HOOK1

Summary

HOOK1 (hook microtubule tethering protein 1, HGNC:19884) is a protein-coding gene on chromosome 1p32.1, encoding Protein Hook homolog 1 (Q9UJC3). Component of the FTS/Hook/FHIP complex (FHF complex).

This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined.

Source: NCBI Gene 51361 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 123 total
• MANE Select transcript: NM_015888

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19884
Approved symbol	HOOK1
Name	hook microtubule tethering protein 1
Location	1p32.1
Locus type	gene with protein product
Status	Approved
Aliases	HK1
Ensembl gene	ENSG00000134709
Ensembl biotype	protein_coding
OMIM	607820
Entrez	51361

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 10 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000371208, ENST00000455990, ENST00000465876, ENST00000466803, ENST00000474695, ENST00000491135, ENST00000685567, ENST00000686522, ENST00000686716, ENST00000687049, ENST00000907005, ENST00000907006, ENST00000907007, ENST00000907008, ENST00000907009, ENST00000929633, ENST00000966474

RefSeq mRNA: 1 — MANE Select: NM_015888 NM_015888

CCDS: CCDS612

Canonical transcript exons

ENST00000371208 — 22 exons

Exon	Start	End
ENSE00000773073	59864632	59864666
ENSE00001012256	59865163	59865245
ENSE00001454621	59872795	59876322
ENSE00001454623	59814949	59815180
ENSE00003460625	59835345	59835412
ENSE00003478552	59865872	59865972
ENSE00003506581	59868250	59868351
ENSE00003516600	59858985	59859045
ENSE00003517871	59849073	59849183
ENSE00003529972	59836873	59836935
ENSE00003532773	59871042	59871110
ENSE00003546778	59862784	59862877
ENSE00003556189	59858428	59858515
ENSE00003565141	59843432	59843598
ENSE00003566329	59821858	59821943
ENSE00003589314	59833405	59833537
ENSE00003610770	59840308	59840391
ENSE00003619192	59848315	59848516
ENSE00003670890	59828780	59828852
ENSE00003684459	59847045	59847185
ENSE00003689893	59832163	59832213
ENSE00003692523	59860188	59860328

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 99.41.

FANTOM5 (CAGE): breadth broad, TPM avg 3.8281 / max 115.4814, expressed in 717 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
3057	2.6633	663
3058	0.9263	430
3056	0.1371	68
3055	0.1014	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.41	gold quality
male germ cell	CL:0000015	97.66	gold quality
cervix squamous epithelium	UBERON:0006922	96.50	gold quality
left testis	UBERON:0004533	95.65	gold quality
right testis	UBERON:0004534	95.64	gold quality
testis	UBERON:0000473	93.32	gold quality
body of pancreas	UBERON:0001150	92.73	gold quality
bronchial epithelial cell	CL:0002328	92.18	gold quality
esophagus squamous epithelium	UBERON:0006920	92.10	gold quality
squamous epithelium	UBERON:0006914	91.39	gold quality
islet of Langerhans	UBERON:0000006	90.96	gold quality
pancreas	UBERON:0001264	90.75	gold quality
pigmented layer of retina	UBERON:0001782	90.57	gold quality
jejunal mucosa	UBERON:0000399	90.56	gold quality
colonic mucosa	UBERON:0000317	90.36	gold quality
gingival epithelium	UBERON:0001949	89.81	gold quality
gingiva	UBERON:0001828	89.79	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.66	gold quality
skin of abdomen	UBERON:0001416	89.09	gold quality
palpebral conjunctiva	UBERON:0001812	88.40	gold quality
Brodmann (1909) area 23	UBERON:0013554	88.27	gold quality
rectum	UBERON:0001052	88.26	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.06	gold quality
esophagus mucosa	UBERON:0002469	88.01	gold quality
skin of leg	UBERON:0001511	87.81	gold quality
right lobe of liver	UBERON:0001114	87.61	gold quality
secondary oocyte	CL:0000655	87.26	gold quality
minor salivary gland	UBERON:0001830	87.04	gold quality
mouth mucosa	UBERON:0003729	87.02	gold quality
liver	UBERON:0002107	86.86	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7249	yes	11.12
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

