HOOK2

Summary

HOOK2 (hook microtubule tethering protein 2, HGNC:19885) is a protein-coding gene on chromosome 19p13.13, encoding Protein Hook homolog 2 (Q96ED9). Component of the FTS/Hook/FHIP complex (FHF complex).

Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.

Source: NCBI Gene 29911 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 355 total
• MANE Select transcript: NM_013312

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19885
Approved symbol	HOOK2
Name	hook microtubule tethering protein 2
Location	19p13.13
Locus type	gene with protein product
Status	Approved
Aliases	HK2
Ensembl gene	ENSG00000095066
Ensembl biotype	protein_coding
OMIM	607824
Entrez	29911

Gene structure

Transcript identifiers

Ensembl transcripts: 40 — 22 protein_coding, 12 retained_intron, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000264827, ENST00000397668, ENST00000586188, ENST00000586284, ENST00000586710, ENST00000586719, ENST00000587178, ENST00000587964, ENST00000588052, ENST00000589134, ENST00000589398, ENST00000589400, ENST00000589765, ENST00000589915, ENST00000589965, ENST00000590839, ENST00000591251, ENST00000591641, ENST00000591839, ENST00000592079, ENST00000592259, ENST00000592512, ENST00000592808, ENST00000593143, ENST00000678590, ENST00000894574, ENST00000894575, ENST00000894576, ENST00000894577, ENST00000894578, ENST00000894579, ENST00000894580, ENST00000894581, ENST00000914424, ENST00000914425, ENST00000914426, ENST00000961672, ENST00000961673, ENST00000961674, ENST00000961675

RefSeq mRNA: 9 — MANE Select: NM_013312 NM_001100176, NM_001400041, NM_001400043, NM_001400044, NM_001400045, NM_001400046, NM_001400047, NM_001400048, NM_013312

CCDS: CCDS42507, CCDS42508

Canonical transcript exons

ENST00000397668 — 23 exons

Exon	Start	End
ENSE00001117403	12770932	12771072
ENSE00001117406	12771159	12771319
ENSE00001117407	12769881	12770082
ENSE00001117411	12768013	12768123
ENSE00001117421	12765927	12766014
ENSE00001632736	12763668	12763778
ENSE00001640811	12763528	12763599
ENSE00001655027	12763003	12763431
ENSE00001797910	12765829	12765834
ENSE00003470898	12772994	12773044
ENSE00003480915	12767816	12767903
ENSE00003491159	12771397	12771477
ENSE00003520794	12766103	12766240
ENSE00003525925	12774669	12774741
ENSE00003526358	12772613	12772680
ENSE00003551358	12767395	12767464
ENSE00003555656	12774812	12774897
ENSE00003614978	12764999	12765081
ENSE00003665666	12765690	12765724
ENSE00003687911	12764814	12764917
ENSE00003690493	12772780	12772912
ENSE00003789595	12772190	12772252
ENSE00003909418	12775405	12775552

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 98.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7612 / max 175.6761, expressed in 1788 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179357	5.7341	1441
179381	2.1018	776
179358	1.9527	1091
179383	1.5763	740
179379	1.3495	458
179382	0.7099	318
179355	0.1571	38
179380	0.1362	60
179356	0.0437	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	98.62	gold quality
apex of heart	UBERON:0002098	98.59	gold quality
left lobe of thyroid gland	UBERON:0001120	98.47	gold quality
body of pancreas	UBERON:0001150	98.15	gold quality
adenohypophysis	UBERON:0002196	98.13	gold quality
right uterine tube	UBERON:0001302	97.89	gold quality
pituitary gland	UBERON:0000007	97.78	gold quality
thyroid gland	UBERON:0002046	97.66	gold quality
lower esophagus mucosa	UBERON:0035834	97.14	gold quality
metanephros cortex	UBERON:0010533	97.06	gold quality
minor salivary gland	UBERON:0001830	96.96	gold quality
skin of abdomen	UBERON:0001416	96.42	gold quality
saliva-secreting gland	UBERON:0001044	96.09	gold quality
mucosa of transverse colon	UBERON:0004991	95.98	gold quality
skin of leg	UBERON:0001511	95.83	gold quality
heart left ventricle	UBERON:0002084	95.33	gold quality
esophagus mucosa	UBERON:0002469	95.29	gold quality
mouth mucosa	UBERON:0003729	95.06	gold quality
cardiac ventricle	UBERON:0002082	95.02	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.92	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.74	gold quality
body of stomach	UBERON:0001161	94.60	gold quality
transverse colon	UBERON:0001157	94.41	gold quality
right lobe of liver	UBERON:0001114	94.32	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.29	gold quality
small intestine	UBERON:0002108	94.06	gold quality
pancreas	UBERON:0001264	94.03	gold quality
zone of skin	UBERON:0000014	93.91	gold quality
adipose tissue	UBERON:0001013	93.91	gold quality
adipose tissue of abdominal region	UBERON:0007808	93.84	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.49
E-HCAD-25	yes	9.37
E-MTAB-6108	no	203.94
E-CURD-112	no	2.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting HOOK2, 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-3163	100.00	77.23	8605
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-6873-5P	98.45	66.14	1417
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-1298-3P	94.05	64.84	620
HSA-MIR-9899	91.24	59.59	90

