DENND4A

Summary

DENND4A (DENN domain containing 4A, HGNC:24321) is a protein-coding gene on chromosome 15q22.31, encoding C-myc promoter-binding protein (Q7Z401). Probable guanine nucleotide exchange factor (GEF) which may activate RAB10.

This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.

Source: NCBI Gene 10260 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 186 total — 1 likely-pathogenic
• MANE Select transcript: NM_001320835

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24321
Approved symbol	DENND4A
Name	DENN domain containing 4A
Location	15q22.31
Locus type	gene with protein product
Status	Approved
Aliases	IRLB
Ensembl gene	ENSG00000174485
Ensembl biotype	protein_coding
OMIM	600382
Entrez	10260

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000431932, ENST00000443035, ENST00000561863, ENST00000562028, ENST00000562540, ENST00000564674, ENST00000567323, ENST00000568515, ENST00000635620, ENST00000862744, ENST00000862745, ENST00000939798

RefSeq mRNA: 5 — MANE Select: NM_001320835 NM_001144823, NM_001320835, NM_001376919, NM_001376920, NM_005848

CCDS: CCDS45285, CCDS92025

Canonical transcript exons

ENST00000443035 — 33 exons

Exon	Start	End
ENSE00000885262	65664560	65664722
ENSE00000885263	65665345	65665462
ENSE00001200260	65706091	65706224
ENSE00001200263	65715478	65715623
ENSE00001200285	65702873	65703008
ENSE00001268715	65667449	65667703
ENSE00001268723	65667925	65668123
ENSE00001268728	65669779	65669925
ENSE00001268733	65670013	65670188
ENSE00001268736	65671792	65671886
ENSE00001268744	65676445	65676634
ENSE00001268749	65690415	65691511
ENSE00001268755	65696366	65696497
ENSE00001268784	65701762	65701890
ENSE00001268791	65702305	65702511
ENSE00001268917	65659123	65661987
ENSE00001353705	65761360	65761438
ENSE00001353715	65792010	65792293
ENSE00003474145	65729534	65729678
ENSE00003475525	65731642	65731700
ENSE00003507199	65738706	65738875
ENSE00003524223	65701051	65701192
ENSE00003527182	65722848	65722948
ENSE00003528421	65664330	65664394
ENSE00003542774	65752379	65752628
ENSE00003573919	65732752	65732818
ENSE00003601045	65741715	65741784
ENSE00003615058	65697267	65697383
ENSE00003651386	65717778	65717996
ENSE00003666732	65729072	65729247
ENSE00003688150	65756140	65756472
ENSE00003689131	65737707	65737945
ENSE00003789017	65700544	65700675

Expression profiles

Bgee: expression breadth ubiquitous, 237 present calls, max score 94.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.2059 / max 1031.2089, expressed in 1755 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
150566	14.3356	1552
150569	2.7215	1356
150560	2.6298	454
150567	0.8745	418
150568	0.3889	182
150570	0.2556	76

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	94.42	gold quality
adrenal tissue	UBERON:0018303	90.82	gold quality
body of pancreas	UBERON:0001150	89.70	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.50	gold quality
cerebellar hemisphere	UBERON:0002245	88.65	gold quality
cerebellar cortex	UBERON:0002129	88.52	gold quality
sural nerve	UBERON:0015488	88.47	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.24	gold quality
pancreas	UBERON:0001264	87.79	gold quality
colonic epithelium	UBERON:0000397	87.46	gold quality
right lobe of liver	UBERON:0001114	87.33	gold quality
islet of Langerhans	UBERON:0000006	86.99	gold quality
adenohypophysis	UBERON:0002196	86.96	gold quality
left ovary	UBERON:0002119	86.75	gold quality
monocyte	CL:0000576	86.55	gold quality
leukocyte	CL:0000738	86.33	gold quality
cerebellum	UBERON:0002037	86.33	gold quality
mononuclear cell	CL:0000842	86.22	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.00	gold quality
left adrenal gland cortex	UBERON:0035825	85.95	gold quality
bone marrow	UBERON:0002371	85.80	gold quality
left adrenal gland	UBERON:0001234	85.79	gold quality
right ovary	UBERON:0002118	85.69	gold quality
right lung	UBERON:0002167	85.25	gold quality
adrenal gland	UBERON:0002369	85.17	gold quality
right adrenal gland	UBERON:0001233	85.00	gold quality
pituitary gland	UBERON:0000007	84.84	gold quality
right adrenal gland cortex	UBERON:0035827	84.80	gold quality
cortical plate	UBERON:0005343	84.73	gold quality
bone marrow cell	CL:0002092	84.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	4.98
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
ERBB2	Repression

miRNA regulators (miRDB)

175 targeting DENND4A, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-8485	100.00	77.57	4731
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-5696	99.98	72.36	4487

