KIF4B
gene geneOn this page
Summary
KIF4B (kinesin family member 4B, HGNC:6322) is a protein-coding gene on chromosome 5q33.2, encoding Chromosome-associated kinesin KIF4B (Q2VIQ3). Iron-sulfur (Fe-S) cluster binding motor protein that has a role in chromosome segregation during mitosis.
This gene is an intronless retrocopy of kinesin family member 4A. The protein encoded by this gene is a microtubule-based motor protein that plays vital roles in anaphase spindle dynamics and cytokinesis.
Source: NCBI Gene 285643 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 194 total
- MANE Select transcript:
NM_001099293
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6322 |
| Approved symbol | KIF4B |
| Name | kinesin family member 4B |
| Location | 5q33.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000226650 |
| Ensembl biotype | protein_coding |
| OMIM | 609184 |
| Entrez | 285643 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000435029
RefSeq mRNA: 1 — MANE Select: NM_001099293
NM_001099293
CCDS: CCDS47324
Canonical transcript exons
ENST00000435029 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001805089 | 155013755 | 155018141 |
Expression profiles
Bgee: expression breadth tissue_specific, 6 present calls, max score 72.17.
Top tissues by expression
128 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 72.17 | gold quality |
| testis | UBERON:0000473 | 56.39 | gold quality |
| left testis | UBERON:0004533 | 55.53 | gold quality |
| ventricular zone | UBERON:0003053 | 54.37 | gold quality |
| right testis | UBERON:0004534 | 53.89 | gold quality |
| sural nerve | UBERON:0015488 | 47.15 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 44.22 | gold quality |
| ganglionic eminence | UBERON:0004023 | 43.86 | gold quality |
| muscle tissue | UBERON:0002385 | 42.30 | gold quality |
| colonic epithelium | UBERON:0000397 | 41.34 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 40.53 | gold quality |
| cortical plate | UBERON:0005343 | 39.91 | gold quality |
| bone marrow cell | CL:0002092 | 39.80 | gold quality |
| stromal cell of endometrium | CL:0002255 | 39.01 | gold quality |
| bone marrow | UBERON:0002371 | 38.91 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 38.70 | gold quality |
| tonsil | UBERON:0002372 | 37.77 | gold quality |
| placenta | UBERON:0001987 | 37.74 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 37.71 | gold quality |
| vermiform appendix | UBERON:0001154 | 37.67 | gold quality |
| prefrontal cortex | UBERON:0000451 | 36.64 | gold quality |
| granulocyte | CL:0000094 | 34.88 | gold quality |
| lymph node | UBERON:0000029 | 33.27 | gold quality |
| cerebellar cortex | UBERON:0002129 | 33.04 | gold quality |
| cerebellum | UBERON:0002037 | 33.00 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 32.92 | gold quality |
| leukocyte | CL:0000738 | 32.73 | gold quality |
| monocyte | CL:0000576 | 32.69 | gold quality |
| frontal cortex | UBERON:0001870 | 32.57 | gold quality |
| duodenum | UBERON:0002114 | 32.41 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.42 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting KIF4B, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-6803-5P | 99.19 | 63.90 | 1026 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-4451 | 98.82 | 68.17 | 1455 |
| HSA-MIR-942-3P | 98.81 | 69.04 | 876 |
| HSA-MIR-767-3P | 98.61 | 67.69 | 1192 |
| HSA-MIR-1178-3P | 98.57 | 67.09 | 890 |
| HSA-MIR-1248 | 98.47 | 67.54 | 1314 |
| HSA-MIR-6792-5P | 98.39 | 68.16 | 1330 |
| HSA-MIR-4665-5P | 97.91 | 67.69 | 1536 |
| HSA-MIR-4724-3P | 97.57 | 67.31 | 785 |
| HSA-MIR-937-5P | 97.43 | 68.39 | 667 |
| HSA-MIR-2278 | 97.30 | 66.19 | 1130 |
| HSA-MIR-6729-3P | 96.91 | 66.79 | 703 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Kif4-ps | ENSMUSG00000092054 |
| rattus_norvegicus | Kif4b | ENSRNOG00000064692 |
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), KIF27 (ENSG00000165115), KIF7 (ENSG00000166813), KIFC2 (ENSG00000167702), KIF5C (ENSG00000168280), KIF5B (ENSG00000170759), KIF18B (ENSG00000186185), KIF24 (ENSG00000186638), KIF19 (ENSG00000196169), KIF13B (ENSG00000197892)
Protein
Protein identifiers
Chromosome-associated kinesin KIF4B — Q2VIQ3 (reviewed: Q2VIQ3)
Alternative names: Chromokinesin-B
All UniProt accessions (1): Q2VIQ3
UniProt curated annotations — full annotation on UniProt →
Function. Iron-sulfur (Fe-S) cluster binding motor protein that has a role in chromosome segregation during mitosis. Translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization.