152 targeting HOOK1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-12136	99.98	72.81	5713
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-27A-3P	99.98	72.13	2955

Literature-anchored findings (GeneRIF, showing 10)

• novel interactions between the microtubule-binding Hook1 and the large family of Rab GTPases also suggest a link between CLN3 function, microtubule cytoskeleton and endocytic membrane trafficking (PMID:15471887)
• These data suggest that the FTS/Hook/FHIP complex functions to promote vesicle trafficking and/or fusion via the homotypic vacuolar protein sorting complex. (PMID:18799622)
• Hook1, a microtubule- and cargo-tethering protein, recognized the cytoplasmic tail of CD147 to help sort it and CD98 into Rab22a-dependent tubules associated with recycling. (PMID:23589492)
• SHP2 positively regulates TGFbeta1-induced epithelial-mesenchymal transition modulated by its novel interacting protein Hook1. (PMID:25331952)
• Single-molecule motility assays using total internal reflection fluorescence microscopy indicate that both Hook1 and Hook3 effectively activate cytoplasmic dynein, inducing longer run lengths and higher velocities than the previously characterized dynein activator bicaudal D2 (BICD2). (PMID:27365401)
• Hook1 knockdown promoted epithelial-mesenchymal transition and attenuated the sensitivity of hepatocellular carcinoma cells to doxorubicin. In summary, our results indicate that downregulation of Hook1 plays a pivotal role in hepatocellular carcinoma progression via epithelial-mesenchymal transition. Hook1 may be used as a novel marker and therapeutic molecular target in hepatocellular carcinoma (PMID:28718370)
• unreported mutation in HOOK1 gene was identified, which might be responsible to some patients with decapitated and decaudated spermatozoa (DDS) syndrome. Further studies need to uncover the molecular mechanism of spermiogenesis for genomic therapy. (PMID:29330334)
• No significant correlation between Hook1 expression and outcome in thyroid carcinoma. (PMID:29953894)
• HOOK1 Inhibits the Progression of Renal Cell Carcinoma via TGF-beta and TNFSF13B/VEGF-A Axis. (PMID:37085921)
• Protein homeostasis maintained by HOOK1 levels promotes the tumorigenic and stemness properties of ovarian cancer cells through reticulum stress and autophagy. (PMID:38807192)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	hook1	ENSDARG00000042946
mus_musculus	Hook1	ENSMUSG00000028572
rattus_norvegicus	Hook1	ENSRNOG00000026226
drosophila_melanogaster	Girdin	FBGN0283724
caenorhabditis_elegans		WBGENE00013082

Paralogs (5): CCDC88C (ENSG00000015133), HOOK2 (ENSG00000095066), CCDC88A (ENSG00000115355), CCDC88B (ENSG00000168071), HOOK3 (ENSG00000168172)

Protein

Protein identifiers

Protein Hook homolog 1 — Q9UJC3 (reviewed: Q9UJC3)

All UniProt accessions (5): A0A8I5KQJ5, A0A8I5KRQ9, A0A8I5KRT5, B1AK95, Q9UJC3

UniProt curated annotations — full annotation on UniProt →

Function. Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell. Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton.

Subunit / interactions. Self-associates. Component of the FTS/Hook/FHIP complex (FHF complex), composed of AKTIP/FTS, FHIP1B, and one or more members of the Hook family of proteins HOOK1, HOOK2, and HOOK3. Interacts directly with AKTIP/FTS, HOOK2 and HOOK3. Associates with several subunits of the homotypic vesicular sorting complex (the HOPS complex) including VPS16, VPS18, VPS39 and VPS41; these interactions may be indirect. Interacts with CCDC181. Interacts (via coiled-coil region) with RIMBP3 (via C-terminus). Interacts with LRGUK (via guanylate kinase-like domain). Interacts with microtubules. May interact with CLN3. Interacts with AP4M1; the interaction is direct, mediates the interaction between FTS-Hook-FHIP (FHF) complex and AP-4 and the perinuclear distribution of AP-4.

