HMGN2

Summary

HMGN2 (high mobility group nucleosomal binding domain 2, HGNC:4986) is a protein-coding gene on chromosome 1p36.11, encoding Non-histone chromosomal protein HMG-17 (P05204). Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. It is a selective cancer dependency (DepMap: 39.4% of cell lines).

The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMGN1, the encoded protein may help maintain an open chromatin configuration around transcribable genes. The protein has also been found to have antimicrobial activity against bacteria, viruses and fungi.

Source: NCBI Gene 3151 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 11 total
• Cancer dependency (DepMap): dependent in 39.4% of screened cell lines
• MANE Select transcript: NM_005517

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4986
Approved symbol	HMGN2
Name	high mobility group nucleosomal binding domain 2
Location	1p36.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000198830
Ensembl biotype	protein_coding
OMIM	163910
Entrez	3151

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 22 protein_coding, 8 protein_coding_CDS_not_defined

ENST00000361427, ENST00000460563, ENST00000463817, ENST00000464888, ENST00000466194, ENST00000467700, ENST00000468388, ENST00000479815, ENST00000493418, ENST00000718304, ENST00000875381, ENST00000875382, ENST00000875383, ENST00000875384, ENST00000875385, ENST00000875386, ENST00000875387, ENST00000875388, ENST00000875389, ENST00000875390, ENST00000928458, ENST00000928459, ENST00000928460, ENST00000928461, ENST00000928462, ENST00000928463, ENST00000928464, ENST00000928465, ENST00000957194, ENST00000957195

RefSeq mRNA: 1 — MANE Select: NM_005517 NM_005517

CCDS: CCDS283

Canonical transcript exons

ENST00000361427 — 6 exons

Exon	Start	End
ENSE00001766356	26475113	26476642
ENSE00001933433	26472440	26472627
ENSE00003503865	26474572	26474667
ENSE00003518453	26473483	26473527
ENSE00003601715	26474085	26474135
ENSE00003668306	26473703	26473732

Expression profiles

Bgee: expression breadth ubiquitous, 136 present calls, max score 99.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.9931 / max 292.7918, expressed in 1824 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
1623	31.6361	1818
1622	18.1732	1812
1624	2.1320	985
1626	1.8171	805
1625	0.2346	82

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	99.91	gold quality
ganglionic eminence	UBERON:0004023	99.80	gold quality
pituitary gland	UBERON:0000007	99.51	gold quality
right uterine tube	UBERON:0001302	99.51	gold quality
adenohypophysis	UBERON:0002196	99.47	gold quality
bone marrow cell	CL:0002092	99.46	gold quality
left ovary	UBERON:0002119	99.45	gold quality
thyroid gland	UBERON:0002046	99.43	gold quality
endometrium	UBERON:0001295	99.42	gold quality
ovary	UBERON:0000992	99.41	gold quality
right lobe of thyroid gland	UBERON:0001119	99.41	gold quality
left lobe of thyroid gland	UBERON:0001120	99.41	gold quality
endocervix	UBERON:0000458	99.40	gold quality
fallopian tube	UBERON:0003889	99.39	gold quality
body of uterus	UBERON:0009853	99.38	gold quality
right ovary	UBERON:0002118	99.37	gold quality
bone marrow	UBERON:0002371	99.37	gold quality
cortical plate	UBERON:0005343	99.36	gold quality
lymph node	UBERON:0000029	99.34	gold quality
tonsil	UBERON:0002372	99.34	gold quality
vermiform appendix	UBERON:0001154	99.32	gold quality
uterine cervix	UBERON:0000002	99.30	gold quality
rectum	UBERON:0001052	99.29	gold quality
mucosa of transverse colon	UBERON:0004991	99.29	gold quality
ectocervix	UBERON:0012249	99.29	gold quality
prostate gland	UBERON:0002367	99.28	gold quality
right lung	UBERON:0002167	99.27	gold quality
smooth muscle tissue	UBERON:0001135	99.26	gold quality
spleen	UBERON:0002106	99.26	gold quality
myometrium	UBERON:0001296	99.24	gold quality

Single-cell (SCXA)

Detected in 70 experiment(s), a significant marker in 45.

