| 9:83903685:A:C | I278R | 0.998 |
| 9:83903694:C:T | G275E | 0.998 |
| 9:83908614:C:G | A113P | 0.998 |
| 9:83915341:C:A | G84V | 0.998 |
| 9:83915341:C:T | G84E | 0.998 |
| 9:83915566:G:T | A9D | 0.998 |
| 9:83903506:C:G | A338P | 0.997 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST006268_519 | Reaction time | 1.000000e-08 |
| GCST009597_96 | Multiple sclerosis | 1.000000e-06 |
| GCST010242_452 | HDL cholesterol levels | 5.000000e-11 |
| GCST012226_766 | Waist circumference adjusted for body mass index | 8.000000e-09 |
| GCST012226_767 | Waist circumference adjusted for body mass index | 5.000000e-09 |
| GCST90002382_294 | Eosinophil percentage of white cells | 1.000000e-32 |
| GCST90020028_332 | Hip circumference adjusted for BMI | 4.000000e-13 |
| GCST90020028_333 | Hip circumference adjusted for BMI | 2.000000e-09 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008393 | reaction time measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0008039 | BMI-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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| methacrylaldehyde | increases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Lead | decreases expression | 1 |
| Ozone | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Mifepristone | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3860187 | Binding | Inhibition of basal ATPase activity of human Kif27 at 200 uM by pyruvate kinase/lactate dehydrogenase-linked assay | Depsidones 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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.