ANP32E

Summary

ANP32E (acidic nuclear phosphoprotein 32 family member E, HGNC:16673) is a protein-coding gene on chromosome 1q21.2, encoding Acidic leucine-rich nuclear phosphoprotein 32 family member E (Q9BTT0). Histone chaperone that specifically mediates the genome-wide removal of histone H2A.Z/H2AZ1 from the nucleosome: removes H2A.Z/H2AZ1 from its normal sites of deposition, especially from enhancer and insulator regions.

Enables histone binding activity; histone chaperone activity; and protein folding chaperone. Predicted to be involved in regulation of apoptotic process. Located in nucleus. Part of Swr1 complex.

Source: NCBI Gene 81611 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 37 total
• MANE Select transcript: NM_030920

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16673
Approved symbol	ANP32E
Name	acidic nuclear phosphoprotein 32 family member E
Location	1q21.2
Locus type	gene with protein product
Status	Approved
Aliases	LANPL, MGC5350, LANP-L
Ensembl gene	ENSG00000143401
Ensembl biotype	protein_coding
OMIM	609611
Entrez	81611

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 17 protein_coding

ENST00000369114, ENST00000369115, ENST00000436748, ENST00000532744, ENST00000533654, ENST00000534220, ENST00000534437, ENST00000583931, ENST00000616917, ENST00000629042, ENST00000854337, ENST00000854338, ENST00000854339, ENST00000933650, ENST00000933651, ENST00000933652, ENST00000953648

RefSeq mRNA: 5 — MANE Select: NM_030920 NM_001136478, NM_001136479, NM_001280559, NM_001280560, NM_030920

CCDS: CCDS44214, CCDS44215, CCDS60245, CCDS946

Canonical transcript exons

ENST00000583931 — 7 exons

Exon	Start	End
ENSE00002710947	150231777	150231926
ENSE00002726209	150218417	150220761
ENSE00003713212	150223186	150223240
ENSE00003732622	150230571	150230693
ENSE00003784529	150229072	150229237
ENSE00003790881	150226608	150226795
ENSE00003845854	150235733	150236112

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.0908 / max 2570.5363, expressed in 1812 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14301	29.9651	1783
14300	9.4870	1588
14298	5.7090	1384
14297	3.9022	1169
14299	3.8545	1221
14303	2.4784	983
14302	1.9384	876
14296	1.2814	653
14295	0.4748	258

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	99.05	gold quality
caput epididymis	UBERON:0004358	98.70	gold quality
corpus epididymis	UBERON:0004359	98.47	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	98.43	gold quality
ventricular zone	UBERON:0003053	98.42	gold quality
epithelium of nasopharynx	UBERON:0001951	98.28	gold quality
pigmented layer of retina	UBERON:0001782	98.25	gold quality
cauda epididymis	UBERON:0004360	98.22	gold quality
choroid plexus epithelium	UBERON:0003911	98.15	gold quality
gingival epithelium	UBERON:0001949	97.82	gold quality
cranial nerve II	UBERON:0000941	97.80	gold quality
germinal epithelium of ovary	UBERON:0001304	97.68	gold quality
ganglionic eminence	UBERON:0004023	97.66	gold quality
embryo	UBERON:0000922	97.56	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.51	gold quality
superficial temporal artery	UBERON:0001614	97.50	gold quality
sural nerve	UBERON:0015488	97.38	gold quality
bone marrow	UBERON:0002371	97.18	gold quality
seminal vesicle	UBERON:0000998	97.14	gold quality
inferior olivary complex	UBERON:0002127	97.05	gold quality
gingiva	UBERON:0001828	97.04	gold quality
medulla oblongata	UBERON:0001896	97.04	gold quality
blood vessel layer	UBERON:0004797	96.97	gold quality
pons	UBERON:0000988	96.82	gold quality
bone marrow cell	CL:0002092	96.81	gold quality
superior vestibular nucleus	UBERON:0007227	96.74	gold quality
CA1 field of hippocampus	UBERON:0003881	96.68	gold quality
visceral pleura	UBERON:0002401	96.59	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.55	gold quality
ventral tegmental area	UBERON:0002691	96.48	gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-MTAB-7051	yes	2918.00
E-MTAB-7052	yes	597.60
E-HCAD-10	yes	36.46
E-CURD-122	yes	23.13
E-HCAD-5	yes	21.19
E-HCAD-1	yes	21.08
E-HCAD-13	yes	20.37
E-GEOD-125970	yes	17.46
E-GEOD-93593	yes	15.14
E-MTAB-10042	yes	9.57
E-MTAB-10553	yes	7.63
E-GEOD-75140	no	4340.95
E-ENAD-17	no	707.28
E-CURD-89	no	689.96
E-MTAB-3929	no	512.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

