AK5

Summary

AK5 (adenylate kinase 5, HGNC:365) is a protein-coding gene on chromosome 1p31.1, encoding Adenylate kinase isoenzyme 5 (Q9Y6K8). Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates.

This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene.

Source: NCBI Gene 26289 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 89 total
• MANE Select transcript: NM_174858

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:365
Approved symbol	AK5
Name	adenylate kinase 5
Location	1p31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000154027
Ensembl biotype	protein_coding
OMIM	608009
Entrez	26289

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 4 protein_coding_CDS_not_defined, 4 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000317704, ENST00000344720, ENST00000354567, ENST00000465146, ENST00000466114, ENST00000466393, ENST00000469394, ENST00000478255, ENST00000478407, ENST00000524494, ENST00000527263, ENST00000530826, ENST00000531672

RefSeq mRNA: 2 — MANE Select: NM_174858 NM_012093, NM_174858

CCDS: CCDS675, CCDS676

Canonical transcript exons

ENST00000354567 — 14 exons

Exon	Start	End
ENSE00001218273	77340377	77340568
ENSE00001350830	77558602	77559966
ENSE00002275608	77282019	77282373
ENSE00003473773	77286941	77287127
ENSE00003501802	77297834	77297947
ENSE00003504003	77521827	77521943
ENSE00003516281	77297559	77297728
ENSE00003526108	77293793	77293960
ENSE00003533919	77410981	77411071
ENSE00003578233	77535847	77536038
ENSE00003591391	77486308	77486352
ENSE00003611289	77518564	77518727
ENSE00003626711	77483317	77483359
ENSE00003680507	77417639	77417715

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 99.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.0725 / max 803.8024, expressed in 1181 samples.

FANTOM5 promoters (17 alternative TSS)

Promoter ID	TPM avg	Samples expressed
3586	14.7992	1110
3594	2.2644	354
3587	1.4262	358
3585	0.9907	407
3583	0.7858	259
3581	0.5306	195
3592	0.2209	59
3602	0.1941	85
3589	0.1895	82
3590	0.1691	56

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	99.33	gold quality
superior frontal gyrus	UBERON:0002661	98.94	gold quality
CA1 field of hippocampus	UBERON:0003881	98.88	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.86	gold quality
postcentral gyrus	UBERON:0002581	98.81	gold quality
orbitofrontal cortex	UBERON:0004167	98.81	gold quality
prefrontal cortex	UBERON:0000451	98.52	gold quality
entorhinal cortex	UBERON:0002728	98.49	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.42	gold quality
parietal lobe	UBERON:0001872	98.37	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.97	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.88	gold quality
Ammon’s horn	UBERON:0001954	97.78	gold quality
endothelial cell	CL:0000115	97.68	gold quality
primary visual cortex	UBERON:0002436	97.59	gold quality
frontal cortex	UBERON:0001870	97.54	gold quality
temporal lobe	UBERON:0001871	97.35	gold quality
cingulate cortex	UBERON:0003027	96.96	gold quality
anterior cingulate cortex	UBERON:0009835	96.96	gold quality
neocortex	UBERON:0001950	96.95	gold quality
cerebral cortex	UBERON:0000956	96.89	gold quality
occipital lobe	UBERON:0002021	96.85	gold quality
amygdala	UBERON:0001876	96.69	gold quality
nucleus accumbens	UBERON:0001882	96.43	gold quality
telencephalon	UBERON:0001893	96.25	gold quality
right frontal lobe	UBERON:0002810	95.94	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.30	gold quality
corpus callosum	UBERON:0002336	95.25	gold quality
secondary oocyte	CL:0000655	94.70	gold quality
caudate nucleus	UBERON:0001873	93.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.47

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR4A3

miRNA regulators (miRDB)

50 targeting AK5, 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-5692A	100.00	74.40	6850
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-6073	99.60	70.36	793
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-19A-5P	99.36	66.93	1675
HSA-MIR-19B-1-5P	99.36	67.07	1669
HSA-MIR-19B-2-5P	99.36	67.07	1669
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-6739-3P	99.22	68.84	1843
HSA-MIR-196A-3P	99.19	67.34	1204
HSA-MIR-361-5P	98.95	70.16	1340
HSA-MIR-374A-3P	98.87	67.82	1531

