KIF2B
gene geneOn this page
Summary
KIF2B (kinesin family member 2B, HGNC:29443) is a protein-coding gene on chromosome 17q22, encoding Kinesin-like protein KIF2B (Q8N4N8). Plus end-directed microtubule-dependent motor required for spindle assembly and chromosome movement.
Predicted to enable ATP hydrolysis activity; microtubule binding activity; and microtubule motor activity. Involved in metaphase chromosome alignment; microtubule depolymerization; and regulation of chromosome segregation. Predicted to be located in cytosol. Predicted to be part of kinesin complex. Predicted to be active in cytoplasm and microtubule cytoskeleton.
Source: NCBI Gene 84643 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 112 total
- MANE Select transcript:
NM_032559
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29443 |
| Approved symbol | KIF2B |
| Name | kinesin family member 2B |
| Location | 17q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000141200 |
| Ensembl biotype | protein_coding |
| OMIM | 615142 |
| Entrez | 84643 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000268919
RefSeq mRNA: 1 — MANE Select: NM_032559
NM_032559
CCDS: CCDS32685
Canonical transcript exons
ENST00000268919 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000946998 | 53822927 | 53825193 |
Expression profiles
Bgee: expression breadth broad, 21 present calls, max score 97.86.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4073 / max 447.9274, expressed in 8 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 161756 | 0.3947 | 6 |
| 161758 | 0.0084 | 3 |
| 161757 | 0.0042 | 3 |
Top tissues by expression
228 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 97.86 | gold quality |
| left testis | UBERON:0004533 | 94.06 | gold quality |
| right testis | UBERON:0004534 | 93.74 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.33 | gold quality |
| testis | UBERON:0000473 | 91.54 | gold quality |
| adult organism | UBERON:0007023 | 84.08 | gold quality |
| tibialis anterior | UBERON:0001385 | 60.55 | silver quality |
| pancreatic ductal cell | CL:0002079 | 59.43 | silver quality |
| deltoid | UBERON:0001476 | 57.46 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 54.58 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 54.23 | gold quality |
| kidney epithelium | UBERON:0004819 | 53.93 | gold quality |
| upper arm skin | UBERON:0004263 | 53.52 | gold quality |
| ileal mucosa | UBERON:0000331 | 51.23 | silver quality |
| myocardium | UBERON:0002349 | 50.25 | gold quality |
| cerebellar vermis | UBERON:0004720 | 49.72 | gold quality |
| quadriceps femoris | UBERON:0001377 | 48.21 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 47.03 | gold quality |
| vastus lateralis | UBERON:0001379 | 45.66 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 43.55 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| secondary oocyte | CL:0000655 | 42.57 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 42.55 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 42.39 | gold quality |
| muscle tissue | UBERON:0002385 | 42.26 | gold quality |
| thymus | UBERON:0002370 | 41.42 | gold quality |
| superficial temporal artery | UBERON:0001614 | 41.33 | gold quality |
| colonic epithelium | UBERON:0000397 | 41.32 | gold quality |
| upper leg skin | UBERON:0004262 | 41.21 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.48 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
16 targeting KIF2B, 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-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-486-5P | 99.51 | 70.39 | 707 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-223-5P | 99.24 | 68.82 | 1206 |
