IFT20

Summary

IFT20 (intraflagellar transport 20, HGNC:30989) is a protein-coding gene on chromosome 17q11.2, encoding Intraflagellar transport protein 20 homolog (Q8IY31). Part of intraflagellar transport (IFT) particles involved in ciliary process assembly.

This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.

Source: NCBI Gene 90410 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 30 total
• MANE Select transcript: NM_001267776

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30989
Approved symbol	IFT20
Name	intraflagellar transport 20
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000109083
Ensembl biotype	protein_coding
OMIM	614394
Entrez	90410

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 15 protein_coding, 6 retained_intron

ENST00000322326, ENST00000357896, ENST00000395418, ENST00000577498, ENST00000578009, ENST00000578122, ENST00000578547, ENST00000578985, ENST00000579419, ENST00000580357, ENST00000580991, ENST00000582797, ENST00000583796, ENST00000585089, ENST00000585313, ENST00000588477, ENST00000900357, ENST00000900358, ENST00000900359, ENST00000900360, ENST00000918609

RefSeq mRNA: 6 — MANE Select: NM_001267776 NM_001267774, NM_001267775, NM_001267776, NM_001267777, NM_001267778, NM_174887

CCDS: CCDS32593, CCDS58533, CCDS58534, CCDS58535, CCDS74017

Canonical transcript exons

ENST00000395418 — 5 exons

Exon	Start	End
ENSE00000705760	28330443	28330528
ENSE00002686368	28335340	28335472
ENSE00003492454	28329173	28329276
ENSE00003526349	28331859	28331987
ENSE00003900438	28328326	28328733

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 98.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.5507 / max 922.2382, expressed in 1821 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164982	38.3594	1820
164981	4.1751	1480
164980	0.0162	5

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	98.00	gold quality
tibia	UBERON:0000979	97.82	gold quality
parotid gland	UBERON:0001831	97.36	gold quality
pituitary gland	UBERON:0000007	97.04	gold quality
cerebellar hemisphere	UBERON:0002245	96.94	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.92	gold quality
cerebellar cortex	UBERON:0002129	96.85	gold quality
adenohypophysis	UBERON:0002196	96.78	gold quality
bronchial epithelial cell	CL:0002328	96.75	gold quality
jejunal mucosa	UBERON:0000399	96.44	gold quality
cerebellum	UBERON:0002037	96.28	gold quality
epithelium of bronchus	UBERON:0002031	96.23	gold quality
bronchus	UBERON:0002185	96.16	gold quality
periodontal ligament	UBERON:0008266	95.96	gold quality
cardia of stomach	UBERON:0001162	95.85	gold quality
pancreas	UBERON:0001264	95.68	gold quality
monocyte	CL:0000576	95.47	gold quality
left testis	UBERON:0004533	95.45	gold quality
mononuclear cell	CL:0000842	95.43	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	95.38	gold quality
seminal vesicle	UBERON:0000998	95.31	gold quality
palpebral conjunctiva	UBERON:0001812	95.30	gold quality
choroid plexus epithelium	UBERON:0003911	95.21	gold quality
pylorus	UBERON:0001166	95.08	gold quality
right testis	UBERON:0004534	95.08	gold quality
leukocyte	CL:0000738	95.07	gold quality
duodenum	UBERON:0002114	94.93	gold quality
right uterine tube	UBERON:0001302	94.86	gold quality
body of stomach	UBERON:0001161	94.79	gold quality
testis	UBERON:0000473	94.73	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ETS1, MXI1

miRNA regulators (miRDB)

23 targeting IFT20, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-548V	99.29	69.47	1157
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-6876-3P	98.97	65.69	765
HSA-MIR-626	98.89	66.21	762
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-5581-5P	97.91	66.50	965

Literature-anchored findings (GeneRIF, showing 9)