Literature-anchored findings (GeneRIF, showing 6)

• Hook2 contributes to the establishment and maintenance of the pericentrosomal localization of aggresomes by promoting the microtubule-based delivery of protein aggregates to pericentriolar aggresomes. (PMID:17540036)
• Results identify Hook2, a linker protein that is essential for regulation of the microtubule network at the centrosome, as a binding partner of CENP-F. (PMID:19793914)
• Hook2 localizes at the Golgi apparatus and centrosome/basal body, a strategic partitioning for ciliogenesis. Hook2 interacts with PCM1. (PMID:21998199)
• We first demonstrate that Hook2 is essential for the polarized Golgi re-orientation towards the migration front. Depletion of Hook2 results in a decrease of PAR6alpha at the centrosome during cell migration, while overexpression of Hook2 in cells induced the formation of aggresomes with the recruitment of PAR6alpha, aPKC and PAR3 (PMID:27624926)
• differential methylation profile of the HOOK2 gene in individuals with T2D and obesity might be related to the attendant T2D, but further studies are required to identify the potential role of HOOK2 gene in T2D disease (PMID:29228058)
• Coding Variants in HOOK2 and GTPBP3 May Contribute to Risk of Primary Angle Closure Glaucoma (PMID:32397755)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	hook2	ENSDARG00000039309
danio_rerio	HOOK2	ENSDARG00000099235
mus_musculus	Hook2	ENSMUSG00000052566
rattus_norvegicus	Hook2	ENSRNOG00000003682
drosophila_melanogaster	hook	FBGN0001202
drosophila_melanogaster	Girdin	FBGN0283724
caenorhabditis_elegans		WBGENE00006997
caenorhabditis_elegans		WBGENE00013082

Paralogs (5): CCDC88C (ENSG00000015133), CCDC88A (ENSG00000115355), HOOK1 (ENSG00000134709), CCDC88B (ENSG00000168071), HOOK3 (ENSG00000168172)

Protein

Protein identifiers

Protein Hook homolog 2 — Q96ED9 (reviewed: Q96ED9)

All UniProt accessions (9): Q96ED9, A0A7I2V5Y2, K7EJ48, K7EJ65, K7EJA7, K7EK29, K7EMG7, K7EMR5, K7ENU5

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). Contributes to the establishment and maintenance of centrosome function. May function in the positioning or formation of aggresomes, which are pericentriolar accumulations of misfolded proteins, proteasomes and chaperones. FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell.

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. May interact directly with AKTIP/FTS, HOOK1 and HOOK3. Associates with several subunits of the homotypic vesicular sorting complex (the HOPS complex) including VPS16 and VPS41; these interactions may be indirect. Interacts with CNTRL. Interacts with microtubules. Interacts with ZC3H14. Interacts with LRGUK (via guanylate kinase-like domain). Interacts with CCDC181. 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. Microtubule organizing center. Centrosome. Golgi apparatus. trans-Golgi network.

Similarity. Belongs to the hook family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96ED9-1	1	yes
Q96ED9-2	2

RefSeq proteins (9): NP_001093646, NP_001386970, NP_001386972, NP_001386973, NP_001386974, NP_001386975, NP_001386976, NP_001386977, NP_037444* (*=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 (16 total): region of interest 5, modified residue 3, sequence variant 2, coiled-coil region 2, chain 1, domain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96ED9-F1	82.81	0.52

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 (3): 230, 710, 163

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 678 (showing top): AHRARNT_01, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_LYSOSOMAL_TRANSPORT, GOBP_ENDOSOME_ORGANIZATION, HARRIS_HYPOXIA, GOBP_VACUOLE_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_RESPONSE_TO_PEPTIDE, GOBP_VESICLE_ORGANIZATION, ATACCTC_MIR202

GO Biological Process (9): endocytosis (GO:0006897), 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), protein localization to perinuclear region of cytoplasm (GO:1905719)

GO Molecular Function (4): microtubule binding (GO:0008017), identical protein binding (GO:0042802), dynein light intermediate chain binding (GO:0051959), protein binding (GO:0005515)

