AP1M2

Summary

AP1M2 (adaptor related protein complex 1 subunit mu 2, HGNC:558) is a protein-coding gene on chromosome 19p13.2, encoding AP-1 complex subunit mu-2 (Q9Y6Q5). Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes.

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 10053 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 98 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_005498

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:558
Approved symbol	AP1M2
Name	adaptor related protein complex 1 subunit mu 2
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	HSMU1B, mu2, AP1-mu2
Ensembl gene	ENSG00000129354
Ensembl biotype	protein_coding
OMIM	607309
Entrez	10053

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 21 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000250244, ENST00000587069, ENST00000589348, ENST00000589571, ENST00000589684, ENST00000589809, ENST00000590923, ENST00000591240, ENST00000591676, ENST00000592285, ENST00000903393, ENST00000918520, ENST00000918521, ENST00000918522, ENST00000918523, ENST00000918524, ENST00000918525, ENST00000918526, ENST00000918527, ENST00000918528, ENST00000918529, ENST00000918530, ENST00000918531

RefSeq mRNA: 2 — MANE Select: NM_005498 NM_001300887, NM_005498

CCDS: CCDS45964, CCDS77234

Canonical transcript exons

ENST00000250244 — 12 exons

Exon	Start	End
ENSE00000678080	10581487	10581634
ENSE00000678145	10581266	10581392
ENSE00000678234	10579716	10579858
ENSE00000678362	10577198	10577356
ENSE00000678429	10574904	10575029
ENSE00001647612	10581748	10581878
ENSE00001724477	10578892	10578963
ENSE00001781317	10574417	10574492
ENSE00002744955	10587190	10587312
ENSE00002812885	10572671	10573088
ENSE00003615672	10583914	10584070
ENSE00003618571	10583606	10583673

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 97.89.

FANTOM5 (CAGE): breadth broad, TPM avg 15.3643 / max 170.1869, expressed in 658 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179166	13.9184	450
179163	0.7017	183
179165	0.4360	131
179162	0.1693	83
179164	0.0699	34
179161	0.0364	10
179160	0.0327	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	97.89	gold quality
lower esophagus mucosa	UBERON:0035834	96.00	gold quality
rectum	UBERON:0001052	95.76	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.81	gold quality
right lobe of thyroid gland	UBERON:0001119	94.77	gold quality
oocyte	CL:0000023	94.41	gold quality
right uterine tube	UBERON:0001302	94.37	gold quality
metanephros cortex	UBERON:0010533	94.37	gold quality
left lobe of thyroid gland	UBERON:0001120	94.34	gold quality
islet of Langerhans	UBERON:0000006	94.15	gold quality
body of pancreas	UBERON:0001150	93.56	gold quality
thyroid gland	UBERON:0002046	93.17	gold quality
esophagus mucosa	UBERON:0002469	92.80	gold quality
adult mammalian kidney	UBERON:0000082	92.63	gold quality
ileal mucosa	UBERON:0000331	91.68	gold quality
pancreas	UBERON:0001264	91.61	gold quality
minor salivary gland	UBERON:0001830	91.12	gold quality
skin of abdomen	UBERON:0001416	90.83	gold quality
skin of leg	UBERON:0001511	89.95	gold quality
saliva-secreting gland	UBERON:0001044	89.86	gold quality
mouth mucosa	UBERON:0003729	89.24	gold quality
pituitary gland	UBERON:0000007	89.18	gold quality
gall bladder	UBERON:0002110	89.11	gold quality
adenohypophysis	UBERON:0002196	89.09	gold quality
secondary oocyte	CL:0000655	88.88	gold quality
zone of skin	UBERON:0000014	87.30	gold quality
duodenum	UBERON:0002114	87.15	gold quality
colonic mucosa	UBERON:0000317	87.05	gold quality
palpebral conjunctiva	UBERON:0001812	86.60	gold quality
transverse colon	UBERON:0001157	86.53	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	45.68
E-HCAD-10	yes	20.77
E-ANND-3	yes	15.91
E-MTAB-9388	yes	12.06
E-MTAB-8271	yes	6.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting AP1M2, 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-6798-5P	100.00	65.77	699
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-138-2-3P	98.91	68.33	1643
HSA-MIR-9500	98.62	66.54	1845
HSA-MIR-4290	98.51	65.17	907
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-4736	97.96	65.89	1287
HSA-MIR-4741	97.69	64.14	883
HSA-MIR-6849-3P	97.25	64.57	1371
HSA-MIR-6784-5P	84.56	60.91	126