• Data report the molecular cloning and characterization of a novel human cDNA encoding a putative protein of 158 amino acid residues which shares high homology to Mus musculus intraflagellar transport protein mIFT20. (PMID:14672413)
• This work suggests that IFT20 functions in the delivery of ciliary membrane proteins from the Golgi complex to the cilium. (PMID:16775004)
• IFT20 is required for the delivery of the intracellular pool of LAT to the immune synapse in naive primary T lymphocytes. (PMID:26715756)
• the traffic-related role of an IFT20 complex that includes components of the intracellular trafficking machinery in immune synapse assembly, is reported. (PMID:28154159)
• Authors showed that in chondrocytes from human (ACH, TD) and mouse Fgfr3Y367C/+ cartilage, the constitutively active FGFR3 perturbed PC length and the sorting and trafficking of intraflagellar transport (IFT) 20 to the PC. (PMID:29040558)
• intraflagellar transport protein 20 (IFT20) interacts with E3 ubiquitin ligases c-Cbl and Cbl-b and is required for Cbl-mediated ubiquitination and internalization of PDGFRalpha for feedback inhibition of receptor signaling. (PMID:29237719)
• These results indicate that IFT20 plays an important role in collective invasion of CRC cells by regulating organization of Golgi-associated, stabilized microtubules and Golgi polarity in leader cells. (PMID:30742741)
• The intraflagellar transport protein IFT20 controls lysosome biogenesis by regulating the post-Golgi transport of acid hydrolases. (PMID:31142807)
• Associations of IFT20 and GM130 protein expressions with clinicopathological features and survival of patients with lung adenocarcinoma. (PMID:35869490)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ift20	ENSDARG00000040556
mus_musculus	Ift20	ENSMUSG00000001105
rattus_norvegicus	Ift20	ENSRNOG00000008891
drosophila_melanogaster	IFT20	FBGN0050441
caenorhabditis_elegans	ift-20	WBGENE00022465

Protein

Protein identifiers

Intraflagellar transport protein 20 homolog — Q8IY31 (reviewed: Q8IY31)

All UniProt accessions (6): Q8IY31, A0A087X2B4, J3KRU2, J3QR43, J3QRC6, J3QRH2

UniProt curated annotations — full annotation on UniProt →

Function. Part of intraflagellar transport (IFT) particles involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium. Regulates the platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Required for protein stability of E3 ubiquitin ligases CBL and CBLB that mediate ubiquitination and internalization of PDGFRA for proper feedback inhibition of PDGFRA signaling. Essential for male fertility. Plays an important role in spermatogenesis, particularly spermiogenesis, when germ cells form flagella. May play a role in the transport of flagellar proteins ODF2 and SPAG16 to build sperm flagella and in the removal of redundant sperm cytoplasm. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment.

Subunit / interactions. Component of the IFT complex B, at least composed of IFT20, IFT22, IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts directly with IFT57 and KIF3B/Kinesin II subunit. Interacts with IFT88. Interacts with CEP83. Interacts with SPEF2 (via C-terminus). Interacts with CBL and CBLB. Interacts with TRIP11. Interacts with TTC21A. Interacts with SPATA1. Interacts with USH1G. Interacts with CCDC146. Interacts with CEP78; regulating IFT20 stability and localization.

Subcellular location. Golgi apparatus. cis-Golgi network. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cilium basal body. Cell projection. Cilium. Cytoplasmic vesicle. Secretory vesicle. Acrosome.

Tissue specificity. Expressed in almost all tissues.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8IY31-1	1	yes
Q8IY31-2	2
Q8IY31-3	3
Q8IY31-4	4

RefSeq proteins (6): NP_001254703, NP_001254704, NP_001254705, NP_001254706, NP_001254707, NP_777547 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028172	FT20	Family

Pfam: PF14931

UniProt features (6 total): splice variant 3, chain 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IY31-F1	94.51	0.82

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5620924	Intraflagellar transport

MSigDB gene sets: 262 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, ATF_B, GOBP_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_MONOPOLAR_CELL_POLARITY, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_COGNITION, MYOGENIN_Q6, GOBP_BEHAVIOR, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_VACUOLE_ORGANIZATION, GOBP_ESTABLISHMENT_OF_EPITHELIAL_CELL_POLARITY, GOCC_SECRETORY_GRANULE

GO Biological Process (28): establishment of planar polarity (GO:0001736), kidney development (GO:0001822), smoothened signaling pathway (GO:0007224), spermatogenesis (GO:0007283), visual learning (GO:0008542), protein localization to Golgi apparatus (GO:0034067), intraciliary anterograde transport (GO:0035720), photoreceptor cell outer segment organization (GO:0035845), opsin transport (GO:0036372), establishment of epithelial cell apical/basal polarity (GO:0045198), positive regulation of cilium assembly (GO:0045724), centrosome localization (GO:0051642), cardiac muscle cell differentiation (GO:0055007), inner ear receptor cell stereocilium organization (GO:0060122), cilium assembly (GO:0060271), regulation of canonical Wnt signaling pathway (GO:0060828), neural precursor cell proliferation (GO:0061351), protein localization to cilium (GO:0061512), protein transmembrane transport (GO:0071806), protein localization to plasma membrane (GO:0072659), cochlea development (GO:0090102), regulation of cilium assembly (GO:1902017), regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000583), regulation of autophagosome assembly (GO:2000785), neurogenesis (GO:0022008), cell projection organization (GO:0030030), cell differentiation (GO:0030154), intraciliary transport (GO:0042073)

GO Molecular Function (3): opsin binding (GO:0002046), small GTPase binding (GO:0031267), protein binding (GO:0005515)

