KIF9
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Also known as MGC104186
Summary
KIF9 (kinesin family member 9, HGNC:16666) is a protein-coding gene on chromosome 3p21.31, encoding Kinesin-like protein KIF9 (Q9HAQ2). Essential for normal male fertility and for progressive motility of spermatozoa.
Enables identical protein binding activity. Involved in extracellular matrix disassembly; organelle disassembly; and regulation of podosome assembly. Located in microtubule; podosome; and vesicle.
Source: NCBI Gene 64147 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 148 total
- Druggable target: yes
- MANE Select transcript:
NM_182902
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16666 |
| Approved symbol | KIF9 |
| Name | kinesin family member 9 |
| Location | 3p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC104186 |
| Ensembl gene | ENSG00000088727 |
| Ensembl biotype | protein_coding |
| OMIM | 607910 |
| Entrez | 64147 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 15 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000265529, ENST00000425452, ENST00000425853, ENST00000432493, ENST00000443784, ENST00000444589, ENST00000452770, ENST00000456548, ENST00000484629, ENST00000487440, ENST00000489391, ENST00000498584, ENST00000684063, ENST00000888734, ENST00000888735, ENST00000888736, ENST00000888737, ENST00000964529, ENST00000964530, ENST00000964531
RefSeq mRNA: 9 — MANE Select: NM_182902
NM_001134878, NM_001377474, NM_001377475, NM_001377476, NM_001377477, NM_001413975, NM_001413976, NM_022342, NM_182902
CCDS: CCDS2751, CCDS2752, CCDS93262
Canonical transcript exons
ENST00000684063 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001080808 | 47236443 | 47236619 |
| ENSE00001804907 | 47235513 | 47235617 |
| ENSE00003460241 | 47265730 | 47265877 |
| ENSE00003465650 | 47240801 | 47241015 |
| ENSE00003530673 | 47277282 | 47277379 |
| ENSE00003534487 | 47264286 | 47264350 |
| ENSE00003547071 | 47273552 | 47273658 |
| ENSE00003564866 | 47243051 | 47243245 |
| ENSE00003573508 | 47257483 | 47257560 |
| ENSE00003575096 | 47266976 | 47267068 |
| ENSE00003587340 | 47275325 | 47275490 |
| ENSE00003594742 | 47246197 | 47246252 |
| ENSE00003646750 | 47236034 | 47236149 |
| ENSE00003651396 | 47248018 | 47248086 |
| ENSE00003656057 | 47247373 | 47247477 |
| ENSE00003657334 | 47271237 | 47271461 |
| ENSE00003672991 | 47244791 | 47244924 |
| ENSE00003678018 | 47245421 | 47245511 |
| ENSE00003689403 | 47267180 | 47267263 |
| ENSE00003916407 | 47282495 | 47282799 |
| ENSE00003920900 | 47227998 | 47228702 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 98.24.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.8740 / max 111.8691, expressed in 1744 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42038 | 4.2428 | 1663 |
| 42037 | 1.7390 | 933 |
| 42036 | 0.8972 | 499 |
| 42035 | 0.5002 | 254 |
| 42034 | 0.4948 | 176 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 98.24 | gold quality |
| bronchus | UBERON:0002185 | 97.56 | gold quality |
| sperm | CL:0000019 | 95.95 | gold quality |
| caput epididymis | UBERON:0004358 | 95.18 | gold quality |
| left testis | UBERON:0004533 | 95.18 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.95 | gold quality |
| kidney epithelium | UBERON:0004819 | 94.87 | gold quality |
| right testis | UBERON:0004534 | 94.75 | gold quality |
| adult organism | UBERON:0007023 | 94.73 | gold quality |
| testis | UBERON:0000473 | 93.95 | gold quality |
| right uterine tube | UBERON:0001302 | 93.42 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.86 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 92.61 | gold quality |