Literature-anchored findings (GeneRIF, showing 6)

• Results suggest that mu1B interacts with different classes of basolateral targeting signals in distinct ways. (PMID:12134076)
• The AP1M2 gene was shown to effectively separate these two tumor(chromophobe renal cell carcinoma (RCC) and benign oncocytoma) groups by quantitative reverse transcription-PCR using fresh tissue samples, with similar trends seen on formalin-fixed tissues. (PMID:17145811)
• PIPKIgamma also interacts with the mu subunits of clathrin adaptor protein (AP) complexes (PMID:17261850)
• The mechanism of iron absorption from mineralized Soybean ferritin using Caco-2 cells via a mu2-dependent endocytosis mechanism is reported. (PMID:18356317)
• Variants in AP1M2 gene is associated with thrombosis. (PMID:26908601)
• The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy? (PMID:32759789)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ap1m2	ENSDARG00000096454
danio_rerio		ENSDARG00000113932
mus_musculus	Ap1m2	ENSMUSG00000003309
rattus_norvegicus	Ap1m2	ENSRNOG00000043093

Paralogs (7): AP3M2 (ENSG00000070718), AP1M1 (ENSG00000072958), STON2 (ENSG00000140022), AP2M1 (ENSG00000161203), AP3M1 (ENSG00000185009), AP4M1 (ENSG00000221838), STON1 (ENSG00000243244)

Protein

Protein identifiers

AP-1 complex subunit mu-2 — Q9Y6Q5 (reviewed: Q9Y6Q5)

Alternative names: AP-mu chain family member mu1B, Adaptor protein complex AP-1 subunit mu-2, Adaptor-related protein complex 1 subunit mu-2, Clathrin assembly protein complex 1 mu-2 medium chain 2, Golgi adaptor HA1/AP1 adaptin mu-2 subunit, Mu-adaptin 2, Mu1B-adaptin

All UniProt accessions (8): Q9Y6Q5, K7EJJ1, K7EK69, K7EL08, K7EMG5, K7EPI9, K7EPR4, K7ERH5

UniProt curated annotations — full annotation on UniProt →

Function. Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.

Subunit / interactions. Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3). Interacts with P2X4.

Subcellular location. Golgi apparatus. Cytoplasmic vesicle. Clathrin-coated vesicle membrane.

Post-translational modifications. Phosphorylation of membrane-bound AP1M1/AP1M2 increases its affinity for sorting signals.

Similarity. Belongs to the adaptor complexes medium subunit family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y6Q5-1	1	yes
Q9Y6Q5-2	2

RefSeq proteins (2): NP_001287816, NP_005489* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001392	Clathrin_mu	Family
IPR011012	Longin-like_dom_sf	Homologous_superfamily
IPR018240	Clathrin_mu_CS	Conserved_site
IPR022775	AP_mu_sigma_su	Domain
IPR028565	MHD	Domain
IPR036168	AP2_Mu_C_sf	Homologous_superfamily
IPR050431	Adaptor_comp_med_subunit	Family

Pfam: PF00928, PF01217

UniProt features (4 total): 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-Q9Y6Q5-F1	93.03	0.85

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-164940	Nef mediated downregulation of MHC class I complex cell surface expression
R-HSA-2132295	MHC class II antigen presentation
R-HSA-432720	Lysosome Vesicle Biogenesis
R-HSA-432722	Golgi Associated Vesicle Biogenesis
R-HSA-1280218	Adaptive Immune System
R-HSA-162906	HIV Infection
R-HSA-162909	Host Interactions of HIV factors
R-HSA-1643685	Disease
R-HSA-164938	Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
R-HSA-164952	The role of Nef in HIV-1 replication and disease pathogenesis
R-HSA-168256	Immune System
R-HSA-199991	Membrane Trafficking
R-HSA-199992	trans-Golgi Network Vesicle Budding
R-HSA-5653656	Vesicle-mediated transport
R-HSA-5663205	Infectious disease
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 178 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, GOBP_VESICLE_LOCALIZATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_PROTEIN_TARGETING, GOBP_VESICLE_TARGETING, GOBP_VACUOLAR_TRANSPORT, KEGG_LYSOSOME, REACTOME_THE_ROLE_OF_NEF_IN_HIV_1_REPLICATION_AND_DISEASE_PATHOGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, SENESE_HDAC1_AND_HDAC2_TARGETS_DN