| HSA-MIR-4520-2-3P | 99.14 | 69.28 | 1009 |
| HSA-MIR-3074-5P | 98.82 | 66.56 | 1414 |
| HSA-MIR-4520-3P | 98.75 | 66.55 | 963 |
| HSA-MIR-6511A-5P | 98.13 | 67.47 | 1770 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-4418 | 97.04 | 67.16 | 1372 |
Literature-anchored findings (GeneRIF, showing 9)
- when microtubules are absent, the neck linker exists in equilibrium between two structural states; microtubule binding may activate the nucleotide-sensing mechanism of kinesin (PMID:12368902)
- kinesin-I-dependent neuronal AbetaPP transport, which controls AbetaPP processing, may be regulated by JIP1 (PMID:12893827)
- These data demonstrate that Kif2b function is required for spindle assembly and chromosome movement and that the microtubule depolymerase activities of Kif2a, Kif2b, and MCAK fulfill distinct functions during mitosis in human cells. (PMID:17538014)
- Here we show that two microtubule-depolymerizing kinesins, Kif2b and MCAK, stimulate kinetochore-microtubule dynamics during distinct phases of mitosis to correct mal-orientations. (PMID:19060894)
- Data show that CLASP1-astrin-Kif2b complex acts as a central switch at kinetochores that defines mitotic progression and promotes fidelity by temporally regulating kinetochore-microtuble attachments. (PMID:20852589)
- Data show that Polo-like kinase 1 (Plk1) regulates both the localization and activity of kinesin-13 protein Kif2b during mitosis to promote the correction of k-MT attachment errors to ensure mitotic fidelity. (PMID:22535524)
- Data indicate that Cep170 association with the C-terminus of Kif2b enhances localization of Kif2b to the spindle. (PMID:23087211)
- GSK3beta-SKAP-Kif2b signaling axis constitutes a dynamic link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division. (PMID:27982129)
- Chromosomal instability suppresses the growth of K-Ras-induced lung adenomas. (PMID:31179849)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Kif2b | ENSMUSG00000046755 |
| rattus_norvegicus | Kif2b | ENSRNOG00000086201 |
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), 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 KIF2B — Q8N4N8 (reviewed: Q8N4N8)
All UniProt accessions (2): A0A140VKG5, Q8N4N8
UniProt curated annotations — full annotation on UniProt →
Function. Plus end-directed microtubule-dependent motor required for spindle assembly and chromosome movement. Has microtubule depolymerization activity. Plays a role in chromosome congression.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle. Chromosome. Centromere. Kinetochore.
Tissue specificity. Highest level in lung. High level in ovary, moderate levels in heart, kidney, placenta, skeletal muscle and spleen (at protein level). Pancreas and spleen express a shorter isoform (at protein level).
Post-translational modifications. Phosphorylation at Thr-125 by PLK1 is required for activity in the correction of kinetochore-microtubules attachment errors, while phosphorylation at Ser-204 also by PLK1 is required for the kinetochore localization and activity in prometaphase.
Miscellaneous. Osteosarcoma cells (U2OS) lacking KIF2B show disorganised often monopolar mitotic spindles, severely reduced velocity of chromosome movement and blocked cytokinesis. Bipolar mitotic spindles can be restored by simultaneous depletion of KIF2B, KIFC1 and NUMA1.
Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MCAK/KIF2 subfamily.
RefSeq proteins (1): NP_115948* (*=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 |
