KIF19
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Also known as FLJ37300KIF19A
Summary
KIF19 (kinesin family member 19, HGNC:26735) is a protein-coding gene on chromosome 17q25.1, encoding Kinesin-like protein KIF19 (Q2TAC6). Plus end-directed microtubule-dependent motor protein that regulates the length of motile cilia by mediating depolymerization of microtubules at ciliary tips.
Predicted to enable ATP hydrolysis activity; microtubule binding activity; and plus-end-directed microtubule motor activity. Predicted to be involved in axonemal microtubule depolymerization; microtubule-based movement; and plus-end specific microtubule depolymerization. Predicted to be located in cilium. Predicted to be part of kinesin complex. Predicted to be active in cytoplasm and microtubule.
Source: NCBI Gene 124602 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 228 total — 1 pathogenic
- MANE Select transcript:
NM_153209
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26735 |
| Approved symbol | KIF19 |
| Name | kinesin family member 19 |
| Location | 17q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ37300, KIF19A |
| Ensembl gene | ENSG00000196169 |
| Ensembl biotype | protein_coding |
| OMIM | 619610 |
| Entrez | 124602 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 28 protein_coding, 4 retained_intron
ENST00000359939, ENST00000389916, ENST00000547389, ENST00000549637, ENST00000551017, ENST00000551294, ENST00000894664, ENST00000894665, ENST00000894666, ENST00000894667, ENST00000894668, ENST00000894669, ENST00000894670, ENST00000894671, ENST00000894672, ENST00000894673, ENST00000894674, ENST00000894675, ENST00000894676, ENST00000894677, ENST00000894678, ENST00000894679, ENST00000894680, ENST00000894681, ENST00000894682, ENST00000894683, ENST00000894684, ENST00000894685, ENST00000894686, ENST00000894687, ENST00000894688, ENST00000962457
RefSeq mRNA: 1 — MANE Select: NM_153209
NM_153209
CCDS: CCDS32718
Canonical transcript exons
ENST00000389916 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001351619 | 74326226 | 74326388 |
| ENSE00001555466 | 74355182 | 74355820 |
| ENSE00001631628 | 74352821 | 74352954 |
| ENSE00001636641 | 74354782 | 74354941 |
| ENSE00001652317 | 74353196 | 74353301 |
| ENSE00001658929 | 74353494 | 74353581 |
| ENSE00001718033 | 74351867 | 74352137 |
| ENSE00001735188 | 74352219 | 74352340 |
| ENSE00001755601 | 74350707 | 74350905 |
| ENSE00001758070 | 74354162 | 74354559 |
| ENSE00003466051 | 74349184 | 74349349 |
| ENSE00003510417 | 74347777 | 74347899 |
| ENSE00003513976 | 74344223 | 74344348 |
| ENSE00003517562 | 74346378 | 74346524 |
| ENSE00003554979 | 74350401 | 74350575 |
| ENSE00003571680 | 74344761 | 74344955 |
| ENSE00003617528 | 74342630 | 74342717 |
| ENSE00003621276 | 74343024 | 74343160 |
| ENSE00003630890 | 74328425 | 74328505 |
| ENSE00003656029 | 74341876 | 74341986 |
Expression profiles
Bgee: expression breadth ubiquitous, 159 present calls, max score 94.86.