Literature-anchored findings (GeneRIF, showing 1)

• our data reveal that TDP-43 can function as an mRNA-specific translational enhancer. Moreover, since CAMTA1 and DENND4A are linked to neurodegeneration, they suggest that this function could contribute to disease. (PMID:30357366)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dennd4a	ENSMUSG00000053641
rattus_norvegicus	Dennd4a	ENSRNOG00000011739

Paralogs (3): DENND3 (ENSG00000105339), DENND4C (ENSG00000137145), DENND4B (ENSG00000198837)

Protein

Protein identifiers

C-myc promoter-binding protein — Q7Z401 (reviewed: Q7Z401)

Alternative names: DENN domain-containing protein 4A

All UniProt accessions (5): Q7Z401, A0A0U1RR27, A0A7I2RAZ6, H3BSA0, H3BTW5

UniProt curated annotations — full annotation on UniProt →

Function. Probable guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. According to PubMed:8056341, it may bind to ISRE-like element (interferon-stimulated response element) of MYC P2 promoter.

Subcellular location. Nucleus.

Tissue specificity. Expressed ubiquitously. Highest expression in bone marrow, medium in peripheral blood lymphocytes and lowest in spleen. In brain, breast, and prostate, higher expression was seen in normal cells than in tumor cells. Expression is regulated in a growth- and cell cycle-dependent manner.

Induction. By serum in low-passage fibroblasts.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z401-1	1	yes
Q7Z401-2	2

RefSeq proteins (5): NP_001138295, NP_001307764, NP_001363848, NP_001363849, NP_005839 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001194	cDENN_dom	Domain
IPR002885	PPR_rpt	Repeat
IPR005112	dDENN_dom	Domain
IPR005113	uDENN_dom	Domain
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR023341	MABP	Domain
IPR037516	Tripartite_DENN	Domain
IPR043153	DENN_C	Homologous_superfamily
IPR051696	DENN_Domain_GEFs	Family

Pfam: PF02141, PF03455, PF03456

UniProt features (39 total): modified residue 14, region of interest 5, compositionally biased region 5, sequence conflict 5, domain 4, repeat 2, chain 1, short sequence motif 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z401-F1	65.22	0.28

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 (14): 731, 1015, 1035, 1099, 1151, 1152, 1225, 1240, 1251, 1281, 1508, 1587, 1589, 1591

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport
R-HSA-9007101	Rab regulation of trafficking

MSigDB gene sets: 238 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, GRUETZMANN_PANCREATIC_CANCER_DN, AREB6_03, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, TATTATA_MIR374, REACTOME_MEMBRANE_TRAFFICKING, AAAYRNCTG_UNKNOWN, YY1_Q6, MORF_RAF1, YY1_02, TGIF_01, GCM_DDX11, GCM_NF2, CREBP1_01, SOX5_01

GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), regulation of Rab protein signal transduction (GO:0032483)

GO Molecular Function (3): DNA binding (GO:0003677), guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasmic vesicle (GO:0031410), ESCRT I complex (GO:0000813)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Rab regulation of trafficking	1
Vesicle-mediated transport	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
Rab protein signal transduction	1
regulation of small GTPase mediated signal transduction	1
nucleic acid binding	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
intracellular vesicle	1
endosome membrane	1
ESCRT complex	1
membrane protein complex	1

Protein interactions and networks

STRING

686 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DENND4A	RAB10	P61026	520
DENND4A	TAF1D	Q9H5J8	489
DENND4A	ANKRD55	Q3KP44	487
DENND4A	SYNGR4	O95473	467
DENND4A	PDILT	Q8N807	466
DENND4A	MYC	P01106	466
DENND4A	CAMTA1	Q9Y6Y1	464
DENND4A	RAP1GDS1	P52306	437
DENND4A	FBXL4	Q9UKA2	436
DENND4A	HACD3	Q9P035	418
DENND4A	C1orf159	Q96HA4	418
DENND4A	PARP4	Q9UKK3	404
DENND4A	INTS14	Q96SY0	399
DENND4A	CHD7	Q9P2D1	396
DENND4A	IGDCC4	Q8TDY8	368

IntAct

122 interactions, top by confidence:

A	B	Type	Score
DENND4A	YWHAG	psi-mi:“MI:0915”(physical association)	0.900
DENND4A	YWHAB	psi-mi:“MI:0915”(physical association)	0.900
YWHAQ	WDR62	psi-mi:“MI:0914”(association)	0.830
YWHAZ	DENND4A	psi-mi:“MI:0915”(physical association)	0.820
YWHAH	ABLIM1	psi-mi:“MI:0914”(association)	0.800
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
YWHAB	WDR62	psi-mi:“MI:0914”(association)	0.770
VPS29	VPS26C	psi-mi:“MI:0914”(association)	0.760
PTPRA	LGALS1	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAZ	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
NEURL4	APBB1	psi-mi:“MI:0914”(association)	0.530
METTL6	TYW5	psi-mi:“MI:0914”(association)	0.530
SCRN1	CCDC85C	psi-mi:“MI:0914”(association)	0.530
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAB	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAE	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	SHTN1	psi-mi:“MI:0914”(association)	0.530
MAP4K4	STRN	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530