Experiment	Marker?	Max mean expression
E-MTAB-9906	yes	5909.74
E-MTAB-10042	yes	5851.03
E-GEOD-93593	yes	5384.66
E-CURD-79	yes	4977.31
E-HCAD-5	yes	4522.41
E-HCAD-31	yes	4375.24
E-MTAB-8221	yes	3855.78
E-MTAB-10662	yes	3567.65
E-MTAB-9435	yes	3496.63
E-CURD-112	yes	3492.98
E-HCAD-24	yes	3436.67
E-MTAB-9067	yes	3434.05
E-HCAD-56	yes	3267.13
E-GEOD-130148	yes	3240.65
E-CURD-120	yes	2889.10

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, E2F4, MYC, PITX2

miRNA regulators (miRDB)

95 targeting HMGN2, 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-6867-5P	100.00	82.21	3464
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 39.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 26)

• fragment of the HMGN2 protein homes to the nuclei of tumor cells and tumor endothelial cells and tumor endothelial cells in vivo (PMID:12032302)
• A polypeptide, HMGN2, was isolated and may be an antimicrobial effector molecule of mononuclear leukocytes. (PMID:16204630)
• These studies demonstrate that the mode of binding of HMGNs to chromatin is cell cycle dependent. (PMID:18287527)
• each of the 4 amino acids in the R-S-RL motif are the only residues absolutely essential for anchoring HMGN protein to nucleosomes, both in vivo and in vitro. (PMID:18299391)
• HMGN1 (HMG14) and HMGN2 (HMG17) potently repress ATP-dependent chromatin remodeling by four different molecular motor proteins. (PMID:19524541)
• HMGN2 protein has antimicrobial activity and is probably involved in innate immunity in vivo. (PMID:20842856)
• HMGN2 acts as a positive modulator of nuclear factor kappaB signalling to promote lipopolysaccharide-induced beta-defensin-2 expression. (PMID:21518253)
• HMGN2 binds to both the acidic patch in the histone H2A-H2B dimer and to nucleosomal DNA near the entry/exit point, “stapling” the histone core and the DNA. (PMID:21730181)
• The association of the PRLr with HMGN2 enables Stat5a-responsive promoter binding, thus facilitating transcriptional activation and promoting anchorage-independent growth. (PMID:21816901)
• HMGN2 is a bona fide Aurora B substrate in vivo and show that its dynamic association to chromatin is controlled by Aurora B. (PMID:22267324)
• HMGN2 is modified by covalent attachment of small ubiquitin-related modifier 1 (SUMO1) by pro-inflammatory signal and identified the major SUMOylated lysine residues that localize to the HMGN2 nucleosome-binding domain at Lys-17 and Lys-35. (PMID:24872413)
• HMGN2 is an anti-tumor effector molecule of CD8 T cells. (PMID:25060707)
• Data show that chronic lymphocytic leukemia (CLL) cells present high-mobility group nucleosome-binding protein 2 (HMGN2) at membrane. (PMID:25156469)
• enhanced expression of HMGN2 in osteosarcoma cells by HMGN2 lentivirus, exerts inhibitory effects on growth and migration of osteosarcoma cells. (PMID:25530340)
• Results provide evidence that HDAC6 could regulate HMGN2 acetylation levels and binding to Stat5a-responsive promoters, and therefore, Stat5a transcriptional activity in breast cancer cells. (PMID:27358110)
• Data show that high mobility group nucleosomal binding domain 2 (HMGN2) knockdown induced the increased expression of alpha5beta1 integrin on cell membranes, which resulted in a significant increase in Klebsiella pneumoniae internalization. (PMID:27460641)
• elucidate a novel mechanism whereby the linker histone H1 prevents STAT5 binding at promoter DNA, and the PRL-induced dissociation of H1 mediated by HMGN2 is necessary to allow full STAT5 recruitment and promote the biological effects of PRL signaling (PMID:28035005)
• these results uncover a novel link between nuclear protein HMGN2 and Nrf2-mediated cellular redox circumstance and suggest roles of HMGN2 in autonomous immune response to Pseudomonas aeruginosa infection (PMID:28408162)
• HMGN1 and HMGN2 remodel core and linker histone tail domains within chromatin. (PMID:28973435)
• This study suggests that HMGN2 is an antitumor effector molecule of gammadeltaT cells. (PMID:29401165)
• Urinary tract infection is one of the most common bacterial infections which is mainly caused by Escherichia coli (UPEC). HMGN2 expression is elevated in bladder epithelial cell line 5637 (BEC 5637). HMGN2 induces autophagy in BEC 5637 via AMPK/ULK1 pathway. Viable UPEC J96 suppresses autophagy in BEC 5637. HMGN2 boosts UPEC J96 proliferation in BEC 5637. (PMID:30952427)
• High-mobility group nucleosomal binding domain 2 protects against microcephaly by maintaining global chromatin accessibility during corticogenesis. (PMID:31699896)
• Transcriptomic analysis of peripheral blood mononuclear cells in head and neck squamous cell carcinoma patients. (PMID:32892371)
• High mobility group nucleosomal binding 2 reduces integrin alpha5/beta1-mediated adhesion of Klebsiella pneumoniae on human pulmonary epithelial cells via nuclear factor I. (PMID:33034909)
• Prognostic value of HMGN family expression in acute myeloid leukemia. (PMID:33467898)
• Prolactin Drives a Dynamic STAT5A/HDAC6/HMGN2 Cis-Regulatory Landscape Exploitable in ER+ Breast Cancer. (PMID:33589921)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	hmgn2	ENSDARG00000099572