Subcellular location. Cytoplasm. Cytoskeleton.

Similarity. Belongs to the hook family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UJC3-1	1	yes
Q9UJC3-2	2

RefSeq proteins (1): NP_056972* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001715	CH_dom	Domain
IPR008636	Hook_C	Domain
IPR036872	CH_dom_sf	Homologous_superfamily
IPR043936	HOOK_N	Domain

Pfam: PF05622, PF19047

UniProt features (19 total): modified residue 5, region of interest 4, sequence variant 2, mutagenesis site 2, coiled-coil region 2, chain 1, domain 1, splice variant 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJC3-F1	83.26	0.45

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5): 235, 699, 719, 727, 1

Mutagenesis-validated functional residues (2):

Position	Phenotype
661–662	abrogates interaction with aktip, vps16, vps18, vps39 and vps41, ap4m1, fhip1b, decreases interaction with hook2 but doe
669–670	abrogates interaction with aktip, vps16, vps18, vps39 and vps41, ap4m1, fhip1b, decreases interaction with hook2 but doe

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 778 (showing top): GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_LYSOSOMAL_TRANSPORT, GOBP_ENDOSOME_ORGANIZATION, HARRIS_HYPOXIA, GOBP_VACUOLE_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_INFLAMMATORY_RESPONSE, GOBP_VESICLE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE, GOZGIT_ESR1_TARGETS_DN, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP

GO Biological Process (13): Golgi organization (GO:0007030), endosome organization (GO:0007032), lysosome organization (GO:0007040), endosome to lysosome transport (GO:0008333), protein transport (GO:0015031), cytoskeleton-dependent intracellular transport (GO:0030705), cytoplasmic microtubule organization (GO:0031122), early endosome to late endosome transport (GO:0045022), manchette assembly (GO:1905198), protein localization to perinuclear region of cytoplasm (GO:1905719), spermatogenesis (GO:0007283), spermatid development (GO:0007286), cell differentiation (GO:0030154)

GO Molecular Function (6): actin binding (GO:0003779), microtubule binding (GO:0008017), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), dynein light intermediate chain binding (GO:0051959), protein binding (GO:0005515)

GO Cellular Component (7): cytoplasm (GO:0005737), centrosome (GO:0005813), microtubule (GO:0005874), FHF complex (GO:0070695), cytoskeleton (GO:0005856), microtubule cytoskeleton (GO:0015630), HOPS complex (GO:0030897)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endomembrane system organization	2
intracellular protein localization	2
cytoplasm	2
protein binding	2
organelle organization	1
vesicle organization	1
lytic vacuole organization	1
lysosomal transport	1
intercellular transport	1
vesicle-mediated transport	1
transport	1
establishment of protein localization	1
intracellular transport	1
microtubule cytoskeleton organization	1
supramolecular fiber organization	1
vesicle-mediated transport between endosomal compartments	1
spermatid development	1
cellular component assembly	1
developmental process involved in reproduction	1
male gamete generation	1
germ cell development	1
spermatid differentiation	1
cellular developmental process	1
cytoskeletal protein binding	1
tubulin binding	1
identical protein binding	1
protein dimerization activity	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
centriole	1
microtubule organizing center	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
protein-containing complex	1
intracellular membraneless organelle	1
cytoskeleton	1
membrane protein complex	1
vesicle tethering complex	1

Protein interactions and networks

STRING

1692 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HOOK1	CLN3	Q13286	936
HOOK1	RIMBP3	Q9UFD9	870
HOOK1	RAB11A	P24410	780
HOOK1	DYNC1LI1	Q9Y6G9	762
HOOK1	CCDC88B	A6NC98	762
HOOK1	FHIP1B	Q8N612	730
HOOK1	FHIP2A	Q5W0V3	723
HOOK1	BICD2	Q8TD16	704
HOOK1	BICDL1	Q6ZP65	699
HOOK1	SUN5	Q8TC36	681
HOOK1	CCDC181	Q5TID7	664
HOOK1	NIN	Q8N4C6	661
HOOK1	NINL	Q9Y2I6	659
HOOK1	AP3M1	Q9Y2T2	634
HOOK1	RAB11FIP3	O75154	627