| IPR054473 | KIF2A-like_N | Domain |
Pfam: PF00225, PF22923
UniProt features (19 total): sequence conflict 7, sequence variant 5, coiled-coil region 2, modified residue 2, chain 1, domain 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N4N8-F1 | 72.93 | 0.34 |
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): 303–310
Post-translational modifications (2): 125, 204
Function
Pathways and Gene Ontology
Reactome pathways
29 pathways
| ID | Pathway |
|---|---|
| R-HSA-141444 | Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal |
| R-HSA-2132295 | MHC class II antigen presentation |
| R-HSA-2467813 | Separation of Sister Chromatids |
| R-HSA-2500257 | Resolution of Sister Chromatid Cohesion |
| R-HSA-5663220 | RHO GTPases Activate Formins |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-68877 | Mitotic Prometaphase |
| R-HSA-9648025 | EML4 and NUDC in mitotic spindle formation |
| R-HSA-983189 | Kinesins |
| R-HSA-109582 | Hemostasis |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-141424 | Amplification of signal from the kinetochores |
| R-HSA-162582 | Signal Transduction |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-168256 | Immune System |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-195258 | RHO GTPase Effectors |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-2555396 | Mitotic Metaphase and Anaphase |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| R-HSA-68882 | Mitotic Anaphase |
| R-HSA-68886 | M Phase |
| R-HSA-69278 | Cell Cycle, Mitotic |
| R-HSA-69618 | Mitotic Spindle Checkpoint |
| R-HSA-69620 | Cell Cycle Checkpoints |
| R-HSA-8856688 | Golgi-to-ER retrograde transport |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
| R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
MSigDB gene sets: 105 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_CHROMOSOME_LOCALIZATION, GOCC_KINESIN_COMPLEX, REACTOME_MEMBRANE_TRAFFICKING, HATADA_METHYLATED_IN_LUNG_CANCER_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_MICROTUBULE_DEPOLYMERIZATION, GOBP_REGULATION_OF_CHROMOSOME_SEGREGATION, OCT1_03, GOBP_REGULATION_OF_CELL_CYCLE, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOCC_CENTROSOME, AFP1_Q6, GOBP_PROTEIN_DEPOLYMERIZATION, GOBP_REGULATION_OF_CELL_CYCLE_PROCESS
GO Biological Process (5): microtubule-based movement (GO:0007018), microtubule depolymerization (GO:0007019), cell division (GO:0051301), metaphase chromosome alignment (GO:0051310), regulation of chromosome segregation (GO:0051983)
GO Molecular Function (6): 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)
GO Cellular Component (10): kinetochore (GO:0000776), cytoplasm (GO:0005737), centrosome (GO:0005813), spindle (GO:0005819), cytosol (GO:0005829), kinesin complex (GO:0005871), microtubule (GO:0005874), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-13 pathways:
| Category | Pathways |
|---|---|
| Mitotic Prometaphase | 2 |
| M Phase | 2 |
| Amplification of signal from the kinetochores | 1 |
| Adaptive Immune System | 1 |
| Mitotic Anaphase | 1 |
| RHO GTPase Effectors | 1 |
| Golgi-to-ER retrograde transport | 1 |
| Factors involved in megakaryocyte development and platelet production | 1 |
| Immune System | 1 |
| Mitotic Spindle Checkpoint | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Vesicle-mediated transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 4 |
| ATP-dependent activity | 2 |
| cellular anatomical structure | 2 |
| microtubule cytoskeleton | 2 |
| microtubule-based process | 1 |