Paralogs (3): HMGN3 (ENSG00000118418), HMGN4 (ENSG00000182952), HMGN1 (ENSG00000205581)

Protein

Protein identifiers

Non-histone chromosomal protein HMG-17 — P05204 (reviewed: P05204)

Alternative names: High mobility group nucleosome-binding domain-containing protein 2

All UniProt accessions (1): P05204

UniProt curated annotations — full annotation on UniProt →

Function. Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation.

Subcellular location. Nucleus. Cytoplasm.

Post-translational modifications. Phosphorylation favors cytoplasmic localization.

Similarity. Belongs to the HMGN family.

RefSeq proteins (1): NP_005508* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000079	HMGN_fam	Family

Pfam: PF01101

UniProt features (14 total): modified residue 4, compositionally biased region 3, sequence conflict 2, initiator methionine 1, chain 1, cross-link 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P05204-F1	67.23	0.00

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 (5): 82, 25, 29, 29, 82

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 300 (showing top): RNGTGGGC_UNKNOWN, E2F_Q4, E2F_Q4_01, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, MYOGENIN_Q6, WWTAAGGC_UNKNOWN, DORSAM_HOXA9_TARGETS_UP, PAX4_01, PAL_PRMT5_TARGETS_UP, NKX25_02, GCANCTGNY_MYOD_Q6, MAZ_Q6, RIZ_ERYTHROID_DIFFERENTIATION_CCNE1, HSIAO_HOUSEKEEPING_GENES, AP4_Q6

GO Biological Process (3): chromatin organization (GO:0006325), killing of cells of another organism (GO:0031640), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844)

GO Molecular Function (5): chromatin binding (GO:0003682), RNA binding (GO:0003723), nucleosomal DNA binding (GO:0031492), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (4): chromatin (GO:0000785), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
nucleic acid binding	2
cellular anatomical structure	2
cellular component organization	1
cell killing	1
disruption of cell in another organism	1
antimicrobial humoral response	1
chromatin DNA binding	1
nucleosome binding	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

3109 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HMGN2	HMGN1	P05114	986
HMGN2	HMGN5	P82970	905
HMGN2	H1-0	P07305	640
HMGN2	ZNF219	Q9P2Y4	639
HMGN2	SRY	Q05066	591
HMGN2	H2AC19	P20670	581
HMGN2	SYTL2	Q9HCH5	580
HMGN2	H2AC20	Q16777	576
HMGN2	H2BC21	Q16778	562
HMGN2	SLC6A9	P48067	544
HMGN2	TXNRD2	Q9NNW7	543
HMGN2	H3C1	P02295	525
HMGN2	H3-4	Q16695	510
HMGN2	H3C14	Q71DI3	508
HMGN2	H3-3A	P06351	505
HMGN2	H3-5	Q6NXT2	505