BioGRID (126): DENND4A (Affinity Capture-MS), DENND4A (Biochemical Activity), DENND4A (Affinity Capture-MS), DENND4A (Affinity Capture-MS), DENND4A (Affinity Capture-MS), DENND4A (Affinity Capture-MS), DENND4A (Affinity Capture-MS), DENND4A (Affinity Capture-MS), KCTD3 (Affinity Capture-MS), KIF13B (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), KSR1 (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), LRFN1 (Affinity Capture-MS), CGN (Affinity Capture-MS)

ESM2 similar proteins: A0A571BF63, A0JMA8, A1A535, A1A5P5, A1ZBE8, A6H8H2, A8XSV3, B0BF33, B2RS91, E7F187, O17237, O43150, P25054, P30630, Q05B30, Q09263, Q14156, Q14738, Q14D04, Q19317, Q1AAU6, Q21106, Q2KI89, Q5PQS3, Q5R4N9, Q5R629, Q5RAY1, Q5SPP5, Q5U245, Q5VZ89, Q61315, Q61QK6, Q620W3, Q641A2, Q6ZQ18, Q7SIG6, Q7Z3E5, Q7Z401, Q7Z7A4, Q8BG67

Diamond homologs: A6H8H2, G2WWH6, O75064, Q3U1Y4, Q5VZ89, Q7Z401, Q9W3D3, E9PXF8, I1RQE2, O02626, O95248, P78524, Q3U1T9, Q68D51, Q68F67, Q6NTN5, Q6P3S1, Q6ZPE2, Q86WG5, Q8C4S8, Q8CFK6, Q8IV53, Q8K382, Q8TEH3, Q91VV4, Q924W7, Q9H6A0, Q9TXP3, Q9ULE3, Q9Y7Q7, X0JZ91, Q80U28, Q9VXY2, O08873, Q8WXG6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 102 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
Activation of BAD and translocation to mitochondria	7	73.0×	5e-10
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	64.4×	7e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	64.4×	7e-10
Activation of BH3-only proteins	7	47.6×	6e-09
RHO GTPases activate PKNs	7	30.4×	1e-07
Intrinsic Pathway for Apoptosis	7	28.1×	2e-07
FOXO-mediated transcription	5	23.0×	5e-05
SARS-CoV-1-host interactions	8	19.2×	3e-07

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	23.1×	5e-05
substantia nigra development	6	23.1×	5e-05
long-term synaptic potentiation	5	14.8×	2e-03
cerebral cortex development	5	10.8×	4e-03
intracellular protein localization	8	8.8×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	150
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3065495	NM_001320835.1(DENND4A):c.2088C>G (p.Ser696Arg)	Likely pathogenic

SpliceAI

5666 predictions. Top by Δscore:

Variant	Effect	Δscore
15:65661985:CAT:C	acceptor_gain	1.0000
15:65661997:T:C	acceptor_gain	1.0000
15:65661997:T:TC	acceptor_gain	1.0000
15:65662000:A:AC	acceptor_gain	1.0000
15:65662000:A:C	acceptor_gain	1.0000
15:65664392:CTC:C	acceptor_gain	1.0000
15:65665198:C:CC	donor_gain	1.0000
15:65665198:CT:C	donor_gain	1.0000
15:65665343:A:AC	donor_gain	1.0000
15:65665344:C:CC	donor_gain	1.0000
15:65665344:CT:C	donor_gain	1.0000
15:65665459:GAATC:G	acceptor_loss	1.0000
15:65665461:ATCT:A	acceptor_loss	1.0000
15:65665462:TCTGT:T	acceptor_loss	1.0000
15:65665463:C:CG	acceptor_loss	1.0000
15:65665464:T:C	acceptor_loss	1.0000
15:65667928:AGCT:A	donor_gain	1.0000
15:65668125:T:C	acceptor_gain	1.0000
15:65668132:T:C	acceptor_gain	1.0000
15:65668132:T:TC	acceptor_gain	1.0000
15:65670015:T:A	donor_gain	1.0000
15:65670189:C:CA	acceptor_loss	1.0000
15:65670189:C:CC	acceptor_gain	1.0000
15:65671793:T:TA	donor_gain	1.0000
15:65671892:CAT:C	acceptor_gain	1.0000
15:65671894:T:C	acceptor_gain	1.0000
15:65671894:T:TC	acceptor_gain	1.0000
15:65671897:G:C	acceptor_gain	1.0000
15:65671897:G:GC	acceptor_gain	1.0000
15:65676465:T:A	donor_gain	1.0000