129 targeting ANP32E, 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-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AQ-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 14)

• The gene was cloned and identified during large-scale sequencing analysis of a human fetal brain cDNA library. (PMID:12438741)
• 1.48 A resolution crystal structure of the complex formed between the ANP32E-ZID and the H2A.Z/H2B dimer and biochemical data support an underlying molecular mechanism for H2A.Z/H2B eviction from the nucleosome and its stabilization by ANP32E (PMID:24463511)
• Anp32e may help to resolve the non-nucleosomal H2A.Z aggregates and also facilitate the removal of H2A.Z at the +1 nucleosomes, and the latter may help RNA polymerase II to pass the first nucleosomal barrier. (PMID:24613878)
• Dynamic modulation of H2A.Z exchange and removal by Anp32e reveals the importance of the nucleosome surface and nucleosome dynamics in processing the damaged chromatin template during DSB repair. (PMID:26034280)
• Study identified ANP32E as one of the miR-141 targets, and demonstrated its involvement in the regulation of cell proliferation, migration, and invasion of breast cancer cells. (PMID:28220627)
• ANP32E is an efficient prognostic marker, and it promotes the G1/S transition and induces tumorigenesis of Triple-negative breast cancer cells by transcriptionally inducing E2F1. (PMID:29633513)
• A systems biology approach allowed us to identify a comprehensive mechanism of action of steroid-refractoriness, highlighting the key role of steroid-induced transcription and the potential implication of ANP32E in this phenomenon. (PMID:30329026)
• Findings suggest that ANP32E promotes THCA cell proliferation and migration via potentiating AKT/mTOR/HK2-mediated glycolysis. (PMID:32304784)
• Hsa-let-7c exerts an anti-tumor function by negatively regulating ANP32E in lung adenocarcinoma. (PMID:32746998)
• Over-expression of ANP32E is associated with poor prognosis of pancreatic cancer and promotes cell proliferation and migration through regulating beta-catenin. (PMID:33148205)
• Subtype-Independent ANP32E Reduction During Breast Cancer Progression in Accordance with Chromatin Relaxation. (PMID:34922480)
• ANP32E contributes to gastric cancer progression via NUF2 upregulation. (PMID:35795988)
• An Influenza A virus can evolve to use human ANP32E through altering polymerase dimerization. (PMID:37816726)
• ANP32e Binds Histone H2A.Z in a Cell Cycle-Dependent Manner and Regulates Its Protein Stability in the Cytoplasm. (PMID:38482865)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	anp32e	ENSDARG00000054804
mus_musculus	Anp32e	ENSMUSG00000015749
rattus_norvegicus	Anp32e	ENSRNOG00000021168
drosophila_melanogaster	Mapmodulin	FBGN0034282
caenorhabditis_elegans	F33H2.3	WBGENE00009367
caenorhabditis_elegans		WBGENE00020588

Paralogs (3): ANP32B (ENSG00000136938), ANP32D (ENSG00000139223), ANP32A (ENSG00000140350)

Protein

Protein identifiers

Acidic leucine-rich nuclear phosphoprotein 32 family member E — Q9BTT0 (reviewed: Q9BTT0)

Alternative names: LANP-like protein

All UniProt accessions (7): Q9BTT0, E9PI45, E9PLC4, E9PPH5, H0YCE2, Q5TB19, Q5TB25

UniProt curated annotations — full annotation on UniProt →

Function. Histone chaperone that specifically mediates the genome-wide removal of histone H2A.Z/H2AZ1 from the nucleosome: removes H2A.Z/H2AZ1 from its normal sites of deposition, especially from enhancer and insulator regions. Not involved in deposition of H2A.Z/H2AZ1 in the nucleosome. May stabilize the evicted H2A.Z/H2AZ1-H2B dimer, thus shifting the equilibrium towards dissociation and the off-chromatin state. Inhibits activity of protein phosphatase 2A (PP2A). Does not inhibit protein phosphatase 1. May play a role in cerebellar development and synaptogenesis.

Subunit / interactions. Interacts with the importin alpha KPNA1 and KPNA2. Component of a SWR1-like complex, composed of EP400, KAT5/TIP60, TRRAP, BRD8, RUVBL1, RUVBL2, ING3 and ANP32E; the complex does not contain SRCAP. Interacts with H2A.Z/H2AZ1.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Expressed in peripheral blood leukocytes, colon, small intestine, prostate, thymus, spleen, skeletal muscle, liver and kidney.