Literature-anchored findings (GeneRIF, showing 4)

• Data demonstrate that human adenylate kinase 5 has two separate functional domains and that both have enzymatic activity. (PMID:19647735)
• Results indicate that AK5 expression significantly decreased in temporal lobe epilepsy: the expression of AK5 in epileptic brain tissue may play important roles in epilepsy, especially refractory epilepsy (PMID:27288770)
• AK5, a novel prognosis marker, inhibits apoptosis and promotes autophagy as well as proliferation in human gastric cancer. (PMID:31799658)
• Identification of novel DNA hypermethylation of the adenylate kinase 5 promoter in colorectal adenocarcinoma. (PMID:34135408)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ak5l	ENSDARG00000017739
mus_musculus	Ak5	ENSMUSG00000039058
rattus_norvegicus	Ak5	ENSRNOG00000046947
drosophila_melanogaster	CG9541	FBGN0032083
caenorhabditis_elegans		WBGENE00008746

Paralogs (9): AK2 (ENSG00000004455), AK1 (ENSG00000106992), AK7 (ENSG00000140057), AK3 (ENSG00000147853), AK9 (ENSG00000155085), CMPK1 (ENSG00000162368), AK4 (ENSG00000162433), AK8 (ENSG00000165695), AK4P3 (ENSG00000233381)

Protein

Protein identifiers

Adenylate kinase isoenzyme 5 — Q9Y6K8 (reviewed: Q9Y6K8)

Alternative names: ATP-AMP transphosphorylase 5

All UniProt accessions (4): Q9Y6K8, E9PIS7, E9PQQ8, H0YEZ1

UniProt curated annotations — full annotation on UniProt →

Function. Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Active on AMP and dAMP with ATP as a donor. When GTP is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP. Also displays broad nucleoside diphosphate kinase activity.

Subunit / interactions. Monomer. Interacts with YWHAZ.

Subcellular location. Cytoplasm.

Tissue specificity. Brain specific.

Miscellaneous. It is unsure whether Met-1 or Met-5 is the initiator.

Similarity. Belongs to the adenylate kinase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y6K8-1	1	yes
Q9Y6K8-2	2
Q9Y6K8-3	3, Adenylate kinase 6

RefSeq proteins (2): NP_036225, NP_777283* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000850	Adenylat/UMP-CMP_kin	Family
IPR006267	AK1/5	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR033690	Adenylat_kinase_CS	Conserved_site

Pfam: PF00406

Enzyme classification (BRENDA):

• EC 2.7.4.3 — adenylate kinase (BRENDA: 73 organisms, 259 substrates, 134 inhibitors, 192 Km, 47 kcat entries)

Substrate kinetics (BRENDA)

9 substrates with measured Km, best-characterized 9. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
AMP	0.0014–1.9	59
ATP	0.0001–7	58
ADP	0.003–16.8	27
2 ADP	0.006–0.15	5
DAMP	0.507–2	2
2’-DAMP	0.85	1
7-DEAZAADENOSINE 5’-MONOPHOSPHATE	0.73	1
ADP3-	0.03	1
CMP	0.0002	1

Catalyzed reactions (Rhea), 3 shown:

• AMP + ATP = 2 ADP (RHEA:12973)
• a ribonucleoside 5’-diphosphate + ATP = a ribonucleoside 5’-triphosphate + ADP (RHEA:18113)
• a 2’-deoxyribonucleoside 5’-diphosphate + ATP = a 2’-deoxyribonucleoside 5’-triphosphate + ADP (RHEA:44640)

UniProt features (49 total): binding site 17, helix 9, sequence conflict 8, region of interest 6, strand 5, splice variant 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2BWJ	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6K8-F1	78.51	0.43

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 (17): 219–222; 226; 257; 263; 274; 386–391; 407; 412; 433–435; 462–465; 469; 500 …

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-499943	Interconversion of nucleotide di- and triphosphates
R-HSA-1430728	Metabolism
R-HSA-15869	Metabolism of nucleotides