| microtubule polymerization or depolymerization | 1 |
| protein depolymerization | 1 |
| supramolecular fiber organization | 1 |
| cellular process | 1 |
| chromosome localization | 1 |
| nuclear chromosome segregation | 1 |
| chromosome segregation | 1 |
| regulation of cell cycle process | 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 |
| condensed chromosome, centromeric region | 1 |
| supramolecular complex | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| microtubule associated complex | 1 |
| polymeric cytoskeletal fiber | 1 |
| chromosomal region | 1 |
Protein interactions and networks
STRING
1230 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KIF2B | CLASP1 | Q7Z460 | 901 |
| KIF2B | CEP170 | Q5SW79 | 788 |
| KIF2B | AURKB | Q96GD4 | 599 |
| KIF2B | NDC80 | O14777 | 544 |
| KIF2B | BUB1 | O43683 | 527 |
| KIF2B | PLK1 | P53350 | 520 |
| KIF2B | CAMKMT | Q7Z624 | 509 |
| KIF2B | SPAG5 | Q96R06 | 506 |
| KIF2B | DYNLL2 | Q96FJ2 | 498 |
| KIF2B | BUB1B | O60566 | 469 |
| KIF2B | CKAP5 | Q14008 | 461 |
| KIF2B | CLASP2 | O75122 | 453 |
| KIF2B | CLASRP | Q8N2M8 | 447 |
| KIF2B | KNSTRN | Q9Y448 | 447 |
| KIF2B | FAM227B | Q96M60 | 444 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIF2B | rep | psi-mi:“MI:0915”(physical association) | 0.550 |
| KIF2B | BACH1 | psi-mi:“MI:0914”(association) | 0.530 |
| KIF2B | H1-5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KIF2B | BICD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KIF2B | STAU1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | URB1 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF2B | HERC2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (90): SIKE1 (Affinity Capture-MS), DAPK3 (Affinity Capture-MS), CEP170B (Affinity Capture-MS), SAV1 (Affinity Capture-MS), BACH1 (Affinity Capture-MS), SPC25 (Affinity Capture-MS), TXLNG (Affinity Capture-MS), KLC4 (Affinity Capture-MS), CEP170 (Affinity Capture-MS), STK3 (Affinity Capture-MS), HOMER1 (Affinity Capture-MS), MIS12 (Affinity Capture-MS), CCDC22 (Affinity Capture-MS), VPS8 (Affinity Capture-MS), KLC1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8GXY4, A0A1L8I2C5, A1A5R7, A6PWY4, A9X1C6, B1ANS9, B2KIQ4, D3Z3I0, E9Q7R9, F1QHZ6, O13286, O74845, O94411, P26309, P43254, P51956, P93471, Q09786, Q4V837, Q5R6T6, Q5TKR9, Q5XHI9, Q5ZKI7, Q6DTM3, Q6GM71, Q6GPU3, Q6VZ17, Q7Z2W4, Q80Z32, Q86VD1, Q86Y33, Q8BZ21, Q8CDP0, Q8K3E5, Q8L4H0, Q8N157, Q8N4N8, Q8NA75, Q8NDM7, Q8NEM8
Diamond homologs: A0A068FIK2, A1ZAJ2, A6H750, A8BKD1, B7EJ91, B7ZNG0, B9EY52, B9F2Y7, B9F7C8, B9FMJ3, E2RTQ2, F1M4A4, F4ICA0, F4IIS5, F4K0J3, L0N7N1, O00139, O14343, O15066, O23826, O35071, O35787, O43896, O45935, O59751, O60282, O95239, P21613, P23678, P28740, P28741, P33173, P33174, P33176, P46863, P46867, P46874, P53086, P70096, P82266
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PLK1 | “up-regulates activity” | KIF2B | phosphorylation |
| KIF2B | down-regulates | Mitotic_checkpoint | |
| KNSTRN | “down-regulates activity” | KIF2B | relocalization |
| KIF2B | up-regulates | “Minus-end directed microtubule movement” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
112 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 102 |
| Likely benign | 8 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
18 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:53823727:GACC:G | donor_gain | 0.2800 |
| 17:53823950:G:T | donor_gain | 0.2700 |
| 17:53823950:G:GT | donor_gain | 0.2600 |
| 17:53824967:T:TA | acceptor_gain | 0.2600 |
| 17:53823690:G:GT | donor_gain | 0.2300 |
| 17:53823989:G:GT | donor_gain | 0.2300 |