GO Cellular Component (9): cytoplasm (GO:0005737), trans-Golgi network (GO:0005802), centrosome (GO:0005813), cytosol (GO:0005829), microtubule (GO:0005874), FHF complex (GO:0070695), Golgi apparatus (GO:0005794), cytoskeleton (GO:0005856), HOPS complex (GO:0030897)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	4
vesicle-mediated transport	2
intracellular protein localization	2
protein binding	2
cellular anatomical structure	2
vesicle budding from membrane	1
membrane invagination	1
import into cell	1
endomembrane system organization	1
vesicle organization	1
lytic vacuole organization	1
lysosomal transport	1
intercellular 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
tubulin binding	1
binding	1
intracellular anatomical structure	1
Golgi apparatus subcompartment	1
centriole	1
microtubule organizing center	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
protein-containing complex	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
membrane protein complex	1
vesicle tethering complex	1

Protein interactions and networks

STRING

1462 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HOOK2	ZC3H14	Q6PJT7	838
HOOK2	AKTIP	Q9H8T0	710
HOOK2	RIMBP3	Q9UFD9	687
HOOK2	FHIP1B	Q8N612	664
HOOK2	F5H6H0	F5H6H0	609
HOOK2	DYNC1LI1	Q9Y6G9	589
HOOK2	MARK1	Q9P0L2	587
HOOK2	CNTRL	Q7Z7A1	551
HOOK2	BICDL2	A1A5D9	544
HOOK2	CLN3	Q13286	527
HOOK2	NDE1	Q9NXR1	517
HOOK2	RAB3IP	Q96QF0	517
HOOK2	RAB11A	P24410	514
HOOK2	FHIP2B	Q86V87	514
HOOK2	LRP8	Q14114	509

IntAct

155 interactions, top by confidence:

A	B	Type	Score
POC5	CETN3	psi-mi:“MI:0914”(association)	0.920
HOOK2	AKTIP	psi-mi:“MI:0915”(physical association)	0.850
AKTIP	HOOK2	psi-mi:“MI:0915”(physical association)	0.850
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
HOOK2	KANSL1	psi-mi:“MI:0915”(physical association)	0.670
HOOK2	SUV39H1	psi-mi:“MI:0915”(physical association)	0.670
KANSL1	HOOK2	psi-mi:“MI:0915”(physical association)	0.670
CETN1	SFI1	psi-mi:“MI:0914”(association)	0.640
HOOK2	CWF19L2	psi-mi:“MI:0915”(physical association)	0.560
HOOK2	UTP14C	psi-mi:“MI:0915”(physical association)	0.560
HOOK2	ZC2HC1C	psi-mi:“MI:0915”(physical association)	0.560
HOOK2	ANKRD36BP1	psi-mi:“MI:0915”(physical association)	0.560
AP1M1	HOOK2	psi-mi:“MI:0915”(physical association)	0.560
HOOK2	DUSP13B	psi-mi:“MI:0915”(physical association)	0.560
ANKRD36BP1	HOOK2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (262): HOOK2 (Two-hybrid), HOOK2 (Two-hybrid), HOOK2 (Two-hybrid), DUSP13 (Two-hybrid), ZC2HC1C (Two-hybrid), ANKRD36BP1 (Two-hybrid), CWF19L2 (Two-hybrid), KANSL1 (Two-hybrid), HOOK2 (Affinity Capture-MS), HOOK2 (Affinity Capture-MS), HOOK2 (Affinity Capture-MS), HOOK2 (Affinity Capture-MS), HOOK2 (Affinity Capture-MS), HOOK2 (Affinity Capture-MS), HOOK2 (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, Q6GQ73, Q7TMK6, Q86VS8, Q8BIL5, Q6VGS5, P85120, Q3V6T2, Q9P219, A0A2R8QCI3, Q5SNZ0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
HOOK2	up-regulates	CNTRL	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	270
Likely benign	29
Benign	14

Top pathogenic / likely-pathogenic (0)

SpliceAI

12817 predictions. Top by Δscore:

Variant	Effect	Δscore
19:12763524:TTACC:T	donor_loss	1.0000
19:12763525:TAC:T	donor_loss	1.0000
19:12763526:A:AC	donor_gain	1.0000
19:12763526:AC:A	donor_gain	1.0000
19:12763527:C:CT	donor_gain	1.0000
19:12763527:CC:C	donor_gain	1.0000
19:12763527:CCA:C	donor_gain	1.0000
19:12763527:CCAT:C	donor_gain	1.0000
19:12763527:CCATA:C	donor_gain	1.0000
19:12763600:C:CC	acceptor_gain	1.0000
19:12763690:T:TA	donor_gain	1.0000
19:12763691:C:A	donor_gain	1.0000
19:12763774:ATGAC:A	acceptor_gain	1.0000
19:12763775:TGAC:T	acceptor_gain	1.0000
19:12763776:GAC:G	acceptor_gain	1.0000
19:12763777:AC:A	acceptor_gain	1.0000
19:12763778:CC:C	acceptor_gain	1.0000
19:12763779:C:CC	acceptor_gain	1.0000
19:12763782:C:CT	acceptor_gain	1.0000
19:12763785:G:C	acceptor_gain	1.0000
19:12763786:T:C	acceptor_gain	1.0000
19:12763786:T:TC	acceptor_gain	1.0000
19:12764803:AGCGT:A	donor_gain	1.0000
19:12764807:T:TA	donor_gain	1.0000
19:12764812:A:AC	donor_gain	1.0000
19:12764812:AC:A	donor_gain	1.0000
19:12764812:ACCAT:A	donor_loss	1.0000
19:12764813:C:CA	donor_gain	1.0000
19:12764813:CC:C	donor_gain	1.0000
19:12764813:CCATG:C	donor_gain	1.0000

