AATK

Summary

AATK (apoptosis associated tyrosine kinase, HGNC:21) is a protein-coding gene on chromosome 17q25.3, encoding Serine/threonine-protein kinase LMTK1 (Q6ZMQ8). May be involved in neuronal differentiation.

The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 9625 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 344 total — 3 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_001080395

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21
Approved symbol	AATK
Name	apoptosis associated tyrosine kinase
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77
Ensembl gene	ENSG00000181409
Ensembl biotype	protein_coding
OMIM	605276
Entrez	9625

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000326724, ENST00000374792, ENST00000417379, ENST00000570932, ENST00000572339, ENST00000572798, ENST00000573441, ENST00000573469, ENST00000575363, ENST00000576053, ENST00000650574, ENST00000867059

RefSeq mRNA: 2 — MANE Select: NM_001080395 NM_001080395, NM_004920

CCDS: CCDS45807, CCDS58607

Canonical transcript exons

ENST00000326724 — 14 exons

Exon	Start	End
ENSE00001249331	81120201	81122823
ENSE00001669313	81117295	81118442
ENSE00001841228	81165938	81166221
ENSE00003491061	81134368	81134501
ENSE00003506297	81126427	81126560
ENSE00003528485	81127792	81127910
ENSE00003538060	81131061	81131205
ENSE00003541717	81124727	81124848
ENSE00003544299	81124930	81125014
ENSE00003549175	81127583	81127670
ENSE00003558802	81123194	81123343
ENSE00003617307	81119380	81119580
ENSE00003635493	81119936	81120083
ENSE00003692800	81128470	81128549

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 99.04.

FANTOM5 (CAGE): breadth broad, TPM avg 6.7870 / max 640.3354, expressed in 341 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168651	4.0552	137
168664	1.6712	259
168650	0.4244	80
168661	0.1868	100
168663	0.0942	57
168662	0.0757	34
168654	0.0697	35
208440	0.0516	36
168656	0.0457	17
168657	0.0356	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibial nerve	UBERON:0001323	99.04	gold quality
sural nerve	UBERON:0015488	99.04	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.63	gold quality
spinal cord	UBERON:0002240	98.21	gold quality
inferior vagus X ganglion	UBERON:0005363	97.80	gold quality
olfactory bulb	UBERON:0002264	97.77	gold quality
trigeminal ganglion	UBERON:0001675	97.68	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.13	gold quality
subthalamic nucleus	UBERON:0001906	97.09	gold quality
right frontal lobe	UBERON:0002810	96.57	gold quality
cerebellar hemisphere	UBERON:0002245	96.51	gold quality
cerebellar cortex	UBERON:0002129	96.43	gold quality
dorsal plus ventral thalamus	UBERON:0001897	96.35	gold quality
ventral tegmental area	UBERON:0002691	96.31	gold quality
putamen	UBERON:0001874	96.26	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.95	gold quality
amygdala	UBERON:0001876	95.94	gold quality
dorsal root ganglion	UBERON:0000044	95.81	gold quality
lateral globus pallidus	UBERON:0002476	95.70	gold quality
corpus callosum	UBERON:0002336	95.65	gold quality
hypothalamus	UBERON:0001898	95.57	gold quality
medulla oblongata	UBERON:0001896	95.55	gold quality
middle frontal gyrus	UBERON:0002702	95.53	gold quality
midbrain	UBERON:0001891	95.52	gold quality
cerebellum	UBERON:0002037	95.41	gold quality
pons	UBERON:0000988	95.40	gold quality
substantia nigra	UBERON:0002038	95.39	gold quality
superior vestibular nucleus	UBERON:0007227	95.32	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.29	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.01	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	619.41
E-ANND-3	yes	4.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting AATK, 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-574-5P	100.00	66.01	989
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-196A-3P	99.19	67.34	1204
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-7113-3P	98.75	65.71	1120
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-6882-3P	98.23	67.01	1119