MSigDB gene sets: 190 (showing top): GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, LEE_NAIVE_T_LYMPHOCYTE, GOBP_PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS, AP1_Q4_01, ROZANOV_MMP14_TARGETS_UP, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_DN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, TCF11_01, GOBP_PYRIMIDINE_CONTAINING_COMPOUND_METABOLIC_PROCESS

GO Biological Process (8): ADP biosynthetic process (GO:0006172), dADP biosynthetic process (GO:0006173), pyrimidine ribonucleotide biosynthetic process (GO:0009220), ATP metabolic process (GO:0046034), nucleobase-containing compound metabolic process (GO:0006139), nucleotide metabolic process (GO:0009117), nucleoside monophosphate metabolic process (GO:0009123), nucleoside monophosphate phosphorylation (GO:0046940)

GO Molecular Function (8): AMP kinase activity (GO:0004017), nucleoside diphosphate kinase activity (GO:0004550), ATP binding (GO:0005524), nucleotide binding (GO:0000166), kinase activity (GO:0016301), transferase activity (GO:0016740), phosphotransferase activity, phosphate group as acceptor (GO:0016776), nucleobase-containing compound kinase activity (GO:0019205)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), centriolar satellite (GO:0034451)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of nucleotides	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nucleoside phosphate metabolic process	2
transferase activity, transferring phosphorus-containing groups	2
purine ribonucleotide biosynthetic process	1
purine ribonucleoside diphosphate biosynthetic process	1
ADP metabolic process	1
purine deoxyribonucleotide biosynthetic process	1
purine deoxyribonucleoside diphosphate biosynthetic process	1
deoxyribonucleoside diphosphate biosynthetic process	1
dADP metabolic process	1
pyrimidine nucleotide biosynthetic process	1
pyrimidine ribonucleotide metabolic process	1
ribonucleotide biosynthetic process	1
purine ribonucleotide metabolic process	1
purine ribonucleoside triphosphate metabolic process	1
primary metabolic process	1
nucleoside monophosphate metabolic process	1
nucleotide biosynthetic process	1
nucleoside monophosphate kinase activity	1
phosphotransferase activity, phosphate group as acceptor	1
nucleobase-containing compound kinase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
kinase activity	1
intracellular anatomical structure	1
cytoplasm	1
centrosome	1

Protein interactions and networks

STRING

3371 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AK5	AK7	Q96M32	735
AK5	CPNE6	O95741	622
AK5	AK2	P54819	567
AK5	FBXL13	Q8NEE6	560
AK5	AK6	Q9Y3D8	528
AK5	IGLON5	A6NGN9	527
AK5	TRIM46	Q7Z4K8	500
AK5	DPYSL5	Q9BPU6	490
AK5	AK3	Q9UIJ7	483
AK5	BRSK2	Q8IWQ3	465
AK5	STXBP3	O00186	453
AK5	AK9	Q5TCS8	431
AK5	NME3	Q13232	425
AK5	NME7	Q9Y5B8	419
AK5	PNMA2	Q9UL42	417

IntAct

9 interactions, top by confidence:

A	B	Type	Score
AK5	YWHAZ	psi-mi:“MI:0915”(physical association)	0.400
PB2		psi-mi:“MI:0914”(association)	0.350
INTS15	AK5	psi-mi:“MI:0915”(physical association)	0.000
AK5	CPNE6	psi-mi:“MI:0915”(physical association)	0.000
NUCKS1	AK5	psi-mi:“MI:0915”(physical association)	0.000
STRN4	AK5	psi-mi:“MI:0915”(physical association)	0.000
TRIM46	AK5	psi-mi:“MI:0915”(physical association)	0.000
UGDH	AK5	psi-mi:“MI:0915”(physical association)	0.000
RNF114	AK5	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (15): AK5 (Two-hybrid), AK5 (Two-hybrid), AK5 (Two-hybrid), AK5 (Two-hybrid), AK5 (Two-hybrid), AK5 (Two-hybrid), AK5 (Two-hybrid), AK5 (Affinity Capture-RNA), AK5 (Positive Genetic), CMPK1 (Negative Genetic), AK5 (Affinity Capture-MS), AK5 (Protein-peptide), AK5 (Affinity Capture-MS), AK5 (Affinity Capture-MS), AK5 (Affinity Capture-MS)