| 17:53824917:TG:T | donor_gain | 0.2300 |
| 17:53824918:GG:G | donor_gain | 0.2300 |
| 17:53824228:G:GT | donor_gain | 0.2100 |
| 17:53823866:T:A | donor_gain | 0.2000 |
| 17:53824190:T:TA | donor_loss | 0.2000 |
| 17:53824208:AAGAG:A | donor_loss | 0.2000 |
| 17:53824209:AGAGG:A | donor_loss | 0.2000 |
| 17:53824210:GAGGT:G | donor_loss | 0.2000 |
| 17:53824211:AGGT:A | donor_loss | 0.2000 |
| 17:53824212:GGTG:G | donor_loss | 0.2000 |
| 17:53824213:GTGT:G | donor_loss | 0.2000 |
| 17:53824214:T:G | donor_loss | 0.2000 |
AlphaMissense
4428 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:53823871:T:G | Y280D | 0.977 |
| 17:53823928:T:C | C299R | 0.974 |
| 17:53824642:G:C | A537P | 0.974 |
| 17:53823690:G:C | R219S | 0.969 |
| 17:53823690:G:T | R219S | 0.969 |
| 17:53823823:T:C | F264L | 0.967 |
| 17:53823825:C:A | F264L | 0.967 |
| 17:53823825:C:G | F264L | 0.967 |
| 17:53824643:C:A | A537E | 0.964 |
| 17:53823829:T:C | F266L | 0.960 |
| 17:53823831:C:A | F266L | 0.960 |
| 17:53823831:C:G | F266L | 0.960 |
| 17:53823884:C:A | A284D | 0.960 |
| 17:53823680:T:A | V216D | 0.956 |
| 17:53823170:T:A | V46D | 0.955 |
| 17:53824042:T:C | F337L | 0.955 |
| 17:53824044:T:A | F337L | 0.955 |
| 17:53824044:T:G | F337L | 0.955 |
| 17:53823841:T:C | F270L | 0.954 |
| 17:53823843:C:A | F270L | 0.954 |
| 17:53823843:C:G | F270L | 0.954 |
| 17:53823211:T:A | W60R | 0.950 |
| 17:53823211:T:C | W60R | 0.950 |
| 17:53824513:T:C | F494L | 0.946 |
| 17:53824515:C:A | F494L | 0.946 |
| 17:53824515:C:G | F494L | 0.946 |
| 17:53823164:C:A | A44D | 0.945 |
| 17:53824355:G:A | G441D | 0.943 |
| 17:53823200:T:A | V56D | 0.939 |
| 17:53823931:T:C | F300L | 0.939 |
dbSNP variants (sampled 300 via entrez): RS1001128863 (17:53824145 A>C,T), RS1005210451 (17:53822730 T>A,C), RS1005264267 (17:53822516 G>T), RS1006226691 (17:53825277 C>A,T), RS1007481877 (17:53821652 T>C), RS1007884592 (17:53821254 T>C), RS1008113239 (17:53823997 C>A,G,T), RS1009148564 (17:53822694 A>G), RS1009572223 (17:53822893 C>T), RS1009696541 (17:53824369 G>A,C,T), RS1010756273 (17:53825504 A>G), RS1011405161 (17:53821598 A>G,T), RS1012633958 (17:53822465 A>C), RS1012681383 (17:53822188 G>A), RS1014012793 (17:53822014 A>G)
Disease associations
OMIM: gene MIM:615142 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003992_21 | Photic sneeze reflex | 2.000000e-08 |
| GCST009379_210 | Type 2 diabetes | 2.000000e-08 |
| GCST009391_121 | Metabolite levels | 8.000000e-06 |
| GCST009391_1213 | Metabolite levels | 1.000000e-07 |
| GCST009391_1846 | Metabolite levels | 4.000000e-06 |
| GCST009391_275 | Metabolite levels | 1.000000e-06 |
| GCST009391_315 | Metabolite levels | 8.000000e-06 |
| GCST009391_949 | Metabolite levels | 2.000000e-06 |
| GCST010151_28 | Carotid intima media thickness x smoking interaction | 4.000000e-06 |
| GCST010988_63 | Adult body size | 3.000000e-08 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007887 | autosomal dominant compelling helio-ophthalmic outburst syndrome |
| EFO:0010354 | diacylglycerol 36:1 measurement |
| EFO:0010420 | triacylglycerol 54:2 measurement |
| EFO:0010413 | triacylglycerol 52:1 measurement |
| EFO:0010429 | triacylglycerol 56:2 measurement |
| EFO:0010430 | triacylglycerol 56:3 measurement |
| EFO:0010403 | triacylglycerol 48:0 measurement |
| EFO:0006527 | smoking status measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
2 total (human), top 2 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 2 |
| Methotrexate | increases expression | 1 |
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.