Literature-anchored findings (GeneRIF, showing 5)

• Apoptosis-associated tyrosine kinase is a Cdk5 activator p35 binding protein. (PMID:14521924)
• This paper deals with the mouse ortholog. (PMID:17651901)
• ATKK was validated as a target gene of miR-558, and upregulation of miR-558 was observed in radioresistant lung cancer cells. Additionally, ectopic overexpression of ATKK partially but significantly reduced the miR-558-induced radioresistance. (PMID:27485693)
• Lemur tail kinase 1 (LMTK1) regulates the endosomal localization of beta-secretase BACE1. (PMID:34523681)
• Epigenetically silenced apoptosis-associated tyrosine kinase (AATK) facilitates a decreased expression of Cyclin D1 and WEE1, phosphorylates TP53 and reduces cell proliferation in a kinase-dependent manner. (PMID:35902728)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	aatka	ENSDARG00000078222
danio_rerio	aatkb	ENSDARG00000104442
mus_musculus	Aatk	ENSMUSG00000025375
rattus_norvegicus	Aatk	ENSRNOG00000004392

Paralogs (1): LMTK3 (ENSG00000142235)

Protein

Protein identifiers

Serine/threonine-protein kinase LMTK1 — Q6ZMQ8 (reviewed: Q6ZMQ8)

Alternative names: Apoptosis-associated tyrosine kinase, Brain apoptosis-associated tyrosine kinase, CDK5-binding protein, Lemur tyrosine kinase 1, p35-binding protein

All UniProt accessions (7): A0A3B3ISA0, A0A3B3ISC2, A0A3B3ISX0, Q6ZMQ8, H7C175, I3L360, I3L461

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in neuronal differentiation.

Subunit / interactions. Interacts with CDK5.

Subcellular location. Membrane. Cytoplasm. Perinuclear region.

Tissue specificity. Expressed in brain.

Post-translational modifications. Autophosphorylated. Phosphorylated by CDK5.

Induction. Up-regulated during apoptosis.

Similarity. Belongs to the protein kinase superfamily. Tyr protein kinase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6ZMQ8-1	1	yes
Q6ZMQ8-2	2, hAATYKs-p35BP
Q6ZMQ8-3	3

RefSeq proteins (2): NP_001073864, NP_004911 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR008266	Tyr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR017441	Protein_kinase_ATP_BS	Binding_site
IPR042817	LMTK1_c	Domain

Pfam: PF07714

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
• L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)

UniProt features (59 total): compositionally biased region 16, sequence variant 11, sequence conflict 10, modified residue 7, region of interest 5, splice variant 4, binding site 2, chain 1, transmembrane region 1, domain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZMQ8-F1	48.54	0.15

Functional residue map

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

Catalytic / active sites (1): 253 (proton acceptor)

Ligand- & substrate-binding residues (2): 131–139; 156

Post-translational modifications (7): 495, 1029, 1168, 1171, 1184, 1187, 1262

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 125 (showing top): MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_NEURON_APOPTOTIC_PROCESS, GOBP_HEAD_DEVELOPMENT, KIM_GASTRIC_CANCER_CHEMOSENSITIVITY, RUAN_RESPONSE_TO_TNF_DN, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, LEIN_OLIGODENDROCYTE_MARKERS, GOMF_PROTEIN_KINASE_ACTIVITY, GOMF_KINASE_ACTIVITY, GOMF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, MEISSNER_NPC_HCP_WITH_H3K4ME2, HOFFMANN_LARGE_TO_SMALL_PRE_BII_LYMPHOCYTE_DN

GO Biological Process (3): brain development (GO:0007420), neuron apoptotic process (GO:0051402), protein phosphorylation (GO:0006468)