ESM2 similar proteins: A0A4X1T4U3, A4IFD0, O00329, O14936, O35904, O61069, O65583, O70589, P07953, P16118, P25114, P49872, P70266, Q13057, Q16875, Q16877, Q24210, Q28901, Q298L5, Q2UM43, Q32M07, Q4R3W4, Q4R8B6, Q4V8A1, Q502L7, Q5B5L3, Q5M7G4, Q5R9C1, Q623S8, Q62915, Q68FP8, Q6DGQ8, Q6DTY7, Q6P618, Q80UN9, Q8IMX7, Q8MIR4, Q91309, Q91348, Q91YL3

Diamond homologs: A0ALU7, A0RQ72, A1VYZ9, A2BTB8, A2BYR7, A3PF28, A4J592, A4QBP4, A5GIS6, A5GVX9, A6L0Z9, A6Q322, A6QAE9, A7GXF6, A7H4H3, A7HWT2, A7I057, A7IPP9, A7ZEH4, A8FL60, A8G742, A9BCM8, B0RP52, B1MVZ4, B1VEX6, B2FT48, B2RIY8, B2UTK9, B4SI37, B5E6H6, B5Z6Y9, B8DB29, B9KFZ2, B9L9Y8, C0R000, C1KZF9, C3PL31, C4LL05, G4V9S0, O04905

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	4
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

2856 predictions. Top by Δscore:

Variant	Effect	Δscore
1:77282334:G:GT	donor_gain	1.0000
1:77293791:A:AG	acceptor_gain	1.0000
1:77293792:G:GA	acceptor_gain	1.0000
1:77293792:GTAAT:G	acceptor_gain	1.0000
1:77293905:G:GT	donor_gain	1.0000
1:77293905:GGA:G	donor_gain	1.0000
1:77293906:GAG:G	donor_gain	1.0000
1:77297829:A:AG	acceptor_gain	1.0000
1:77297829:AAAAG:A	acceptor_gain	1.0000
1:77297948:G:GG	donor_gain	1.0000
1:77313901:GCCT:G	donor_gain	1.0000
1:77340565:GACA:G	donor_gain	1.0000
1:77340569:G:GG	donor_gain	1.0000
1:77410968:T:A	acceptor_gain	1.0000
1:77410976:CCCA:C	acceptor_loss	1.0000
1:77410979:A:AG	acceptor_gain	1.0000
1:77410979:AGTT:A	acceptor_loss	1.0000
1:77410979:AGTTT:A	acceptor_gain	1.0000
1:77410980:G:GT	acceptor_gain	1.0000
1:77410980:GT:G	acceptor_gain	1.0000
1:77410980:GTT:G	acceptor_gain	1.0000
1:77410980:GTTT:G	acceptor_gain	1.0000
1:77410980:GTTTG:G	acceptor_gain	1.0000
1:77411068:GCAG:G	donor_gain	1.0000
1:77411069:CAGGT:C	donor_loss	1.0000
1:77411070:AGG:A	donor_loss	1.0000
1:77411072:G:GG	donor_gain	1.0000
1:77411073:T:A	donor_loss	1.0000
1:77417637:A:AG	acceptor_gain	1.0000
1:77417638:G:GG	acceptor_gain	1.0000