| corpus epididymis | UBERON:0004359 | 92.46 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.45 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 91.39 | gold quality |
| oviduct epithelium | UBERON:0004804 | 91.14 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 90.73 | silver quality |
| epithelium of nasopharynx | UBERON:0001951 | 89.99 | gold quality |
| nasopharynx | UBERON:0001728 | 89.97 | gold quality |
| amniotic fluid | UBERON:0000173 | 89.46 | gold quality |
| myocardium | UBERON:0002349 | 89.14 | silver quality |
| parotid gland | UBERON:0001831 | 89.01 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 88.63 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 88.54 | silver quality |
| ileal mucosa | UBERON:0000331 | 88.34 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.24 | gold quality |
| thyroid gland | UBERON:0002046 | 87.92 | gold quality |
| fallopian tube | UBERON:0003889 | 87.90 | gold quality |
| hypothalamus | UBERON:0001898 | 87.21 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10485 | yes | 503.82 |
| E-CURD-114 | yes | 62.93 |
| E-HCAD-1 | yes | 30.21 |
| E-MTAB-10287 | yes | 27.40 |
| E-ANND-3 | yes | 10.38 |
| E-MTAB-9388 | yes | 7.36 |
| E-GEOD-125970 | no | 3.89 |
| E-CURD-112 | no | 2.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting KIF9, 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-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-548AS-3P | 99.12 | 69.12 | 2294 |
| HSA-MIR-10524-5P | 99.05 | 66.08 | 963 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-2117 | 98.48 | 67.97 | 1307 |
| HSA-MIR-3187-5P | 98.36 | 65.74 | 1776 |
| HSA-MIR-6811-5P | 97.98 | 64.96 | 848 |
| HSA-MIR-6511B-5P | 97.98 | 65.64 | 823 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-1285-3P | 97.72 | 67.02 | 1932 |
| HSA-MIR-5189-5P | 97.72 | 66.96 | 1814 |
| HSA-MIR-708-3P | 97.50 | 68.67 | 1082 |
| HSA-MIR-6501-5P | 97.41 | 68.24 | 712 |
| HSA-MIR-612 | 97.26 | 65.95 | 1597 |
| HSA-MIR-6131 | 97.22 | 66.72 | 960 |
| HSA-MIR-6860 | 97.21 | 66.31 | 1656 |
| HSA-MIR-6748-3P | 97.20 | 65.66 | 836 |
| HSA-MIR-656-5P | 96.82 | 67.67 | 372 |
| HSA-MIR-1182 | 96.41 | 64.89 | 336 |
| HSA-MIR-920 | 95.97 | 63.95 | 811 |
| HSA-MIR-4268 | 94.45 | 64.09 | 819 |
Literature-anchored findings (GeneRIF, showing 3)
- kinesin KIF9 and reggie/flotillin proteins are novel regulators of macrophage podosomes and their interaction is critical for podosomal matrix-degradation (PMID:21119006)
- Data show a mechanism by which GTPase Gem contributes to the mitotic progression by maintaining correct spindle length through the kinesin Kif9. (PMID:22964304)
- Identification of bi-allelic KIF9 loss-of-function variants contributing to asthenospermia and male infertility in two Chinese families. (PMID:36686457)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Kif9 | ENSMUSG00000032489 |
| rattus_norvegicus | Kif9 | ENSRNOG00000020891 |
Paralogs (41): KIF1B (ENSG00000054523), KIF26A (ENSG00000066735), KIF2A (ENSG00000068796), KIF22 (ENSG00000079616), KIF3C (ENSG00000084731), 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), KIF27 (ENSG00000165115), KIF7 (ENSG00000166813), KIFC2 (ENSG00000167702), KIF5C (ENSG00000168280), KIF5B (ENSG00000170759), KIF18B (ENSG00000186185), KIF24 (ENSG00000186638), KIF19 (ENSG00000196169), KIF13B (ENSG00000197892), KIF4B (ENSG00000226650)
Protein
Protein identifiers
Kinesin-like protein KIF9 — Q9HAQ2 (reviewed: Q9HAQ2)
All UniProt accessions (5): Q9HAQ2, B4DZK5, C9JWZ7, E7EUW8, Q6PJI1
UniProt curated annotations — full annotation on UniProt →
Function. Essential for normal male fertility and for progressive motility of spermatozoa.
Subunit / interactions. Interacts with HYDIN.
Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Cilium. Flagellum. Flagellum axoneme.
Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HAQ2-1 | 1 | yes |
| Q9HAQ2-2 | 2 |
RefSeq proteins (9): NP_001128350, NP_001364403, NP_001364404, NP_001364405, NP_001364406, NP_001400904, NP_001400905, NP_071737, NP_878905* (*=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 |
| IPR056524 | KIF6/9_C | Domain |
Pfam: PF00225, PF23735
UniProt features (47 total): helix 15, strand 14, sequence variant 3, compositionally biased region 3, modified residue 2, turn 2, coiled-coil region 2, binding site 2, chain 1, domain 1, splice variant 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3NWN | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HAQ2-F1 | 74.86 | 0.37 |
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 (2): 12–14; 93–100
Post-translational modifications (2): 530, 546
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: 191 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, TGCGCANK_UNKNOWN, GOBP_REGULATION_OF_PODOSOME_ASSEMBLY, SP3_Q3, GOCC_KINESIN_COMPLEX, TAL1ALPHAE47_01, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, MYOD_01, GOBP_CILIUM_MOVEMENT, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS
GO Biological Process (5): microtubule-based movement (GO:0007018), extracellular matrix disassembly (GO:0022617), regulation of podosome assembly (GO:0071801), regulation of flagellated sperm motility (GO:1901317), organelle disassembly (GO:1903008)
GO Molecular Function (8): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), ATP hydrolysis activity (GO:0016887), identical protein binding (GO:0042802), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), protein binding (GO:0005515)
GO Cellular Component (10): podosome (GO:0002102), cytoplasm (GO:0005737), kinesin complex (GO:0005871), microtubule (GO:0005874), vesicle (GO:0031982), sperm flagellum (GO:0036126), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), 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 component disassembly | 2 |
| ATP-dependent activity | 2 |
| cellular anatomical structure | 2 |
| membrane-bounded organelle | 2 |
| microtubule-based process | 1 |
| extracellular matrix organization | 1 |
| regulation of protein-containing complex assembly | 1 |
| podosome assembly | 1 |
| regulation of plasma membrane bounded cell projection assembly | 1 |
| flagellated sperm motility | 1 |
| regulation of cilium movement involved in cell motility | 1 |
| regulation of reproductive process | 1 |
| organelle 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 |
| protein binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| actin-based cell projection | 1 |
| intracellular anatomical structure | 1 |
| microtubule associated complex | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| 9+2 motile cilium | 1 |
| intracellular membraneless organelle | 1 |
| intraciliary transport particle | 1 |
| plasma membrane bounded cell projection | 1 |
| cilium | 1 |
Protein interactions and networks
STRING
939 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KIF9 | GEM | P55040 | 911 |
| KIF9 | NAT14 | Q8WUY8 | 657 |
| KIF9 | KLHL18 | O94889 | 582 |
| KIF9 | SUN1 | O94901 | 575 |
| KIF9 | NXF2B | Q9GZY0 | 561 |
| KIF9 | CLBA1 | Q96F83 | 557 |
| KIF9 | CCDC12 | Q8WUD4 | 544 |
| KIF9 | RAC2 | P15153 | 540 |
| KIF9 | VWA5B2 | Q8N398 | 474 |
| KIF9 | CPLANE2 | Q9BU20 | 473 |
| KIF9 | REM2 | Q8IYK8 | 462 |
| KIF9 | RSPH6A | Q9H0K4 | 434 |
| KIF9 | LRWD1 | Q9UFC0 | 421 |
| KIF9 | RAB40AL | P0C0E4 | 417 |
| KIF9 | TUBD1 | Q9UJT1 | 409 |
IntAct
159 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ACBD4 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF9 | SLAIN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF9 | SHISA6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PNMA5 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KANK2 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF9 | IKZF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF9 | GOLGA6A | psi-mi:“MI:0915”(physical association) | 0.560 |
| ALAS1 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IHO1 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOOK2 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF9 | AMOTL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HMBOX1 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSF2BP | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF9 | LZTS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-6 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM54 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R13B | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF9 | MAD1L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCTD9 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VIM | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF9 | ZRANB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF9 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIBF1 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FXR1 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MIPOL1 | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EMD | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB8A | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (73): KIF9 (Two-hybrid), KIF9 (Two-hybrid), KIF9 (Two-hybrid), KIF9 (Two-hybrid), KIF9 (Two-hybrid), KIF9 (Two-hybrid), CARD9 (Two-hybrid), EFHC2 (Two-hybrid), LZTS2 (Two-hybrid), SSX2IP (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-3 (Two-hybrid), ZBTB8A (Two-hybrid), FAM188A (Affinity Capture-MS), KIF9 (Two-hybrid)