Post-translational modifications. Phosphorylated. The phosphorylation is nuclear localization signal (NLS)-dependent.

Domain organisation. The H2A.Z-interacting domain (ZID) mediates a direct interaction with H2A.Z/H2AZ1.

Similarity. Belongs to the ANP32 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BTT0-1	1	yes
Q9BTT0-2	2
Q9BTT0-3	3

RefSeq proteins (5): NP_001129950, NP_001129951, NP_001267488, NP_001267489, NP_112182* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR045081	AN32	Family

Pfam: PF14580

UniProt features (20 total): repeat 4, compositionally biased region 3, splice variant 2, mutagenesis site 2, region of interest 2, chain 1, modified residue 1, cross-link 1, sequence conflict 1, helix 1, strand 1, domain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4CAY	X-RAY DIFFRACTION	1.48
4NFT	X-RAY DIFFRACTION	2.61

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BTT0-F1	76.34	0.54

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 (2): 1, 68

Mutagenesis-validated functional residues (2):

Position	Phenotype
218–222	in anp32e-m1; abolished ability to interact with the h2a.z/h2az1-h2b dimer.
232–235	in anp32e-m2; abolished ability to interact with the h2a.z/h2az1-h2b dimer.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 326 (showing top): E2F_Q4_01, FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, PAL_PRMT5_TARGETS_UP, KOINUMA_COLON_CANCER_MSI_UP, YANG_BREAST_CANCER_ESR1_LASER_DN, MODULE_453, DOANE_BREAST_CANCER_CLASSES_DN, GNF2_RRM1, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_PROTEIN_MATURATION, CATTTCA_MIR203, ONKEN_UVEAL_MELANOMA_UP, GNF2_ANP32B, DOANE_RESPONSE_TO_ANDROGEN_DN

GO Biological Process (3): chromatin organization (GO:0006325), regulation of apoptotic process (GO:0042981), protein folding (GO:0006457)

GO Molecular Function (5): phosphatase inhibitor activity (GO:0019212), histone binding (GO:0042393), protein folding chaperone (GO:0044183), histone chaperone activity (GO:0140713), protein binding (GO:0005515)

GO Cellular Component (8): Swr1 complex (GO:0000812), nucleus (GO:0005634), synaptic vesicle membrane (GO:0030672), cytoplasmic vesicle (GO:0031410), postsynaptic density membrane (GO:0098839), postsynaptic endosome membrane (GO:0098895), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular component organization	1
apoptotic process	1
regulation of programmed cell death	1
cellular process	1
protein maturation	1
enzyme inhibitor activity	1
phosphatase activity	1
phosphatase regulator activity	1
protein binding	1
molecular_function	1
protein folding	1
histone binding	1
protein carrier activity	1
binding	1
histone deacetylase complex	1
nuclear chromosome	1
INO80-type complex	1
intracellular membrane-bounded organelle	1
synaptic vesicle	1
exocytic vesicle membrane	1
cytoplasm	1
intracellular vesicle	1
postsynaptic density	1
postsynaptic membrane	1
postsynaptic specialization membrane	1
endosome membrane	1
postsynaptic endosome	1
synapse	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1172 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANP32E	EP400	Q96L91	891
ANP32E	H2AZ1	P0C0S5	782
ANP32E	KAT5	Q92993	780
ANP32E	H2AC20	Q16777	658
ANP32E	H2AC19	P20670	658
ANP32E	VPS72	Q15906	637
ANP32E	SRCAP	Q6ZRS2	605
ANP32E	H2BC21	Q16778	598
ANP32E	ZBTB6	Q15916	509
ANP32E	CKS1B	P33551	450
ANP32E	DMAP1	Q9NPF5	437
ANP32E	SUPT16H	Q9Y5B9	432
ANP32E	GAS2L3	Q86XJ1	432
ANP32E	HIRA	P54198	431
ANP32E	G2E3	Q7L622	411

IntAct

52 interactions, top by confidence:

A	B	Type	Score
KPNA6	RNMT	psi-mi:“MI:0914”(association)	0.800
H2AZ1	ZNHIT1	psi-mi:“MI:0914”(association)	0.770
ANP32E	H2AZ1	psi-mi:“MI:0914”(association)	0.770
ANP32E	H2AZ1	psi-mi:“MI:0915”(physical association)	0.770
H2BC1	PPM1G	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
MRGBP	ANP32E	psi-mi:“MI:0915”(physical association)	0.580
H2BC26	PPM1G	psi-mi:“MI:0914”(association)	0.530
ANP32E	KPNA6	psi-mi:“MI:0914”(association)	0.530
ANP32E	YEATS4	psi-mi:“MI:0914”(association)	0.500
H2BC10	H2AZ1	psi-mi:“MI:0914”(association)	0.460
ANP32E	H2BC11	psi-mi:“MI:0407”(direct interaction)	0.440
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
ANP32E	ZNHIT1	psi-mi:“MI:0915”(physical association)	0.400
ANP32E	PARP1	psi-mi:“MI:0915”(physical association)	0.400
OTUB1	EPM2A	psi-mi:“MI:0914”(association)	0.350
KPNA1	MTA3	psi-mi:“MI:0914”(association)	0.350

BioGRID (142): ANP32E (Affinity Capture-MS), ANP32E (Affinity Capture-RNA), AHCYL1 (Co-fractionation), AHCYL2 (Co-fractionation), ANP32E (Co-fractionation), ANP32E (Co-fractionation), DMAP1 (Co-fractionation), PAPPA (Co-fractionation), VPS72 (Co-fractionation), ANP32E (Proximity Label-MS), ANP32E (Affinity Capture-MS), ANP32E (Affinity Capture-MS), ANP32E (Affinity Capture-MS), ANP32E (Affinity Capture-MS), ANP32E (Reconstituted Complex)

ESM2 similar proteins: G3V9R8, O35381, O43423, O60812, O77768, O88978, P07910, P0DME0, P19600, P39687, P49911, P50503, P51122, P97822, Q01105, Q1RMR5, Q28XE2, Q32KP2, Q3SZC6, Q4KLJ8, Q4R3F0, Q5F4A3, Q5RA82, Q5REE1, Q5UAK0, Q5XIE0, Q5ZKT9, Q5ZLF0, Q5ZMN0, Q63945, Q64G17, Q6A1I3, Q6NUW5, Q6P1U7, Q6PAF6, Q7ZUP0, Q7ZY40, Q86X45, Q8AVC1, Q8HY67

Diamond homologs: O01615, O35381, O62220, O95626, P39687, P49911, P51122, P97822, Q28XE2, Q3SZC6, Q5F4A3, Q5XIE0, Q5ZMN0, Q64G17, Q6A1I3, Q6NUW5, Q6P1U7, Q6PAF6, Q6YSF3, Q7ZUP0, Q86QS6, Q8AVC1, Q8HY67, Q8ILI6, Q92688, Q9BTT0, Q9EST5, Q9EST6, Q9SCQ7, Q9V895, O43423, O88984, Q4P5F9, Q5BGW9, Q7Y180, Q7ZY40, Q9UBU9, Q9V4Q8, P34390, Q5Y2C3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 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
Replacement of protamines by nucleosomes in the male pronucleus	5	36.7×	3e-06
Assembly of the ORC complex at the origin of replication	8	35.8×	1e-08
FXIIa activates plasma kallikrein-kinin system	7	32.7×	2e-07
RNA Polymerase I Promoter Opening	6	29.9×	1e-06
ChAHP complex assembly	6	29.9×	1e-06
Packaging Of Telomere Ends	5	29.7×	6e-06
DNA methylation	6	28.9×	1e-06
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	7	28.8×	4e-07

GO biological processes:

GO term	Partners	Fold	FDR
protein import into nucleus	5	18.0×	2e-03
nucleosome assembly	5	17.6×	2e-03
chromatin organization	5	12.4×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1099 predictions. Top by Δscore:

Variant	Effect	Δscore
1:150220759:CTT:C	acceptor_gain	1.0000
1:150220762:C:CC	acceptor_gain	1.0000
1:150220763:T:C	acceptor_gain	1.0000
1:150220763:T:TC	acceptor_gain	1.0000
1:150220770:G:GC	acceptor_gain	1.0000
1:150223180:ACTC:A	donor_loss	1.0000
1:150223181:CTCA:C	donor_loss	1.0000
1:150223182:TCA:T	donor_loss	1.0000
1:150223183:CA:C	donor_loss	1.0000
1:150223184:AC:A	donor_gain	1.0000
1:150223185:CC:C	donor_gain	1.0000
1:150223185:CCCT:C	donor_gain	1.0000
1:150223240:CCT:C	acceptor_gain	1.0000
1:150223242:T:C	acceptor_gain	1.0000
1:150223300:T:C	acceptor_gain	1.0000
1:150223305:A:AC	acceptor_gain	1.0000
1:150223305:A:C	acceptor_gain	1.0000
1:150223313:C:CT	acceptor_gain	1.0000
1:150223313:C:T	acceptor_gain	1.0000
1:150223314:A:T	acceptor_gain	1.0000
1:150223316:C:CT	acceptor_gain	1.0000
1:150226603:TTCAC:T	donor_loss	1.0000
1:150226605:CA:C	donor_loss	1.0000
1:150226606:A:AG	donor_loss	1.0000
1:150226645:T:TA	donor_gain	1.0000
1:150226792:CCAT:C	acceptor_gain	1.0000
1:150226793:CAT:C	acceptor_gain	1.0000
1:150226793:CATC:C	acceptor_gain	1.0000
1:150226796:C:CC	acceptor_gain	1.0000
1:150226797:T:C	acceptor_gain	1.0000

AlphaMissense

1799 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:150229131:A:G	L145S	1.000
1:150229206:A:G	L120P	1.000
1:150229212:A:G	L118P	1.000
1:150229212:A:T	L118H	1.000
1:150229221:A:G	L115S	1.000
1:150230604:G:C	N98K	1.000
1:150230604:G:T	N98K	1.000
1:150230614:A:G	L95P	1.000
1:150230614:A:T	L95Q	1.000
1:150230620:A:G	L93P	1.000
1:150230620:A:T	L93H	1.000
1:150230629:A:T	L90H	1.000
1:150230676:A:C	N74K	1.000
1:150230676:A:T	N74K	1.000
1:150230692:A:G	L69S	1.000
1:150231784:A:T	L66H	1.000
1:150229125:C:T	G147E	0.999
1:150229127:A:C	D146E	0.999
1:150229127:A:T	D146E	0.999
1:150229128:T:A	D146V	0.999
1:150229128:T:C	D146G	0.999
1:150229128:T:G	D146A	0.999
1:150229129:C:G	D146H	0.999
1:150229196:A:C	C123W	0.999
1:150229198:A:G	C123R	0.999
1:150229206:A:T	L120Q	0.999
1:150229221:A:C	L115W	0.999
1:150230599:A:G	I100T	0.999
1:150230605:T:A	N98I	0.999
1:150230606:T:A	N98Y	0.999

dbSNP variants (sampled 300 via entrez): RS1000137629 (1:150235405 G>A), RS1000421211 (1:150228125 T>C), RS1000646120 (1:150227969 A>G), RS1001538834 (1:150234323 C>G), RS1001855552 (1:150219510 G>A), RS1001920898 (1:150218997 A>G), RS1002143637 (1:150227535 G>A), RS1002543662 (1:150232897 A>G), RS1002739703 (1:150225581 G>A,C), RS1003117483 (1:150218130 T>C), RS1003768286 (1:150231317 G>A,C,T), RS1003955624 (1:150230996 G>A), RS1004384173 (1:150221072 G>A), RS1004438026 (1:150221381 G>C), RS1004604047 (1:150228731 T>C)

Disease associations

OMIM: gene MIM:609611 | disease phenotypes: MIM:615285

GenCC curated gene-disease

Mondo (1): congenital neutropenia-myelofibrosis-nephromegaly syndrome (MONDO:0014118)

Orphanet (1): Congenital neutropenia-myelofibrosis-nephromegaly syndrome (Orphanet:369852)

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002539_32	Schizophrenia	4.000000e-10
GCST006803_67	Schizophrenia	7.000000e-10
GCST007565_190	Morning person	8.000000e-26
GCST008103_32	Bipolar disorder	5.000000e-08
GCST010002_366	Refractive error	3.000000e-15
GCST90002389_68	Lymphocyte percentage of white cells	8.000000e-11
GCST90002399_4	Neutrophil percentage of white cells	5.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008328	chronotype measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	affects cotreatment, increases expression	3
Cyclosporine	decreases expression, increases expression	3
sodium arsenite	decreases expression	2
perfluorooctane sulfonic acid	decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	2
Resveratrol	increases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
Coumestrol	affects cotreatment, increases expression, affects reaction	2
Valproic Acid	affects expression, decreases expression	2
Cadmium Chloride	decreases expression	2
Particulate Matter	affects expression, decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases expression	1
3,4-dichloroaniline	decreases expression	1
benzo(e)pyrene	decreases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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