Subcellular location. Nucleus matrix. Cytoplasm. Cytoskeleton.
Tissue specificity. Specifically expressed in testis.
Cofactor. Binds 1 [4Fe-4S] cluster. In the presence of oxygen, the [4Fe-4S] cluster may be converted to [2Fe-2S].
Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Chromokinesin subfamily.
RefSeq proteins (1): NP_001092763* (*=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 |
| IPR033467 | Tesmin/TSO1-like_CXC | Domain |
| IPR036961 | Kinesin_motor_dom_sf | Homologous_superfamily |
Pfam: PF00225, PF25764
UniProt features (49 total): sequence conflict 15, modified residue 12, region of interest 9, sequence variant 4, compositionally biased region 3, chain 1, domain 1, coiled-coil region 1, short sequence motif 1, binding site 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q2VIQ3-F1 | 71.87 | 0.20 |
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): 88–95
Post-translational modifications (13): 394, 799, 801, 951, 1001, 1013, 1017, 1028, 1128, 1183, 1188, 1227, 1196
Function
Pathways and Gene Ontology
Reactome pathways
16 pathways
| ID | Pathway |
|---|---|
| R-HSA-2132295 | MHC class II antigen presentation |
| R-HSA-437239 | Recycling pathway of L1 |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-983189 | Kinesins |
| R-HSA-109582 | Hemostasis |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-373760 | L1CAM interactions |
| R-HSA-422475 | Axon guidance |
| 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-9675108 | Nervous system development |
| R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
MSigDB gene sets: 72 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, GOBP_MITOTIC_CYTOKINESIS, GOBP_CHROMOSOME_ORGANIZATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_MEMBRANE_TRAFFICKING, GOBP_MITOTIC_SPINDLE_ASSEMBLY, GOBP_ORGANELLE_FISSION, GOBP_CYTOKINESIS, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_ORGANELLE_ASSEMBLY, GOBP_MITOTIC_CELL_CYCLE, GOBP_SPINDLE_ASSEMBLY, GOBP_NUCLEAR_CHROMOSOME_SEGREGATION, GOBP_CYTOSKELETON_DEPENDENT_CYTOKINESIS
GO Biological Process (5): mitotic cytokinesis (GO:0000281), microtubule-based movement (GO:0007018), mitotic spindle organization (GO:0007052), spindle elongation (GO:0051231), mitotic spindle midzone assembly (GO:0051256)
GO Molecular Function (7): DNA binding (GO:0003677), microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), metal ion binding (GO:0046872), iron-sulfur cluster binding (GO:0051536), nucleotide binding (GO:0000166)
GO Cellular Component (7): cytosol (GO:0005829), microtubule (GO:0005874), microtubule associated complex (GO:0005875), nuclear matrix (GO:0016363), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-12 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| L1CAM interactions | 1 |
| Golgi-to-ER retrograde transport | 1 |
| Factors involved in megakaryocyte development and platelet production | 1 |
| Immune System | 1 |
| Vesicle-mediated transport | 1 |
| Axon guidance | 1 |
| Nervous system development | 1 |
| Membrane Trafficking | 1 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
| Developmental Biology | 1 |
| Hemostasis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| mitotic cell cycle | 2 |
| mitotic cell cycle process | 2 |
| microtubule-based process | 2 |
| spindle organization | 2 |
| microtubule cytoskeleton | 2 |
| cytoskeleton-dependent cytokinesis | 1 |