ESM2 similar proteins: A0JN40, A1ZAJ2, A8BKD1, F1M4A4, F1QN54, F4J8L3, O00139, O14782, O15066, O35066, O55165, O60333, O88658, P23678, P28740, P28741, P33173, P34540, P46867, P46871, P46873, Q12756, Q15058, Q17BU3, Q28WQ1, Q29DY1, Q2NL05, Q4R628, Q5R4H3, Q5R706, Q5R9Y9, Q5ZKV8, Q60575, Q61771, Q7PHR1, Q8LNZ2, Q8S905, Q8S950, Q91636, Q91637
Diamond homologs: A0A068FIK2, A0JN40, A8BB91, A8BKD1, B2GU58, B7EJ91, B7ZC32, B9EUM5, B9F2Y7, B9F7C8, B9GE13, D3YXS5, F1M4A4, F1M5N7, F1QN54, F4IIS5, F4J1U4, F4K0J3, F8WLE0, O14782, O15066, O23826, O35066, O43093, O45935, O55165, O60333, O75037, O88658, O95239, P17120, P24339, P27895, P28025, P28741, P28742, P33173, P33174, P34540, P46863
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
148 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 116 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4146 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:47236028:GCTCA:G | donor_loss | 1.0000 |
| 3:47236029:CTCA:C | donor_loss | 1.0000 |
| 3:47236030:TCACC:T | donor_loss | 1.0000 |
| 3:47236031:CACC:C | donor_loss | 1.0000 |
| 3:47236032:A:T | donor_loss | 1.0000 |
| 3:47236045:T:TA | donor_gain | 1.0000 |
| 3:47236148:TT:T | acceptor_gain | 1.0000 |
| 3:47236150:C:CC | acceptor_gain | 1.0000 |
| 3:47236466:TGATC:T | donor_gain | 1.0000 |
| 3:47236488:A:AC | donor_gain | 1.0000 |
| 3:47236489:C:CC | donor_gain | 1.0000 |
| 3:47236498:AGC:A | donor_gain | 1.0000 |
| 3:47236514:AGGT:A | donor_gain | 1.0000 |
| 3:47236615:CTTGC:C | acceptor_gain | 1.0000 |
| 3:47236618:GCCTG:G | acceptor_loss | 1.0000 |
| 3:47236619:CCTGC:C | acceptor_loss | 1.0000 |
| 3:47236620:C:CC | acceptor_gain | 1.0000 |
| 3:47236620:C:T | acceptor_loss | 1.0000 |
| 3:47240796:TTTA:T | donor_loss | 1.0000 |
| 3:47240797:TTACC:T | donor_loss | 1.0000 |
| 3:47240798:TACC:T | donor_loss | 1.0000 |
| 3:47240800:CCT:C | donor_loss | 1.0000 |
| 3:47244788:CA:C | donor_loss | 1.0000 |
| 3:47244789:A:AC | donor_gain | 1.0000 |
| 3:47244790:C:CC | donor_gain | 1.0000 |
| 3:47244920:CCCGC:C | acceptor_gain | 1.0000 |
| 3:47244921:CCGC:C | acceptor_gain | 1.0000 |
| 3:47244921:CCGCC:C | acceptor_gain | 1.0000 |
| 3:47244922:CGC:C | acceptor_gain | 1.0000 |
| 3:47244922:CGCC:C | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000016139 (3:47255546 G>A), RS1000098136 (3:47264491 C>A,T), RS1000106868 (3:47260376 C>A,T), RS1000114736 (3:47238650 T>C), RS1000258294 (3:47258211 C>A), RS1000380200 (3:47234473 A>G), RS1000385873 (3:47254066 G>C), RS1000397071 (3:47244504 C>A,T), RS1000441609 (3:47267766 G>T), RS1000527636 (3:47272851 G>A,T), RS1000594018 (3:47246441 G>T), RS1000702185 (3:47279414 T>C), RS1000750863 (3:47253976 T>C), RS1000834144 (3:47271643 C>A,T), RS1000934261 (3:47278249 T>C)
Disease associations
OMIM: gene MIM:607910 | disease phenotypes: MIM:616831
GenCC curated gene-disease
Mondo (1): Luscan-Lumish syndrome (MONDO:0014791)
Orphanet (1): Luscan-Lumish syndrome (Orphanet:597738)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004691_3 | Huntington’s disease progression | 2.000000e-06 |
| GCST007483_33 | Waist-to-hip ratio adjusted for BMI (additive genetic model) | 3.000000e-07 |
| GCST007516_4 | Type 2 diabetes (adjusted for BMI) | 5.000000e-08 |
| GCST009379_247 | Type 2 diabetes | 2.000000e-08 |
| GCST009379_248 | Type 2 diabetes | 8.000000e-06 |
| GCST010002_422 | Refractive error | 4.000000e-14 |
| GCST010050_1 | Adiponectin levels | 2.000000e-07 |
| GCST90002401_442 | Platelet distribution width | 1.000000e-12 |
| GCST90002402_306 | Platelet count | 3.000000e-13 |
| GCST90020029_1169 | Waist circumference adjusted for body mass index | 6.000000e-12 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008336 | disease progression measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0004502 | adiponectin measurement |
| EFO:0007984 | platelet component distribution width |
| EFO:0004309 | platelet count |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2321637 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 5 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Leflunomide | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | decreases expression, affects binding | 1 |
| Demecolcine | increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phenobarbital | affects expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2330549 | Binding | Inhibition of human Kif9 at 200 uM | Optimized S-trityl-L-cysteine-based inhibitors of kinesin spindle protein with potent in vivo antitumor activity in lung cancer xenograft models. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Huntington disease, Luscan-Lumish syndrome