IntAct

230 interactions, top by confidence:

A	B	Type	Score
AKTIP	HOOK1	psi-mi:“MI:0915”(physical association)	0.870
HOOK1	AKTIP	psi-mi:“MI:0915”(physical association)	0.870
CDK4	HOOK1	psi-mi:“MI:0915”(physical association)	0.860
HOOK1	CDK4	psi-mi:“MI:0915”(physical association)	0.860
HOOK3	HOOK1	psi-mi:“MI:0915”(physical association)	0.800
HOOK1	HOOK3	psi-mi:“MI:0915”(physical association)	0.800
TBC1D7	HOOK1	psi-mi:“MI:0915”(physical association)	0.780
TFIP11	HOOK1	psi-mi:“MI:0915”(physical association)	0.780
HOOK1	TBC1D7	psi-mi:“MI:0915”(physical association)	0.780
HOOK1	TFIP11	psi-mi:“MI:0915”(physical association)	0.780

BioGRID (351): HOOK1 (Two-hybrid), HOOK1 (Two-hybrid), HOOK1 (Two-hybrid), HOOK1 (Two-hybrid), HOOK1 (Two-hybrid), HOOK1 (Two-hybrid), AKTIP (Two-hybrid), SYCE1 (Two-hybrid), ZNF785 (Two-hybrid), HOOK1 (Affinity Capture-MS), HOOK1 (Affinity Capture-MS), HOOK1 (Affinity Capture-MS), HOOK1 (Affinity Capture-MS), HOOK1 (Affinity Capture-MS), HOOK1 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8QCI3, A0JMK8, A3KGV1, A7YH32, A9X1A5, B0KWC9, B6MFW3, B8JK76, G5E861, G9G127, O35550, O35551, P59242, P85120, Q15276, Q3V6T2, Q502I3, Q5BJF6, Q5RG45, Q5SNZ0, Q5TZ80, Q5ZJ27, Q5ZKK5, Q66GS9, Q66KE8, Q6AYX5, Q6DIX6, Q6NRB0, Q6P402, Q6P5D4, Q6PGZ0, Q6VGS5, Q6ZU80, Q7TMK6, Q80UF4, Q80YF0, Q80YT7, Q86SQ7, Q8BIL5, Q8CJ99

Diamond homologs: B0WPU9, B3MNR6, B3NL60, B4G831, B4I5P7, B4JAL5, B4KE73, B4N1C2, B4PAF2, B4Q9E6, B6MFW3, O61493, Q17AF4, Q24185, Q29N92, Q5TZ80, Q5ZJ27, Q7PWT9, Q8BUK6, Q96ED9, Q9UJC3, Q6NRB0, Q8BIL5, Q6GQ73, Q7TMK6, Q86VS8, Q6VGS5, P85120, Q5SNZ0, Q9P219, Q3V6T2, A0A2R8QCI3

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
HOOK1	“down-regulates activity”	PTPN11	binding
HOOK1	down-regulates	Epithelial-mesenchymal_transition

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	95
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5552 predictions. Top by Δscore:

Variant	Effect	Δscore
10:69319010:GGT:G	donor_loss	1.0000
10:69319012:T:A	donor_loss	1.0000
10:69343822:TCCA:T	acceptor_loss	1.0000
10:69343823:CCA:C	acceptor_loss	1.0000
10:69343824:CAGA:C	acceptor_loss	1.0000
10:69343825:A:AC	acceptor_loss	1.0000
10:69343825:AGATT:A	acceptor_gain	1.0000
10:69343826:GA:G	acceptor_gain	1.0000
10:69343826:GATTG:G	acceptor_gain	1.0000
10:69343989:GGT:G	donor_loss	1.0000
10:69359895:A:AT	acceptor_loss	1.0000
10:69359896:G:A	acceptor_loss	1.0000
10:69359896:GAA:G	acceptor_gain	1.0000
10:69359896:GAAA:G	acceptor_gain	1.0000
10:69359896:GAAAA:G	acceptor_gain	1.0000
10:69360042:CCAG:C	donor_loss	1.0000
10:69360043:CAGG:C	donor_loss	1.0000
10:69360044:AG:A	donor_loss	1.0000
10:69360045:GG:G	donor_loss	1.0000
10:69360046:GTG:G	donor_loss	1.0000
10:69360047:T:G	donor_loss	1.0000
10:69364777:CTTCA:C	acceptor_loss	1.0000
10:69364778:TTCA:T	acceptor_loss	1.0000
10:69364779:TCA:T	acceptor_loss	1.0000
10:69364780:CAGC:C	acceptor_loss	1.0000
10:69364781:A:AG	acceptor_gain	1.0000
10:69364781:AGC:A	acceptor_loss	1.0000
10:69364782:G:GG	acceptor_gain	1.0000
10:69364782:G:T	acceptor_loss	1.0000
10:69364782:GC:G	acceptor_gain	1.0000

AlphaMissense

4873 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:59865965:C:A	A613D	1.000
1:59848475:G:C	A364P	0.999
1:59860205:T:C	L470P	0.999
1:59865964:G:C	A613P	0.999
1:59871085:T:C	L664P	0.999
1:59871096:G:C	A668P	0.999
1:59871099:T:A	W669R	0.999
1:59871099:T:C	W669R	0.999
1:59821913:G:A	G40E	0.998
1:59828793:T:C	F55L	0.998
1:59828795:T:A	F55L	0.998
1:59828795:T:G	F55L	0.998
1:59835401:G:C	A155P	0.998
1:59849115:G:C	A392P	0.998
1:59872888:T:C	F704L	0.998
1:59872890:C:A	F704L	0.998
1:59872890:C:G	F704L	0.998
1:59821934:T:C	L47P	0.997
1:59847047:T:C	L264P	0.997
1:59849083:T:C	L381P	0.997
1:59858444:G:C	R420P	0.997
1:59865902:T:C	L592P	0.997
1:59868251:T:A	V616E	0.997
1:59868254:T:A	I617K	0.997
1:59821934:T:A	L47H	0.996
1:59828794:T:C	F55S	0.996
1:59833493:T:C	L121P	0.996
1:59833499:T:C	L123P	0.996
1:59835385:A:C	Q149H	0.996
1:59835385:A:T	Q149H	0.996

dbSNP variants (sampled 300 via entrez): RS1000014814 (1:59841247 G>C), RS1000027373 (1:59846731 T>C), RS1000072229 (1:59850418 T>C), RS1000102808 (1:59861995 A>G), RS1000118208 (1:59842857 G>A), RS1000120531 (1:59840628 A>G), RS1000130914 (1:59858383 A>C,G,T), RS1000186767 (1:59848375 A>G), RS1000315465 (1:59837012 C>T), RS1000401643 (1:59854667 A>G), RS1000457927 (1:59862316 T>C), RS1000466036 (1:59856868 G>A), RS1000480108 (1:59865341 C>G,T), RS1000490975 (1:59840948 G>A,C), RS1000497018 (1:59856570 C>A,G)

Disease associations

OMIM: gene MIM:607820 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003542_146	Night sleep phenotypes	2.000000e-06
GCST004860_98	Alcoholic chronic pancreatitis	1.000000e-06
GCST009391_1359	Metabolite levels	6.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010366	lysophosphatidylethanolamine 16:0 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2294950	CYP2J2, HOOK1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, increases expression	5
methylmercuric chloride	decreases expression	2
Acetaminophen	decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, decreases methylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
butyraldehyde	decreases expression	1
tobacco tar	decreases expression	1
testosterone-3-carboxymethyloxime-bovine serum albumin conjugate	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Air Pollutants	decreases expression	1
Amphotericin B	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Caffeine	decreases phosphorylation	1
Calcitriol	increases expression	1
Demecolcine	decreases expression	1
Doxorubicin	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Folic Acid	decreases expression	1
Formaldehyde	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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