AlphaMissense

3710 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:77297643:T:C	L167S	1.000
1:77297681:T:A	W180R	1.000
1:77297681:T:C	W180R	1.000
1:77297683:G:C	W180C	1.000
1:77297683:G:T	W180C	1.000
1:77297711:G:A	G190R	1.000
1:77297711:G:C	G190R	1.000
1:77297712:G:A	G190E	1.000
1:77297712:G:T	G190V	1.000
1:77297721:C:A	A193D	1.000
1:77297895:T:A	V216D	1.000
1:77297904:G:A	G219E	1.000
1:77297910:C:A	P221Q	1.000
1:77286945:T:C	L22P	0.999
1:77286957:T:C	L26P	0.999
1:77293867:A:C	S108R	0.999
1:77293869:T:A	S108R	0.999
1:77293869:T:G	S108R	0.999
1:77293960:G:C	G139R	0.999
1:77297559:G:A	G139D	0.999
1:77297562:G:A	G140D	0.999
1:77297568:G:A	G142E	0.999
1:77297570:A:C	S143R	0.999
1:77297572:T:A	S143R	0.999
1:77297572:T:G	S143R	0.999
1:77297574:G:A	G144E	0.999
1:77297576:A:C	K145Q	0.999
1:77297578:G:C	K145N	0.999
1:77297578:G:T	K145N	0.999
1:77297633:G:A	G164R	0.999

dbSNP variants (sampled 300 via entrez): RS1000008430 (1:77551192 C>G), RS1000012205 (1:77434254 G>C), RS1000026381 (1:77538912 A>G), RS1000034177 (1:77457573 C>T), RS1000036472 (1:77298575 G>A), RS1000043197 (1:77520681 A>T), RS1000061477 (1:77372284 T>G), RS1000081071 (1:77479798 G>A), RS1000084876 (1:77426883 C>G,T), RS1000100137 (1:77507912 T>A), RS1000121255 (1:77323200 C>G,T), RS1000138164 (1:77421219 T>A,C), RS1000152852 (1:77384853 G>A), RS1000153747 (1:77322921 T>C), RS1000163054 (1:77281933 G>A,C,T)

Disease associations

OMIM: gene MIM:608009 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST002783_151	Body mass index	7.000000e-06
GCST002783_204	Body mass index	7.000000e-06
GCST003429_14	Morning vs. evening chronotype	8.000000e-12
GCST003453_4	Chronotype	2.000000e-12
GCST003454_3	Morning vs. evening chronotype	2.000000e-09
GCST003837_2	Chronotype	2.000000e-21
GCST003838_2	Morning vs. evening chronotype	1.000000e-12
GCST003982_2	Sleep traits (multi-trait analysis)	1.000000e-09
GCST004125_10	Type 2 diabetes (age of onset)	8.000000e-06
GCST004600_61	Eosinophil percentage of white cells	4.000000e-09
GCST004744_76	Lung adenocarcinoma	3.000000e-10
GCST004748_63	Lung cancer	3.000000e-11
GCST004749_58	Lung cancer in ever smokers	2.000000e-08
GCST006586_44	Urinary albumin excretion	2.000000e-08
GCST007565_94	Morning person	4.000000e-40
GCST007565_98	Morning person	5.000000e-45
GCST007576_297	Chronotype	5.000000e-45
GCST008058_32	Estimated glomerular filtration rate	6.000000e-11
GCST009524_136	Household income (MTAG)	5.000000e-08
GCST009640_4	Urinary albumin-to-creatinine ratio	3.000000e-08
GCST90002386_367	High light scatter reticulocyte percentage of red cells	1.000000e-12
GCST90002387_227	Immature fraction of reticulocytes	1.000000e-09
GCST90002396_136	Mean reticulocyte volume	5.000000e-10

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0007875	excessive daytime sleepiness measurement
EFO:0007876	insomnia measurement
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004285	albuminuria
EFO:0008328	chronotype measurement
EFO:0009695	household income
EFO:0007778	urinary albumin to creatinine ratio
EFO:0010701	mean reticulocyte volume

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
(+)-JQ1 compound	decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
methylmercuric chloride	decreases expression	1
bisphenol A	affects cotreatment, increases methylation	1
terbufos	increases methylation	1
trichostatin A	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
afimoxifene	decreases response to substance	1
potassium chromate(VI)	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	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, decreases expression	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
NSC 689534	affects binding, decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Dasatinib	decreases expression	1
Zoledronic Acid	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Azacitidine	increases expression	1
Calcitriol	decreases expression	1
Copper	affects binding, decreases expression	1
Bucladesine	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Fonofos	increases methylation	1

Clinical trials (associated diseases)

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