AlphaMissense

12602 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:65661970:A:C	Y1825D	1.000
15:65665408:A:G	W1722R	1.000
15:65665408:A:T	W1722R	1.000
15:65667534:A:G	L1675P	1.000
15:65667618:A:G	L1647P	1.000
15:65667641:A:C	S1639R	1.000
15:65667641:A:T	S1639R	1.000
15:65667643:T:G	S1639R	1.000
15:65670074:A:G	C1483R	1.000
15:65670081:G:C	C1480W	1.000
15:65670083:A:G	C1480R	1.000
15:65670116:A:G	W1469R	1.000
15:65670116:A:T	W1469R	1.000
15:65670164:A:G	C1453R	1.000
15:65702457:A:G	W760R	1.000
15:65702457:A:T	W760R	1.000
15:65729589:A:G	L419P	1.000
15:65752467:A:T	V158D	1.000
15:65661883:A:G	C1854R	0.999
15:65661906:G:C	P1846R	0.999
15:65661906:G:T	P1846Q	0.999
15:65661912:T:A	D1844V	0.999
15:65661912:T:G	D1844A	0.999
15:65661913:C:A	D1844Y	0.999
15:65661913:C:G	D1844H	0.999
15:65661948:A:G	L1832P	0.999
15:65661980:A:C	F1821L	0.999
15:65661980:A:T	F1821L	0.999
15:65661981:A:G	F1821S	0.999
15:65661982:A:G	F1821L	0.999

dbSNP variants (sampled 300 via entrez): RS1000005880 (15:65677989 A>G), RS1000009203 (15:65768883 A>C,G), RS1000060071 (15:65732518 G>T), RS1000063275 (15:65768694 A>T), RS1000074725 (15:65727085 GGGA>G), RS1000076957 (15:65777045 G>C), RS1000102639 (15:65712603 T>C), RS1000116406 (15:65715052 C>G), RS1000130640 (15:65719308 A>G), RS1000148223 (15:65769112 T>C,G), RS1000196732 (15:65763272 A>G), RS1000202723 (15:65712033 A>G), RS1000211757 (15:65707133 C>T), RS1000244333 (15:65706838 C>T), RS1000258203 (15:65734138 G>A)

Disease associations

OMIM: gene MIM:600382 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000587_7	Mean corpuscular hemoglobin	3.000000e-09
GCST001765_17	Red blood cell traits	3.000000e-09
GCST004601_176	Red blood cell count	5.000000e-17
GCST004602_212	Mean corpuscular volume	3.000000e-49
GCST004605_5	Mean corpuscular hemoglobin concentration	1.000000e-32
GCST004615_100	Hemoglobin concentration	5.000000e-09
GCST004630_161	Mean corpuscular hemoglobin	8.000000e-18
GCST004630_162	Mean corpuscular hemoglobin	8.000000e-76
GCST005141_23	Cognitive ability (MTAG)	2.000000e-10
GCST005316_497	Intelligence (MTAG)	4.000000e-09
GCST005316_545	Intelligence (MTAG)	5.000000e-10
GCST005992_19	Mean corpuscular hemoglobin concentration	8.000000e-11
GCST005993_11	Mean corpuscular hemoglobin	4.000000e-28
GCST006011_43	Mean corpuscular volume	3.000000e-21
GCST007006_14	Logical memory (delayed recall) in normal cognition	8.000000e-07
GCST008058_184	Estimated glomerular filtration rate	2.000000e-06
GCST008595_93	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	1.000000e-09
GCST010083_124	Hemoglobin levels	3.000000e-11
GCST90002384_385	Hemoglobin	1.000000e-12
GCST90002386_598	High light scatter reticulocyte percentage of red cells	4.000000e-09
GCST90002393_607	Monocyte count	3.000000e-18
GCST90002394_493	Monocyte percentage of white cells	4.000000e-34
GCST90002398_285	Neutrophil count	4.000000e-16
GCST90002399_366	Neutrophil percentage of white cells	5.000000e-17
GCST90002405_339	Reticulocyte count	1.000000e-10
GCST90002406_388	Reticulocyte fraction of red cells	1.000000e-20

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0004874	memory performance
EFO:0005091	monocyte count
EFO:0007989	monocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0007990	neutrophil percentage of leukocytes
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, affects cotreatment	7
bisphenol A	decreases methylation, decreases expression, increases methylation, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Silicon Dioxide	decreases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
aminomethylphosphonic acid (AMPA)	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
cypermethrin	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	increases phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
cylindrospermopsin	increases expression	1
2-palmitoylglycerol	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
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
(+)-JQ1 compound	increases expression	1
Bortezomib	increases expression	1
Irinotecan	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1

Clinical trials (associated diseases)

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