FANTOM5 (CAGE): breadth broad, TPM avg 1.7770 / max 139.6221, expressed in 367 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 162597 | 1.6972 | 356 |
| 162596 | 0.0798 | 26 |
Top tissues by expression
240 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 94.86 | gold quality |
| sural nerve | UBERON:0015488 | 94.44 | gold quality |
| tibial nerve | UBERON:0001323 | 93.20 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 86.73 | gold quality |
| spleen | UBERON:0002106 | 81.43 | gold quality |
| granulocyte | CL:0000094 | 79.67 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 75.28 | gold quality |
| hypothalamus | UBERON:0001898 | 75.26 | gold quality |
| amygdala | UBERON:0001876 | 74.12 | gold quality |
| caudate nucleus | UBERON:0001873 | 73.97 | gold quality |
| putamen | UBERON:0001874 | 73.96 | gold quality |
| spinal cord | UBERON:0002240 | 72.13 | gold quality |
| bronchial epithelial cell | CL:0002328 | 72.00 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 71.74 | gold quality |
| buccal mucosa cell | CL:0002336 | 71.68 | silver quality |
| substantia nigra | UBERON:0002038 | 70.87 | gold quality |
| bronchus | UBERON:0002185 | 70.57 | gold quality |
| bone marrow cell | CL:0002092 | 70.50 | gold quality |
| Ammon’s horn | UBERON:0001954 | 69.44 | gold quality |
| nucleus accumbens | UBERON:0001882 | 69.15 | gold quality |
| endocervix | UBERON:0000458 | 68.98 | gold quality |
| right frontal lobe | UBERON:0002810 | 68.60 | gold quality |
| midbrain | UBERON:0001891 | 67.32 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 66.49 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 66.15 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 65.75 | gold quality |
| transverse colon | UBERON:0001157 | 65.37 | gold quality |
| left uterine tube | UBERON:0001303 | 65.32 | gold quality |
| colonic epithelium | UBERON:0000397 | 65.15 | silver quality |
| small intestine | UBERON:0002108 | 64.91 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.29 |
| E-GEOD-98556 | no | 8.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting KIF19, 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-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-802 | 99.61 | 67.70 | 1254 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-2053 | 99.57 | 69.15 | 1635 |
| HSA-MIR-4480 | 99.42 | 66.02 | 735 |
| HSA-MIR-5693 | 99.24 | 66.67 | 1106 |
| HSA-MIR-2054 | 99.20 | 68.89 | 1699 |
| HSA-MIR-196A-3P | 99.19 | 67.34 | 1204 |
| HSA-MIR-6799-5P | 99.14 | 65.72 | 2093 |
| HSA-MIR-4758-3P | 99.12 | 63.96 | 869 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-5089-5P | 98.45 | 66.06 | 1388 |
| HSA-MIR-6793-3P | 97.66 | 65.78 | 1084 |
| HSA-MIR-3173-5P | 97.35 | 65.82 | 1282 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kif19 | ENSDARG00000053026 |
| mus_musculus | Kif19a | ENSMUSG00000010021 |
| rattus_norvegicus | Kif19 | ENSRNOG00000003105 |
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), KIF13B (ENSG00000197892), KIF4B (ENSG00000226650)
Protein
Protein identifiers
Kinesin-like protein KIF19 — Q2TAC6 (reviewed: Q2TAC6)
All UniProt accessions (2): Q2TAC6, F8VW50
UniProt curated annotations — full annotation on UniProt →
Function. Plus end-directed microtubule-dependent motor protein that regulates the length of motile cilia by mediating depolymerization of microtubules at ciliary tips.
Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Cilium.
Miscellaneous. Due to intron retention. Due to intron retention.
Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q2TAC6-1 | 1 | yes |
| Q2TAC6-2 | 2 | |
| Q2TAC6-3 | 3 |
RefSeq proteins (1): NP_694941* (*=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
UniProt features (24 total): compositionally biased region 6, region of interest 5, sequence variant 4, splice variant 3, coiled-coil region 3, chain 1, domain 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q2TAC6-F1 | 65.40 | 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): 104–111
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: 87 (showing top):
GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, GOCC_KINESIN_COMPLEX, REACTOME_MEMBRANE_TRAFFICKING, GOBP_MICROTUBULE_DEPOLYMERIZATION, GOBP_CILIUM_ORGANIZATION, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_PROTEIN_DEPOLYMERIZATION, GOBP_CELL_PROJECTION_ORGANIZATION, CCCNNGGGAR_OLF1_01, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_ORGANELLE_DISASSEMBLY, GOCC_CYTOPLASMIC_REGION, GOCC_CILIUM, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOMF_CYTOSKELETAL_PROTEIN_BINDING
GO Biological Process (3): microtubule-based movement (GO:0007018), axonemal microtubule depolymerization (GO:0060404), plus-end specific microtubule depolymerization (GO:0070462)
GO Molecular Function (7): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), plus-end-directed microtubule motor activity (GO:0008574), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774)
GO Cellular Component (7): cytoplasm (GO:0005737), kinesin complex (GO:0005871), microtubule (GO:0005874), cilium (GO:0005929), axoneme (GO:0005930), 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 |
| microtubule-based process | 1 |
| axoneme | 1 |
| cytoplasmic microtubule depolymerization | 1 |
| cilium disassembly | 1 |
| microtubule depolymerization | 1 |
| cytoskeletal motor activity | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| tubulin binding | 1 |
| microtubule motor activity | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 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 |
| cytoskeleton | 1 |
| microtubule | 1 |
| ciliary plasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
955 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KIF19 | CIB3 | Q96Q77 | 695 |
| KIF19 | BTBD17 | A6NE02 | 596 |
| KIF19 | KIF18A | Q8NI77 | 513 |
| KIF19 | IFT46 | Q9NQC8 | 513 |
| KIF19 | SMC4 | Q9NTJ3 | 491 |
| KIF19 | C19orf81 | C9J6K1 | 447 |
| KIF19 | DNAI2 | Q9GZS0 | 435 |
| KIF19 | GYG2 | O15488 | 427 |
| KIF19 | DCTN5 | Q9BTE1 | 404 |
| KIF19 | CEP164 | Q9UPV0 | 392 |
| KIF19 | NEK10 | Q6ZWH5 | 372 |
| KIF19 | IFT140 | Q96RY7 | 372 |
| KIF19 | NCBP2L | A6PVI3 | 370 |
| KIF19 | CD300A | Q9UGN4 | 363 |
| KIF19 | CD300LD | Q6UXZ3 | 348 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIF19 | HTR2B | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (8): AKAP9 (Two-hybrid), NDEL1 (Two-hybrid), KIF19 (Two-hybrid), MAPRE3 (Two-hybrid), KIF19 (Two-hybrid), KIF19 (Positive Genetic), KIF19 (Affinity Capture-MS), KIF19 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A2A5N8, A6NCW0, A6NCW7, A8MUK1, B1AQJ2, B2RQC2, C9J2P7, C9JJH3, C9JLJ4, C9JPN9, C9JVI0, D3ZWK4, D6R901, D6R9N7, D6RA61, D6RBM5, D6RBQ6, D6RCP7, D6RJB6, E9Q9U0, G5E8G2, G5E8I7, O94966, P0C7H9, P0C7I0, P35125, P51784, Q0E2F9, Q0WX57, Q2TAC6, Q3UJD6, Q4KLL9, Q5R7G8, Q5TKR9, Q61068, Q66HE5, Q6J1Y9, Q6PFD6, Q6QN14, Q6R6M4
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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| KIF19 | up-regulates | “Plus-end directed sliding movement” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
228 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 205 |
| Likely benign | 13 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1252051 | NM_153209.4(KIF19):c.788G>A (p.Arg263His) | Pathogenic |
SpliceAI