AlphaMissense

4640 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:12763372:G:C	F690L	0.994
19:12763372:G:T	F690L	0.994
19:12763374:A:G	F690L	0.994
19:12772624:C:G	A149P	0.993
19:12774726:G:C	F49L	0.992
19:12774726:G:T	F49L	0.992
19:12774728:A:G	F49L	0.992
19:12772640:C:A	Q143H	0.991
19:12772640:C:G	Q143H	0.991
19:12770966:C:G	A290P	0.990
19:12763539:A:G	W667R	0.989
19:12763539:A:T	W667R	0.989
19:12774821:A:G	L41P	0.989
19:12767887:C:G	R411P	0.988
19:12770935:A:G	L300P	0.988
19:12772628:C:A	M147I	0.988
19:12772628:C:G	M147I	0.988
19:12772628:C:T	M147I	0.988
19:12772665:A:G	I135T	0.988
19:12772803:G:T	A122D	0.988
19:12772812:A:G	L119P	0.988
19:12775407:A:G	W15R	0.988
19:12775407:A:T	W15R	0.988
19:12773034:A:G	L72P	0.987
19:12766223:A:G	L464P	0.986
19:12772824:A:G	L115P	0.986
19:12763542:C:G	A666P	0.985
19:12772656:A:G	L138P	0.985
19:12772827:A:G	L114P	0.985
19:12773004:T:G	Y82S	0.985

dbSNP variants (sampled 300 via entrez): RS1000203641 (19:12766879 G>A,C,T), RS1000217245 (19:12763973 T>A,C,G), RS1000249954 (19:12779222 C>T), RS1000580048 (19:12782457 G>A,C,T), RS1000891444 (19:12777440 A>G,T), RS1000901426 (19:12790070 C>T), RS1000960744 (19:12784008 C>A), RS1001137810 (19:12776272 C>A), RS1001230440 (19:12787380 C>T), RS1001261426 (19:12777769 A>C,T), RS1001278645 (19:12793554 T>C,G), RS1001431384 (19:12782739 C>G,T), RS1001516417 (19:12765081 C>T), RS1001521248 (19:12780501 C>A,T), RS1001569409 (19:12793185 T>C)

Disease associations

OMIM: gene MIM:607824 | disease phenotypes: MIM:181800

GenCC curated gene-disease

Mondo (1): scoliosis, isolated, susceptibility to, 1 (MONDO:0008419)

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST001315_1	Femoral neck bone geometry	3.000000e-06
GCST004611_150	High light scatter reticulocyte count	4.000000e-16
GCST004612_97	High light scatter reticulocyte percentage of red cells	1.000000e-21
GCST004625_208	Monocyte count	9.000000e-10
GCST90002386_67	High light scatter reticulocyte percentage of red cells	5.000000e-64
GCST90002387_45	Immature fraction of reticulocytes	3.000000e-18
GCST90002390_525	Mean corpuscular hemoglobin	1.000000e-20
GCST90002392_63	Mean corpuscular volume	3.000000e-33
GCST90002393_643	Monocyte count	2.000000e-13
GCST90002396_19	Mean reticulocyte volume	2.000000e-15
GCST90002397_188	Mean spheric corpuscular volume	3.000000e-17
GCST90002401_251	Platelet distribution width	3.000000e-09
GCST90002401_252	Platelet distribution width	3.000000e-21
GCST90002406_487	Reticulocyte fraction of red cells	1.000000e-17

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004511	femoral neck bone geometry
EFO:0007986	reticulocyte count
EFO:0005091	monocyte count
EFO:0004527	mean corpuscular hemoglobin
EFO:0010701	mean reticulocyte volume
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
Cyclosporine	decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
afuresertib	increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
bisphenol A	decreases methylation	1
beta-lapachone	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
cupric chloride	decreases expression	1
testosterone-3-carboxymethyloxime-bovine serum albumin conjugate	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	affects methylation, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Catechin	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methapyrilene	increases methylation	1

Clinical trials (associated diseases)

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