| microtubule cytoskeleton organization involved in mitosis | 1 |
| cell cycle process | 1 |
| nuclear chromosome segregation | 1 |
| mitotic spindle elongation | 1 |
| spindle midzone assembly | 1 |
| mitotic spindle assembly | 1 |
| mitotic nuclear division | 1 |
| nucleic acid binding | 1 |
| cytoskeletal motor activity | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
| ATP-dependent activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| tubulin binding | 1 |
| cation binding | 1 |
| metal cluster binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| cytoplasm | 1 |
| polymeric cytoskeletal fiber | 1 |
| protein-containing complex | 1 |
| nuclear lumen | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
912 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KIF4B | GMCL2 | Q8NEA9 | 494 |
| KIF4B | MAPRE1 | Q15691 | 473 |
| KIF4B | TRIP6 | Q15654 | 435 |
| KIF4B | ZNF784 | Q8NCA9 | 413 |
| KIF4B | AMDHD1 | Q96NU7 | 370 |
| KIF4B | KIF2C | Q99661 | 368 |
| KIF4B | SKA3 | Q8IX90 | 363 |
| KIF4B | RAC1 | P15154 | 349 |
| KIF4B | PRC1 | O43663 | 342 |
| KIF4B | GMCL1 | Q96IK5 | 340 |
| KIF4B | KIF22 | Q14807 | 335 |
| KIF4B | DYNLT1 | P63172 | 317 |
| KIF4B | CDC14B | O60729 | 314 |
| KIF4B | KIFAP3 | Q92845 | 303 |
| KIF4B | ZNF492 | Q9P255 | 301 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIF4B | SMC2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KIF4B | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HDAC2 | KIF4B | psi-mi:“MI:0915”(physical association) | 0.400 |
| KIF4B | KIF4A | psi-mi:“MI:0915”(physical association) | 0.400 |
| Kif4 | UMPS | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| S | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| ARMC6 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| SFN | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| VENTX | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| SF3B1 | FAM83G | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (17): KIF4B (Co-fractionation), KIF4B (Affinity Capture-MS), HDAC2 (Proximity Label-MS), KIF4B (Proximity Label-MS), HIST1H2BH (Proximity Label-MS), KIF4B (Affinity Capture-MS), KIF4B (Proximity Label-MS), KIF4A (Affinity Capture-MS), KIF4B (Affinity Capture-MS), KIF4B (Proximity Label-MS), KIF4B (Affinity Capture-MS), KIF4B (Affinity Capture-MS), KIF4B (Reconstituted Complex), KIF4B (Affinity Capture-MS), STMN1 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0JN40, B1AVY7, B9F2Y7, F1M4A4, F1M5N7, F4K0J3, O14782, O15066, O35066, O55165, O60282, O75037, O95239, P17210, P21613, P28738, P33173, P33174, P33175, P33176, P34540, P56536, Q12756, Q12840, Q2PQA9, Q2VIQ3, Q498L9, Q58G59, Q5R706, Q5R9K7, Q61768, Q6P9L6, Q6QLM7, Q7M6Z4, Q7M6Z5, Q7TSP2, Q7Z4S6, Q86VH2, Q90640, Q91784
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
194 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 167 |
| Likely benign | 13 |
| Benign | 14 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
31 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:155013773:TTA:T | donor_gain | 0.6100 |
| 5:155013866:G:GT | donor_gain | 0.4400 |
| 5:155013821:G:T | donor_gain | 0.4000 |
| 5:155013873:TG:T | donor_gain | 0.3900 |
| 5:155013982:G:GA | donor_gain | 0.3500 |
| 5:155014214:A:AG | donor_gain | 0.3400 |
| 5:155013821:G:GT | donor_gain | 0.3300 |
| 5:155013981:T:TA | donor_gain | 0.3300 |