GO Biological Process (8): protein targeting (GO:0006605), intracellular protein transport (GO:0006886), obsolete vesicle targeting (GO:0006903), vesicle-mediated transport (GO:0016192), basolateral protein secretion (GO:0110010), protein transport (GO:0015031), establishment of protein localization (GO:0045184), establishment of localization in cell (GO:0051649)

GO Molecular Function (2): clathrin-cargo adaptor activity (GO:0035615), protein binding (GO:0005515)

GO Cellular Component (15): Golgi membrane (GO:0000139), lysosomal membrane (GO:0005765), cytosol (GO:0005829), AP-1 adaptor complex (GO:0030121), clathrin-coated vesicle (GO:0030136), cytoplasmic vesicle membrane (GO:0030659), trans-Golgi network membrane (GO:0032588), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), clathrin-coated pit (GO:0005905), endomembrane system (GO:0012505), membrane (GO:0016020), clathrin adaptor complex (GO:0030131), clathrin-coated vesicle membrane (GO:0030665), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
trans-Golgi Network Vesicle Budding	2
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	1
Adaptive Immune System	1
Immune System	1
Viral Infection Pathways	1
HIV Infection	1
The role of Nef in HIV-1 replication and disease pathogenesis	1
Host Interactions of HIV factors	1
Vesicle-mediated transport	1
Membrane Trafficking	1
Disease	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	3
establishment of protein localization	2
intracellular protein localization	2
transport	2
establishment of localization	2
endomembrane system	2
protein transport	1
intracellular transport	1
cellular process	1
protein secretion	1
cellular localization	1
clathrin binding	1
cargo adaptor activity	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
lysosome	1
lytic vacuole membrane	1
clathrin coat of trans-Golgi network vesicle	1
clathrin adaptor complex	1
coated vesicle	1
vesicle membrane	1
cytoplasmic vesicle	1
trans-Golgi network	1
organelle membrane	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1
membrane	1
vacuole	1
plasma membrane	1
clathrin coat	1
AP-type membrane coat adaptor complex	1
clathrin-coated vesicle	1
coated vesicle membrane	1
intracellular vesicle	1

Protein interactions and networks

STRING

1440 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AP1M2	AP1S1	P61966	845
AP1M2	AP1S2	P56377	778
AP1M2	TGOLN2	O43493	655
AP1M2	AP1G2	O75843	604
AP1M2	AP1G1	O43747	544
AP1M2	AP3S1	Q92572	492
AP1M2	AP1B1	P78436	488
AP1M2	AP3S2	P59780	484
AP1M2	CLDN7	O95471	482
AP1M2	GSTM1	P09488	480
AP1M2	CNNM4	Q6P4Q7	480
AP1M2	AJAP1	Q9UKB5	478
AP1M2	AP1S3	Q96PC3	471
AP1M2	PIP5K1C	O60331	444
AP1M2	RAB11A	P24410	430

IntAct

35 interactions, top by confidence:

A	B	Type	Score
AP2B1	AP1M2	psi-mi:“MI:0915”(physical association)	0.740
AP1M2	AP2B1	psi-mi:“MI:0915”(physical association)	0.740
ERBB3	PIK3R2	psi-mi:“MI:0914”(association)	0.700
AP1S2	AP1G1	psi-mi:“MI:0914”(association)	0.660
PDGFRB	PIK3R2	psi-mi:“MI:0914”(association)	0.610
PTGES3	AIP	psi-mi:“MI:0914”(association)	0.530
TGOLN2	DENND11	psi-mi:“MI:0914”(association)	0.530
AP1M2	E7	psi-mi:“MI:0915”(physical association)	0.370
APP	AP1M2	psi-mi:“MI:0915”(physical association)	0.370
ECSIT	AP1M2	psi-mi:“MI:0915”(physical association)	0.370
AP1M2	MAST1	psi-mi:“MI:0915”(physical association)	0.370
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ERBB2	PGM3	psi-mi:“MI:0914”(association)	0.350
AP1M2	AP1G1	psi-mi:“MI:0914”(association)	0.350
HLA-C	TMEM131L	psi-mi:“MI:0914”(association)	0.350
OPALIN	FAM171A2	psi-mi:“MI:0914”(association)	0.350
LRRC25	SCAMP3	psi-mi:“MI:0914”(association)	0.350
AP1S3	AP1G1	psi-mi:“MI:0914”(association)	0.350
AP2B1	AP1G1	psi-mi:“MI:0914”(association)	0.350
SPACA1	MPZL2	psi-mi:“MI:0914”(association)	0.350
MGRN1	NMT2	psi-mi:“MI:0914”(association)	0.350
GPR107	SPINT1	psi-mi:“MI:0914”(association)	0.350
KIAA1191	UBA6	psi-mi:“MI:0914”(association)	0.350