GO Molecular Function (10): protein serine/threonine kinase activity (GO:0004674), protein tyrosine kinase activity (GO:0004713), ATP binding (GO:0005524), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (4): endomembrane system (GO:0012505), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
protein kinase activity	3
central nervous system development	1
animal organ development	1
head development	1
apoptotic process	1
phosphorylation	1
protein modification process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
cation binding	1
vacuole	1
plasma membrane	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1048 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AATK	CDK5	Q00535	669
AATK	CDK5R1	Q15078	567
AATK	CSF3	P09919	530
AATK	IL3	P08700	502
AATK	PVALEF	A0A1B0GWK0	451
AATK	HTT	P42858	438
AATK	TBC1D9B	Q66K14	432
AATK	FMR1	Q06787	413
AATK	MYADM	Q96S97	409
AATK	AARSD1	Q9BTE6	360
AATK	TP53I3	Q53FA7	353
AATK	RAB11A	P24410	327
AATK	SBK3	P0C264	325
AATK	DENND4A	Q7Z401	321
AATK	BAIAP2	Q9UQB8	309

IntAct

49 interactions, top by confidence:

A	B	Type	Score
CDK5R1	CDK5	psi-mi:“MI:0217”(phosphorylation reaction)	0.940
PPP1CA	AATK	psi-mi:“MI:0915”(physical association)	0.670
AATK	PPP1CA	psi-mi:“MI:0915”(physical association)	0.670
PPP1CC	AATK	psi-mi:“MI:0915”(physical association)	0.660
AATK	TEPSIN	psi-mi:“MI:0915”(physical association)	0.560
PPP1CB	AATK	psi-mi:“MI:0915”(physical association)	0.550
TAB1	AATK	psi-mi:“MI:0915”(physical association)	0.520
AATK	NDUFA4	psi-mi:“MI:0914”(association)	0.420
AATK	BDKRB2	psi-mi:“MI:0915”(physical association)	0.370
PPP3CA	AATK	psi-mi:“MI:0915”(physical association)	0.370
PPP3CB	AATK	psi-mi:“MI:0915”(physical association)	0.370
PPM1A	AATK	psi-mi:“MI:0915”(physical association)	0.370
PPM1B	AATK	psi-mi:“MI:0915”(physical association)	0.370
PPM1F	AATK	psi-mi:“MI:0915”(physical association)	0.370
PPM1K	AATK	psi-mi:“MI:0915”(physical association)	0.370
PPM1M	AATK	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	AATK	psi-mi:“MI:0915”(physical association)	0.370
PTPRR	AATK	psi-mi:“MI:0915”(physical association)	0.370
PTPN6	AATK	psi-mi:“MI:0915”(physical association)	0.370
PTPN7	AATK	psi-mi:“MI:0915”(physical association)	0.370
PTPN11	AATK	psi-mi:“MI:0915”(physical association)	0.370
PTPN12	AATK	psi-mi:“MI:0915”(physical association)	0.370
PTPN18	AATK	psi-mi:“MI:0915”(physical association)	0.370
DUSP1	AATK	psi-mi:“MI:0915”(physical association)	0.370
DUSP5	AATK	psi-mi:“MI:0915”(physical association)	0.370
DUSP6	AATK	psi-mi:“MI:0915”(physical association)	0.370
DUSP9	AATK	psi-mi:“MI:0915”(physical association)	0.370
DUSP14	AATK	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (213): ACTC1 (Affinity Capture-MS), ATAD3A (Affinity Capture-MS), DNAJA1 (Affinity Capture-MS), DNAJA3 (Affinity Capture-MS), DPM1 (Affinity Capture-MS), HSPB1 (Affinity Capture-MS), P4HA1 (Affinity Capture-MS), PPP1CA (Affinity Capture-MS), PPP1CC (Affinity Capture-MS), RCN1 (Affinity Capture-MS), SLC25A1 (Affinity Capture-MS), SLC25A11 (Affinity Capture-MS), SLC25A12 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS), SLC25A22 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RQ45, A0A0U1RQS6, A0A2R8YCJ5, A2A699, A2AEV7, A6NGB7, A6NJG2, A6NKF7, A6NKL6, A6NL88, A8MVW0, A9JSM3, B2RU40, B8ZZ34, C9JH25, D4A9R4, J3QNX5, P0CG09, P98077, Q0VD38, Q14761, Q17QH7, Q29RK8, Q2KJ18, Q2M3V2, Q3SX20, Q5BJT1, Q5HZJ5, Q5RKR3, Q5T442, Q64697, Q69YZ2, Q6PB97, Q6PCT2, Q6UXK2, Q6ZMQ8, Q6ZVH7, Q6ZW31, Q80XF7, Q8BLS7