| 5:155013891:G:GT | donor_gain | 0.3000 |
| 5:155014637:GGTAT:G | donor_gain | 0.2900 |
| 5:155013794:G:GT | donor_gain | 0.2800 |
| 5:155013886:T:G | donor_gain | 0.2800 |
| 5:155013875:AAG:A | donor_gain | 0.2700 |
| 5:155014641:T:TG | donor_gain | 0.2700 |
| 5:155013769:GCGGT:G | donor_gain | 0.2600 |
| 5:155013887:G:GG | donor_gain | 0.2600 |
| 5:155013772:GT:G | donor_gain | 0.2400 |
| 5:155013773:T:G | donor_gain | 0.2300 |
| 5:155013801:G:GT | donor_gain | 0.2200 |
| 5:155013983:GTG:G | donor_gain | 0.2200 |
| 5:155013988:T:A | donor_gain | 0.2200 |
| 5:155014764:G:GT | donor_gain | 0.2200 |
| 5:155017439:GA:G | acceptor_gain | 0.2200 |
| 5:155013815:AACGG:A | donor_gain | 0.2100 |
| 5:155013822:A:T | donor_gain | 0.2100 |
| 5:155013876:A:G | donor_gain | 0.2100 |
| 5:155013889:AAG:A | donor_gain | 0.2100 |
| 5:155013890:AGA:A | donor_gain | 0.2100 |
| 5:155014635:A:T | donor_gain | 0.2000 |
| 5:155017438:A:AG | acceptor_gain | 0.2000 |
AlphaMissense
8200 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:155014121:G:T | G88W | 0.998 |
| 5:155014122:G:A | G88E | 0.998 |
| 5:155014584:C:A | A242D | 0.998 |
| 5:155014659:T:C | L267P | 0.998 |
| 5:155014799:A:C | S314R | 0.998 |
| 5:155014801:T:A | S314R | 0.998 |
| 5:155014801:T:G | S314R | 0.998 |
| 5:155014122:G:T | G88V | 0.997 |
| 5:155014140:A:T | K94I | 0.997 |
| 5:155014440:G:A | G194D | 0.997 |
| 5:155014581:T:C | L241P | 0.997 |
| 5:155014587:G:A | G243E | 0.997 |
| 5:155014637:G:C | G260R | 0.997 |
| 5:155014730:T:C | S291P | 0.997 |
| 5:155014848:C:A | A330D | 0.997 |
| 5:155014121:G:A | G88R | 0.996 |
| 5:155014121:G:C | G88R | 0.996 |
| 5:155014439:G:C | G194R | 0.996 |
| 5:155014586:G:A | G243R | 0.996 |
| 5:155014586:G:C | G243R | 0.996 |
| 5:155014651:C:A | N264K | 0.996 |
| 5:155014651:C:G | N264K | 0.996 |
| 5:155014668:T:C | L270S | 0.996 |
| 5:155014725:G:C | R289T | 0.996 |
| 5:155014725:G:T | R289I | 0.996 |
| 5:155014726:A:C | R289S | 0.996 |
| 5:155014726:A:T | R289S | 0.996 |
| 5:155014743:G:C | R295P | 0.996 |
| 5:155014791:C:A | A311D | 0.996 |
| 5:155014116:C:A | A86D | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000223141 (5:155017800 C>A), RS1001077102 (5:155011850 G>A), RS1001102102 (5:155012565 G>A), RS1001731540 (5:155018372 C>A,G,T), RS1003572806 (5:155016147 A>G), RS1004932391 (5:155017120 G>T), RS1005061512 (5:155015779 A>G), RS1005279093 (5:155015538 A>G), RS1005342836 (5:155015852 A>G), RS1005398272 (5:155017416 C>T), RS10056252 (5:155015910 A>G), RS1006951262 (5:155012626 T>C), RS1007290681 (5:155013220 T>C), RS1007995188 (5:155018310 G>A,T), RS1008594323 (5:155017850 A>G)
Disease associations
OMIM: gene MIM:609184 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002976_6 | HIV-1 viral setpoint | 8.000000e-06 |
| GCST005782_2 | Serum 25-Hydroxyvitamin D levels | 3.000000e-08 |
| GCST011116_7 | Coronary artery disease in type 1 diabetes | 9.000000e-07 |
| GCST011703_72 | Smoking initiation | 2.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006319 | HIV viral set point measurement |
| EFO:0005670 | smoking initiation |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
8 total (human), top 8 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | affects expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Lucanthone | decreases expression | 1 |
| Urethane | 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.