GO Cellular Component (27): Golgi membrane (GO:0000139), acrosomal vesicle (GO:0001669), photoreceptor outer segment (GO:0001750), manchette (GO:0002177), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cis-Golgi network (GO:0005801), centrosome (GO:0005813), centriole (GO:0005814), microvillus (GO:0005902), cilium (GO:0005929), intraciliary transport particle (GO:0030990), intraciliary transport particle A (GO:0030991), intraciliary transport particle B (GO:0030992), motile cilium (GO:0031514), photoreceptor connecting cilium (GO:0032391), stereocilium (GO:0032420), ciliary basal body (GO:0036064), neuron projection (GO:0043005), dendrite terminus (GO:0044292), ciliary tip (GO:0097542), ciliary base (GO:0097546), non-motile cilium (GO:0097730), kinociliary basal body (GO:1902636), cytoskeleton (GO:0005856), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Assembly of the 9+0 primary cilium	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
microtubule organizing center	3
intraciliary transport particle	3
protein-containing complex	3
protein localization to organelle	2
protein transport	2
Golgi apparatus	2
photoreceptor cell cilium	2
intracellular membrane-bounded organelle	2
actin-based cell projection	2
plasma membrane bounded cell projection	2
cilium	2
morphogenesis of a polarized epithelium	1
establishment of tissue polarity	1
animal organ development	1
renal system development	1
cell surface receptor signaling pathway	1
developmental process involved in reproduction	1
male gamete generation	1
visual behavior	1
associative learning	1
intraciliary transport	1
cellular component organization	1
photoreceptor cell development	1
polarized epithelial cell differentiation	1
establishment of apical/basal cell polarity	1
establishment or maintenance of epithelial cell apical/basal polarity	1
establishment of epithelial cell polarity	1
cilium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
regulation of cilium assembly	1
positive regulation of organelle assembly	1
microtubule organizing center localization	1
cardiocyte differentiation	1
cardiac muscle tissue development	1
striated muscle cell differentiation	1
neuron projection development	1
inner ear receptor cell development	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1

Protein interactions and networks

STRING

1382 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFT20	IFT57	Q9NWB7	996
IFT20	IFT54	Q8TDR0	995
IFT20	IFT80	Q9P2H3	990
IFT20	IFT52	Q9Y366	986
IFT20	IFT38	Q96AJ1	981
IFT20	IFT172	Q9UG01	979
IFT20	IFT88	Q13099	967
IFT20	IFT27	Q9BW83	966
IFT20	IFT46	Q9NQC8	965
IFT20	TRIP11	Q15643	959
IFT20	IFT25	Q9Y547	949
IFT20	IFT22	Q9H7X7	945
IFT20	IFT74	Q96LB3	939
IFT20	RAB8A	P24407	930
IFT20	IFT81	Q8WYA0	884

IntAct

149 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
IFT57	CORO1A	psi-mi:“MI:0914”(association)	0.790
IFT70A	IFT56	psi-mi:“MI:0914”(association)	0.790
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
IFT20	KXD1	psi-mi:“MI:0915”(physical association)	0.770
KXD1	IFT20	psi-mi:“MI:0915”(physical association)	0.770
MED4	IFT20	psi-mi:“MI:0915”(physical association)	0.740
IFT20	ABI2	psi-mi:“MI:0915”(physical association)	0.740
EXOC7	IFT20	psi-mi:“MI:0915”(physical association)	0.740
IFT20	EXOC7	psi-mi:“MI:0915”(physical association)	0.740
ABI2	IFT20	psi-mi:“MI:0915”(physical association)	0.740
IFT25	IFT56	psi-mi:“MI:0914”(association)	0.690
IFT27	IFT56	psi-mi:“MI:0914”(association)	0.690

BioGRID (199): IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid), IFT20 (Two-hybrid)

ESM2 similar proteins: A1L3H4, A5A777, A6QR54, A6ZRZ4, A9ULR1, B2GV52, B3LNU5, C5E2E7, C7GUN6, C8ZGE4, P0CAP1, P33716, P35458, P48232, P57679, P70281, Q0IHJ3, Q32L59, Q3UIJ9, Q4R764, Q58CS6, Q5EB94, Q5I0J4, Q5RA87, Q5XIC3, Q5ZK77, Q60547, Q60595, Q61025, Q61806, Q63312, Q63520, Q640Z7, Q66I67, Q66KL7, Q6CQ94, Q6NPG7, Q6P205, Q750P7, Q80Y56

Diamond homologs: Q58CS6, Q61025, Q640Z7, Q66I67, Q66KL7, Q8IY31, Q8TA52, Q90WZ0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 71 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Intraflagellar transport	14	62.3×	5e-20

GO biological processes:

GO term	Partners	Fold	FDR
intraciliary anterograde transport	13	198.8×	3e-26
intraciliary transport	12	116.2×	1e-20
negative regulation of keratinocyte proliferation	5	60.5×	1e-06
keratinocyte proliferation	5	50.1×	3e-06
non-motile cilium assembly	9	45.1×	4e-11
smoothened signaling pathway	9	28.1×	2e-09
cilium assembly	20	25.4×	5e-21
kidney development	5	12.1×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

30 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1079 predictions. Top by Δscore:

Variant	Effect	Δscore
17:28330437:TCTTA:T	donor_loss	1.0000
17:28330438:CTTAC:C	donor_loss	1.0000
17:28330439:TTACC:T	donor_loss	1.0000
17:28330440:TAC:T	donor_loss	1.0000
17:28330441:A:AT	donor_loss	1.0000
17:28330530:T:C	acceptor_gain	1.0000
17:28330532:T:C	acceptor_gain	1.0000
17:28330532:T:TC	acceptor_gain	1.0000
17:28331850:AATAC:A	donor_loss	1.0000
17:28331851:ATACT:A	donor_loss	1.0000
17:28331852:TACT:T	donor_loss	1.0000
17:28331853:AC:A	donor_loss	1.0000
17:28331854:CTC:C	donor_loss	1.0000
17:28331855:TCA:T	donor_loss	1.0000
17:28331856:CA:C	donor_loss	1.0000
17:28331857:A:AC	donor_gain	1.0000
17:28331857:A:C	donor_loss	1.0000
17:28331857:ACTGT:A	donor_gain	1.0000
17:28331858:C:CC	donor_gain	1.0000
17:28331858:CT:C	donor_gain	1.0000
17:28331858:CTG:C	donor_gain	1.0000
17:28331858:CTGT:C	donor_gain	1.0000
17:28331858:CTGTC:C	donor_gain	1.0000
17:28331882:T:TA	donor_gain	1.0000
17:28331983:CATGG:C	acceptor_gain	1.0000
17:28331984:ATGG:A	acceptor_gain	1.0000
17:28331985:TGG:T	acceptor_gain	1.0000
17:28331986:GG:G	acceptor_gain	1.0000
17:28331986:GGC:G	acceptor_loss	1.0000
17:28331987:GCT:G	acceptor_loss	1.0000

AlphaMissense

880 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:28329179:A:G	L104P	0.999
17:28329203:A:G	L96P	0.999
17:28329212:A:G	L93P	0.999
17:28329267:C:G	A75P	0.999
17:28329269:C:T	G74D	0.999
17:28329276:C:G	A72P	0.999
17:28330472:C:G	A62P	0.999
17:28328714:C:G	A113P	0.998
17:28329207:C:G	A95P	0.998
17:28329228:C:G	A88P	0.998
17:28329249:A:G	S81P	0.998
17:28329254:A:G	L79P	0.998
17:28329259:G:C	N77K	0.998
17:28329259:G:T	N77K	0.998
17:28329263:C:G	R76P	0.998
17:28329270:C:G	G74R	0.998
17:28331888:A:G	L33P	0.998
17:28328689:T:G	Q121P	0.997
17:28329173:C:A	R106M	0.997
17:28330474:A:G	L61P	0.997
17:28331866:A:C	F40L	0.997
17:28331866:A:T	F40L	0.997
17:28331868:A:G	F40L	0.997
17:28329173:C:G	R106T	0.996
17:28329261:T:C	N77D	0.996
17:28329275:G:T	A72D	0.996
17:28330449:C:A	K69N	0.996
17:28330449:C:G	K69N	0.996
17:28330463:C:G	A65P	0.996
17:28330515:A:C	F47L	0.996

dbSNP variants (sampled 300 via entrez): RS1000285564 (17:28330504 A>G), RS1000572287 (17:28329987 G>A,C), RS1001100615 (17:28335720 C>G,T), RS1001151565 (17:28335513 C>A), RS1003006791 (17:28332400 C>T), RS1004174209 (17:28336017 T>A), RS1004290869 (17:28336305 C>G,T), RS1004469098 (17:28335144 A>C), RS1004521897 (17:28334850 G>A), RS1004754995 (17:28329644 G>T), RS1005352174 (17:28331363 C>T), RS1005817558 (17:28330977 G>A), RS1007461618 (17:28337400 C>G), RS1007509342 (17:28336834 C>G), RS1008819811 (17:28333668 T>C)

Disease associations

OMIM: gene MIM:614394 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002546_2	Osteoprotegerin levels	1.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	decreases methylation, increases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
sodium arsenite	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cisplatin	increases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Demecolcine	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Tunicamycin	increases expression	1
Vanadates	decreases expression	1
Vincristine	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Isotretinoin	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.