Diamond homologs: A0JNB0, A1Y2K1, F8W3R9, O02466, O13147, O42422, O45539, O73798, O73878, O76997, P00523, P00529, P00530, P00541, P04629, P06213, P08069, P08922, P08941, P09208, P09759, P09769, P12931, P13368, P14085, P14616, P14617, P15054, P15127, P15208, P15209, P24062, P24604, P27446, P28693, P33497, P35739, P39688, P41239, P42159

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
AATK	up-regulates	CDK5R1	binding
AATK	down-regulates	STK39

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 47 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
Interleukin-37 signaling	5	70.2×	2e-06
PI Metabolism	5	48.2×	7e-06
Negative regulation of MAPK pathway	5	35.9×	2e-05
Phospholipid metabolism	5	27.1×	4e-05

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine dephosphorylation	5	103.1×	2e-07
protein dephosphorylation	19	98.0×	8e-32
negative regulation of MAPK cascade	5	35.0×	3e-05
negative regulation of ERK1 and ERK2 cascade	5	25.1×	9e-05
MAPK cascade	7	24.9×	2e-06
cell division	6	6.4×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	284
Likely benign	31
Benign	1

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	Pathogenic
58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	Pathogenic
687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	Pathogenic
2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	Likely pathogenic
564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	Likely pathogenic

SpliceAI

3558 predictions. Top by Δscore:

Variant	Effect	Δscore
17:81110956:GTTA:G	donor_gain	1.0000
17:81110960:G:GG	donor_gain	1.0000
17:81119374:CCTCA:C	donor_loss	1.0000
17:81119375:CTCAC:C	donor_loss	1.0000
17:81119376:TCAC:T	donor_loss	1.0000
17:81119377:CACCT:C	donor_loss	1.0000
17:81119379:CCT:C	donor_gain	1.0000
17:81119379:CCTCT:C	donor_gain	1.0000
17:81119577:CCAC:C	acceptor_gain	1.0000
17:81119578:CACC:C	acceptor_gain	1.0000
17:81123344:CTGT:C	acceptor_loss	1.0000
17:81124724:CAC:C	donor_loss	1.0000
17:81124725:A:AC	donor_gain	1.0000
17:81124726:C:CC	donor_gain	1.0000
17:81124726:C:T	donor_loss	1.0000
17:81124726:CCA:C	donor_gain	1.0000
17:81124726:CCACA:C	donor_gain	1.0000
17:81124844:TCCTC:T	acceptor_gain	1.0000
17:81124845:CCTCC:C	acceptor_gain	1.0000
17:81124846:CTC:C	acceptor_gain	1.0000
17:81124847:TC:T	acceptor_gain	1.0000
17:81124847:TCC:T	acceptor_loss	1.0000
17:81124848:CC:C	acceptor_gain	1.0000
17:81124849:C:CA	acceptor_loss	1.0000
17:81124849:C:CC	acceptor_gain	1.0000
17:81124852:T:TC	acceptor_gain	1.0000
17:81124928:A:AC	donor_gain	1.0000
17:81124929:C:CC	donor_gain	1.0000
17:81124929:CT:C	donor_gain	1.0000
17:81124935:A:AC	donor_gain	1.0000