BioGRID (106): AP1M2 (Two-hybrid), AP1S2 (Affinity Capture-MS), AP1S1 (Affinity Capture-MS), AP1S3 (Affinity Capture-MS), AP1G2 (Affinity Capture-MS), AP1B1 (Affinity Capture-MS), AP2B1 (Affinity Capture-MS), TMF1 (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), AP1G1 (Affinity Capture-MS), HECTD1 (Affinity Capture-MS), RIPK1 (Affinity Capture-MS), NECAP1 (Affinity Capture-MS), AP1M2 (Two-hybrid), AP1B1 (Co-fractionation)

ESM2 similar proteins: A0A1S4A695, A0CDD4, A2VE01, A8IU92, B0R0D7, D3ZRP6, O88958, O97556, P46926, P48454, P50397, P50399, P62495, P62496, P62497, P62498, Q0VCX5, Q1W377, Q24208, Q259G4, Q3SYW1, Q499T7, Q4R7R3, Q503E1, Q5PQL4, Q5R4C7, Q5R8T8, Q5U2Q7, Q5ZHP3, Q5ZJL4, Q61598, Q64422, Q6B857, Q6GL74, Q6GPY6, Q6PBJ2, Q6Q7J2, Q7XPW5, Q8BTU1, Q8BWY3

Diamond homologs: D3ZRP6, O22715, O23140, P35585, P35602, P35603, P54672, P84091, P84092, Q00776, Q09718, Q24212, Q2KJ81, Q32Q06, Q3SYW1, Q3ZC13, Q4R706, Q54HS9, Q5NVF7, Q5ZMP6, Q5ZMP7, Q6NWK2, Q6P856, Q7ZW98, Q801Q8, Q96CW1, Q9BXS5, Q9GPF1, Q9HFE5, Q9SAC9, Q9SB50, Q9WVP1, Q9Y6Q5, Q99186, Q750L8, Q8CDJ8, F4I562, Q3ZBB6, E2RED8, Q29RY8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 42 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
trans-Golgi Network Vesicle Budding	5	50.8×	5e-06
Membrane Trafficking	6	8.9×	1e-03
Vesicle-mediated transport	6	8.4×	1e-03
Infectious disease	6	6.0×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	71
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	Pathogenic
153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	Likely pathogenic

SpliceAI

1654 predictions. Top by Δscore:

Variant	Effect	Δscore
19:10574411:CCTTA:C	donor_loss	1.0000
19:10574412:CTTAC:C	donor_loss	1.0000
19:10574414:TA:T	donor_loss	1.0000
19:10574415:A:AC	donor_gain	1.0000
19:10574415:A:T	donor_loss	1.0000
19:10574415:ACCG:A	donor_gain	1.0000
19:10574416:C:CA	donor_loss	1.0000
19:10574416:C:CC	donor_gain	1.0000
19:10574416:CCG:C	donor_gain	1.0000
19:10574416:CCGC:C	donor_gain	1.0000
19:10574488:CGGAC:C	acceptor_gain	1.0000
19:10574489:GGAC:G	acceptor_gain	1.0000
19:10574491:AC:A	acceptor_gain	1.0000
19:10574491:ACC:A	acceptor_loss	1.0000
19:10574492:CC:C	acceptor_gain	1.0000
19:10574493:C:CC	acceptor_gain	1.0000
19:10574984:CA:C	acceptor_gain	1.0000
19:10574986:C:CC	acceptor_gain	1.0000
19:10575025:CCCCC:C	acceptor_gain	1.0000
19:10575026:CCCC:C	acceptor_gain	1.0000
19:10575026:CCCCC:C	acceptor_gain	1.0000
19:10575027:CCCC:C	acceptor_gain	1.0000
19:10575028:CC:C	acceptor_gain	1.0000
19:10575029:CC:C	acceptor_gain	1.0000
19:10575029:CCTG:C	acceptor_loss	1.0000
19:10575030:C:CC	acceptor_gain	1.0000
19:10575030:C:T	acceptor_gain	1.0000
19:10575030:CTG:C	acceptor_loss	1.0000
19:10577194:TTA:T	donor_loss	1.0000
19:10577195:TACC:T	donor_loss	1.0000