IntAct

104 interactions, top by confidence:

A	B	Type	Score
PARP2	HMGN2	psi-mi:“MI:0557”(adp ribosylation reaction)	0.590
HMGN2	GBE1	psi-mi:“MI:0914”(association)	0.530
HMGN2	TERF2	psi-mi:“MI:0915”(physical association)	0.510
LRRK2	HMGN2	psi-mi:“MI:0407”(direct interaction)	0.440
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
GRB2	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
HMGN2	BAZ2B	psi-mi:“MI:0915”(physical association)	0.400
H1-1	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
TWF2	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
RPL23A	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
MYL2	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
MXRA5	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
PCLO	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
SHOC2	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
AIDA	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
ARHGAP27	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
H1-5	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
LRRIQ4	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
KCNK16	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
STAC3	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
UBAC1	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
ASXL1	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
ABCF1	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
ATPAF2	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
MON2	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
WNK1	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
CHD6	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
PCF11	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
ARHGAP4	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
HMGN2	TLX3	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (311): HMGN2 (Synthetic Lethality), HMGN2 (Biochemical Activity), HMGN2 (Biochemical Activity), HMGN2 (Reconstituted Complex), HMGN2 (Affinity Capture-MS), KLHL36 (Affinity Capture-MS), PARP2 (Affinity Capture-MS), CHMP1A (Affinity Capture-MS), H2AFY (Affinity Capture-MS), PYGB (Affinity Capture-MS), GBE1 (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HMGN2 (Two-hybrid), HMGN2 (Affinity Capture-MS), HMGN2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTR3, O00479, O14598, P02313, P02314, P02315, P02316, P05114, P05204, P09602, P0DPH9, P10156, P12274, P12902, P18437, P18608, P22058, P49342, P80272, Q04504, Q15651, Q29026, Q2YDK4, Q32N87, Q32PF3, Q3ZBV4, Q4VC05, Q5FVI4, Q5R715, Q5RAA0, Q5RCI9, Q5XXA9, Q5ZIR5, Q5ZM33, Q66H40, Q6P8I4, Q711A6, Q80XU3, Q8C551, Q8N111

Diamond homologs: O00479, P02313, P02314, P05204, P09602, P12902, P18437, P80272, Q15651, Q2YDK4, Q3ZBV4, Q5R715, Q5RAA0, Q66H40, Q711A6, Q9DCB1, P02316, P05114, P12274, P18608, P82970, Q5ZIR5

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
RPS6KA3	“down-regulates activity”	HMGN2	phosphorylation
PRKCA	down-regulates	HMGN2	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 109 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
Condensation of Prophase Chromosomes	10	22.7×	8e-09
Packaging Of Telomere Ends	7	22.3×	2e-06
ChAHP complex assembly	8	21.4×	5e-07
Recognition and association of DNA glycosylase with site containing an affected purine	7	20.7×	2e-06
Cleavage of the damaged purine	7	20.7×	2e-06
Recognition and association of DNA glycosylase with site containing an affected pyrimidine	7	18.7×	3e-06
Cleavage of the damaged pyrimidine	7	18.7×	3e-06
RNA Polymerase I Promoter Opening	7	18.7×	3e-06

GO biological processes:

GO term	Partners	Fold	FDR
nucleosome assembly	10	14.3×	1e-06
chromatin organization	9	9.1×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

662 predictions. Top by Δscore:

Variant	Effect	Δscore
1:26472623:GAAAG:G	donor_gain	1.0000
1:26472624:AAAGG:A	donor_loss	1.0000
1:26472627:GGT:G	donor_loss	1.0000
1:26472628:G:GC	donor_loss	1.0000
1:26472629:T:G	donor_loss	1.0000
1:26473528:G:GG	donor_gain	1.0000
1:26473733:G:GG	donor_gain	1.0000
1:26474073:T:A	acceptor_gain	1.0000
1:26474077:A:AG	acceptor_gain	1.0000
1:26474078:A:G	acceptor_gain	1.0000
1:26474134:AGGT:A	donor_loss	1.0000
1:26474136:G:GA	donor_loss	1.0000
1:26474570:A:AG	acceptor_gain	1.0000
1:26474570:AGAAG:A	acceptor_gain	1.0000
1:26474571:G:GG	acceptor_gain	1.0000
1:26474571:GA:G	acceptor_gain	1.0000
1:26474571:GAA:G	acceptor_gain	1.0000
1:26474571:GAAGG:G	acceptor_gain	1.0000
1:26474664:CCAGG:C	donor_loss	1.0000
1:26474665:CAGG:C	donor_loss	1.0000
1:26474666:AGG:A	donor_loss	1.0000
1:26474667:GGTAT:G	donor_loss	1.0000
1:26474668:G:GA	donor_loss	1.0000
1:26474669:T:A	donor_loss	1.0000
1:26472628:G:GG	donor_gain	0.9900
1:26473525:GAA:G	donor_gain	0.9900
1:26473701:A:AG	acceptor_gain	0.9900
1:26473702:G:GG	acceptor_gain	0.9900
1:26473730:GCT:G	donor_gain	0.9900
1:26474079:A:AG	acceptor_gain	0.9900

AlphaMissense

582 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:26473711:A:C	R23S	0.987
1:26473711:A:T	R23S	0.987
1:26473714:A:C	R24S	0.986
1:26473714:A:T	R24S	0.986
1:26473723:G:C	R27S	0.980
1:26473723:G:T	R27S	0.980
1:26473722:G:T	R27M	0.978
1:26473725:T:C	L28S	0.972
1:26472624:A:C	R4S	0.971
1:26472624:A:T	R4S	0.971
1:26473713:G:C	R24T	0.968
1:26473710:G:C	R23T	0.967
1:26473722:G:C	R27T	0.960
1:26473721:A:T	R27W	0.958
1:26473710:G:T	R23I	0.957
1:26473725:T:G	L28W	0.957
1:26473713:G:T	R24I	0.951
1:26472623:G:C	R4T	0.929
1:26472623:G:T	R4I	0.926
1:26473721:A:G	R27G	0.923
1:26474114:G:C	K40N	0.920
1:26474114:G:T	K40N	0.920
1:26474087:A:C	K31N	0.907
1:26474087:A:T	K31N	0.907
1:26472621:G:C	K3N	0.906
1:26472621:G:T	K3N	0.906
1:26474102:G:C	K36N	0.906
1:26474102:G:T	K36N	0.906
1:26474646:T:A	N72K	0.896
1:26474646:T:G	N72K	0.896

dbSNP variants (sampled 300 via entrez): RS1000031199 (1:26470506 T>C,G), RS1000046440 (1:26475269 A>G), RS1000099764 (1:26475547 A>C), RS1000318909 (1:26470738 G>A), RS1000590481 (1:26473278 T>C), RS1000980874 (1:26472383 T>A,C,G), RS1002148064 (1:26471413 G>A), RS1002154167 (1:26473214 C>T), RS1002249368 (1:26471144 A>G), RS1002310256 (1:26476200 G>A), RS1002505420 (1:26473075 C>G), RS1002605568 (1:26476852 ATC>A,ATCTC), RS1002659382 (1:26477088 T>G), RS1002694048 (1:26474838 G>A), RS1003156287 (1:26474569 C>T)

Disease associations

OMIM: gene MIM:163910 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005790_76	Rosacea symptom severity	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009180	rosacea severity measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, increases expression	4
bisphenol A	affects expression, decreases expression, increases expression	3
Arsenic Trioxide	increases expression, increases response to substance	3
bisphenol S	increases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, increases expression	2
Potassium Dichromate	increases expression	2
Genistein	decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
propionaldehyde	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
o,p’-DDT	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
diallyl trisulfide	decreases expression	1
2,3-dimethoxy-1,4-naphthoquinone	increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
bisphenol B	increases expression	1
bisphenol AF	increases expression	1
Resveratrol	decreases expression	1
Temozolomide	increases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2YU	Abcam HEK293T HMGN2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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