AlphaMissense

8826 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:81120217:A:T	V1240D	0.999
17:81124803:A:G	W296R	0.999
17:81124803:A:T	W296R	0.999
17:81122802:G:C	C378W	0.998
17:81122804:A:G	C378R	0.998
17:81123195:A:G	W371R	0.998
17:81123195:A:T	W371R	0.998
17:81120207:A:C	F1243L	0.997
17:81120207:A:T	F1243L	0.997
17:81120209:A:G	F1243L	0.997
17:81120234:G:C	F1234L	0.997
17:81120234:G:T	F1234L	0.997
17:81120236:A:G	F1234L	0.997
17:81122341:A:T	I532N	0.997
17:81122801:A:G	W379R	0.997
17:81122801:A:T	W379R	0.997
17:81123317:A:G	L330P	0.997
17:81123335:C:T	G324D	0.997
17:81123336:C:G	G324R	0.997
17:81120208:A:G	F1243S	0.996
17:81120211:A:G	L1242P	0.996
17:81122341:A:G	I532T	0.996
17:81122506:A:G	F477S	0.996
17:81122803:C:T	C378Y	0.996
17:81124728:A:G	W321R	0.996
17:81124728:A:T	W321R	0.996
17:81127816:A:G	F170S	0.996
17:81120235:A:G	F1234S	0.995
17:81122752:A:G	L395P	0.995
17:81122755:A:G	L394P	0.995

dbSNP variants (sampled 300 via entrez): RS1000075806 (17:81167786 G>A), RS1000099430 (17:81159413 C>T), RS1000140085 (17:81126020 G>A), RS1000153542 (17:81157282 A>G), RS1000206511 (17:81133971 C>A,T), RS1000209137 (17:81125138 C>T), RS1000237414 (17:81152013 G>A,C), RS1000237787 (17:81133711 G>A), RS1000291254 (17:81154315 C>T), RS1000303464 (17:81150721 G>A), RS1000362490 (17:81154737 C>A,T), RS1000449700 (17:81125854 C>G,T), RS1000502140 (17:81149056 G>A), RS1000527206 (17:81157319 C>T), RS1000566030 (17:81151533 C>A,G,T)

Disease associations

OMIM: gene MIM:605276 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST001762_78	Obesity-related traits	9.000000e-06
GCST004751_1	Serum uric acid levels in response to allopurinol in gout	1.000000e-08
GCST005232_156	Neuroticism	2.000000e-14
GCST010141_7	Beef consumption	4.000000e-08
GCST011536_6	Intestinal permeability measurement	3.000000e-06
GCST90000025_621	Appendicular lean mass	3.000000e-29
GCST90000026_44	Appendicular lean mass	5.000000e-13
GCST90000027_49	Appendicular lean mass	4.000000e-18
GCST90000047_224	Age at first sexual intercourse	6.000000e-10
GCST90002389_245	Lymphocyte percentage of white cells	4.000000e-09
GCST90002398_314	Neutrophil count	2.000000e-09
GCST90002399_254	Neutrophil percentage of white cells	1.000000e-10

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0005189	respiratory quotient
EFO:0004761	uric acid measurement
EFO:0007660	neuroticism measurement
EFO:0008111	diet measurement
EFO:0011031	intestinal permeability measurement
EFO:0004980	appendicular lean mass
EFO:0009749	age at first sexual intercourse measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — Type XVIII RTKs: LMR family

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	4
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
ethyl-p-hydroxybenzoate	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	affects expression	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
2,6-dichloro-(1,4)benzoquinone	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	affects expression, increases abundance	1
Caffeine	increases phosphorylation	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Menthol	decreases expression	1
Nicotine	increases expression	1
Ozone	increases abundance, affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	affects expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SA86	HAP1 AATK (-) 1	Cancer cell line	Male
CVCL_SA87	HAP1 AATK (-) 2	Cancer cell line	Male
CVCL_SA88	HAP1 AATK (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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