AlphaMissense

2794 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:10574437:C:G	R410P	1.000
19:10574438:G:T	R410S	1.000
19:10574440:A:T	V409D	1.000
19:10574442:C:A	W408C	1.000
19:10574442:C:G	W408C	1.000
19:10574444:A:G	W408R	1.000
19:10574444:A:T	W408R	1.000
19:10574914:G:A	S388F	1.000
19:10577218:A:G	W343R	1.000
19:10577218:A:T	W343R	1.000
19:10577325:G:T	A307D	1.000
19:10579741:A:G	L264P	1.000
19:10579741:A:T	L264H	1.000
19:10579774:A:C	I253S	1.000
19:10579774:A:T	I253N	1.000
19:10579809:G:C	C241W	1.000
19:10579811:A:G	C241R	1.000
19:10581301:C:T	G213D	1.000
19:10581304:A:G	L212P	1.000
19:10581310:A:G	L210P	1.000
19:10581316:G:T	P208Q	1.000
19:10581352:C:T	G196D	1.000
19:10581353:C:G	G196R	1.000
19:10581509:A:T	V175D	1.000
19:10581517:G:C	F172L	1.000
19:10581517:G:T	F172L	1.000
19:10581519:A:G	F172L	1.000
19:10581555:G:T	R160S	1.000
19:10581556:C:A	W159C	1.000
19:10581556:C:G	W159C	1.000

dbSNP variants (sampled 300 via entrez): RS1000058904 (19:10588020 C>A), RS1000243575 (19:10580925 A>G), RS1000399459 (19:10582844 G>T), RS1000494719 (19:10583373 C>T), RS1000515106 (19:10588421 C>A,G,T), RS1001052879 (19:10577597 C>A), RS1001060876 (19:10586777 G>A), RS1001166385 (19:10586002 G>A), RS1001168854 (19:10572633 C>T), RS1001510045 (19:10575118 C>T), RS1002165191 (19:10584572 C>G), RS1002434310 (19:10572357 G>C), RS1002514696 (19:10574018 G>A,C), RS1002518814 (19:10585923 A>G), RS1002571056 (19:10586139 C>A,T)

Disease associations

OMIM: gene MIM:607309 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST004603_191	Platelet count	1.000000e-12
GCST004607_14	Plateletcrit	2.000000e-17
GCST004621_206	Red cell distribution width	3.000000e-15
GCST004632_18	Lymphocyte percentage of white cells	8.000000e-09
GCST006804_67	Red cell distribution width	5.000000e-12
GCST008103_119	Bipolar disorder	5.000000e-06
GCST90002396_18	Mean reticulocyte volume	6.000000e-12
GCST90002397_183	Mean spheric corpuscular volume	9.000000e-14
GCST90002400_267	Plateletcrit	4.000000e-15
GCST90002404_560	Red cell distribution width	3.000000e-25

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0007985	platelet crit
EFO:0009188	Red cell distribution width
EFO:0007993	lymphocyte percentage of leukocytes
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	5
sodium arsenite	decreases expression, increases expression	3
entinostat	affects cotreatment, increases expression	2
bisphenol S	decreases methylation, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases expression	1
trichostatin A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
potassium chromate(VI)	increases expression	1
cupric chloride	decreases expression	1
yessotoxin	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
corosolic acid	decreases expression	1
K 7174	decreases 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	increases expression, affects cotreatment	1
jinfukang	affects cotreatment, decreases expression	1
PP242	decreases expression	1
bisphenol AF	increases expression	1
Decitabine	decreases expression, decreases reaction	1
Acetaminophen	decreases expression	1
Atrazine	increases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Cadmium	increases abundance, decreases expression	1
Calcitriol	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1JP	Abcam HeLa AP1M2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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