3089 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:74326385:CATGG:C | donor_loss | 1.0000 |
| 17:74326388:GGTGA:G | donor_loss | 1.0000 |
| 17:74326389:G:GA | donor_loss | 1.0000 |
| 17:74326390:T:A | donor_loss | 1.0000 |
| 17:74341985:AGG:A | donor_loss | 1.0000 |
| 17:74341986:GGT:G | donor_loss | 1.0000 |
| 17:74341987:GT:G | donor_loss | 1.0000 |
| 17:74341988:T:A | donor_loss | 1.0000 |
| 17:74342628:A:AC | acceptor_loss | 1.0000 |
| 17:74342628:A:AG | acceptor_gain | 1.0000 |
| 17:74342628:AG:A | acceptor_gain | 1.0000 |
| 17:74342629:G:GT | acceptor_gain | 1.0000 |
| 17:74342629:GG:G | acceptor_gain | 1.0000 |
| 17:74342629:GGA:G | acceptor_gain | 1.0000 |
| 17:74342629:GGAGA:G | acceptor_gain | 1.0000 |
| 17:74342715:CAGGT:C | donor_loss | 1.0000 |
| 17:74342718:GTAA:G | donor_loss | 1.0000 |
| 17:74343020:CCAG:C | acceptor_loss | 1.0000 |
| 17:74343021:CA:C | acceptor_loss | 1.0000 |
| 17:74343023:GGCT:G | acceptor_gain | 1.0000 |
| 17:74343130:G:GT | donor_gain | 1.0000 |
| 17:74343156:TGGAG:T | donor_gain | 1.0000 |
| 17:74343157:GGAG:G | donor_gain | 1.0000 |
| 17:74343157:GGAGG:G | donor_gain | 1.0000 |
| 17:74343158:GAG:G | donor_gain | 1.0000 |
| 17:74343158:GAGG:G | donor_gain | 1.0000 |
| 17:74343159:AGGT:A | donor_loss | 1.0000 |
| 17:74343161:G:GG | donor_gain | 1.0000 |
| 17:74343161:G:T | donor_loss | 1.0000 |
| 17:74343162:T:A | donor_loss | 1.0000 |
AlphaMissense
6489 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:74344233:A:T | E156V | 1.000 |
| 17:74346408:G:A | G270R | 1.000 |
| 17:74346408:G:C | G270R | 1.000 |
| 17:74346420:A:G | N274D | 1.000 |
| 17:74346422:C:A | N274K | 1.000 |
| 17:74346422:C:G | N274K | 1.000 |
| 17:74346430:T:C | L277P | 1.000 |
| 17:74346433:T:C | L278P | 1.000 |
| 17:74346449:C:G | C283W | 1.000 |
| 17:74346501:A:C | S301R | 1.000 |
| 17:74346503:C:A | S301R | 1.000 |
| 17:74346503:C:G | S301R | 1.000 |
| 17:74342708:G:C | G104R | 0.999 |
| 17:74342709:G:A | G104D | 0.999 |
| 17:74343033:A:T | K110I | 0.999 |
| 17:74344232:G:A | E156K | 0.999 |
| 17:74344233:A:C | E156A | 0.999 |
| 17:74344839:C:G | H221D | 0.999 |
| 17:74344841:C:A | H221Q | 0.999 |
| 17:74344841:C:G | H221Q | 0.999 |
| 17:74344930:T:C | L251P | 0.999 |
| 17:74344944:C:A | R256S | 0.999 |
| 17:74346408:G:T | G270W | 0.999 |
| 17:74346409:G:A | G270E | 0.999 |
| 17:74346411:G:C | A271P | 0.999 |
| 17:74346412:C:A | A271D | 0.999 |
| 17:74346418:T:A | I273N | 0.999 |
| 17:74346418:T:C | I273T | 0.999 |
| 17:74346418:T:G | I273S | 0.999 |
| 17:74346421:A:T | N274I | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000049505 (17:74353058 A>G), RS1000091442 (17:74325858 G>A), RS1000136309 (17:74330393 T>C), RS1000177975 (17:74331445 C>T), RS1000298562 (17:74345267 G>A), RS1000384292 (17:74335963 T>C), RS1000409292 (17:74340751 G>A), RS1000583943 (17:74339743 G>A), RS1000638770 (17:74343926 C>T), RS1000728699 (17:74339567 GC>G), RS1000932591 (17:74324456 C>A), RS1001003365 (17:74354108 G>A,T), RS1001172906 (17:74335089 A>G), RS1001236015 (17:74328182 G>A), RS1001436043 (17:74335277 G>A)
Disease associations
OMIM: gene MIM:619610 | disease phenotypes: MIM:236750
GenCC curated gene-disease
Mondo (1): non-immune hydrops fetalis (MONDO:0009369)
Orphanet (1): Non-immune hydrops fetalis (Orphanet:363999)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| propionaldehyde | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| pentanal | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Oxygen | decreases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04308603 | Not specified | COMPLETED | Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops (NIH) Fetalis by Massively Parallel Sequencing |
| NCT05528796 | Not specified | ENROLLING_BY_INVITATION | Uncovering the Etiologies of Non-immune Hydrops Fetalis |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): non-immune hydrops fetalis