ELK3

Summary

ELK3 (ETS transcription factor ELK3, HGNC:3325) is a protein-coding gene on chromosome 12q23.1, encoding ETS domain-containing protein Elk-3 (P41970). May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos.

This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 2004 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 70 total
• Druggable target: yes
• Transcription factor: yes — 28 downstream targets (CollecTRI)
• MANE Select transcript: NM_005230

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3325
Approved symbol	ELK3
Name	ETS transcription factor ELK3
Location	12q23.1
Locus type	gene with protein product
Status	Approved
Aliases	ERP, NET, SAP2
Ensembl gene	ENSG00000111145
Ensembl biotype	protein_coding
OMIM	600247
Entrez	2004

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000228741, ENST00000547249, ENST00000547860, ENST00000549529, ENST00000549985, ENST00000552142, ENST00000883485, ENST00000883486, ENST00000883487, ENST00000883488, ENST00000937580

RefSeq mRNA: 7 — MANE Select: NM_005230 NM_001413760, NM_001413761, NM_001413762, NM_001413763, NM_001413764, NM_001413765, NM_005230

CCDS: CCDS9060

Canonical transcript exons

ENST00000228741 — 5 exons

Exon	Start	End
ENSE00000753493	96246940	96247734
ENSE00000817989	96223565	96223773
ENSE00002330884	96194375	96194705
ENSE00002382815	96267082	96269824
ENSE00003521512	96259731	96259853

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 97.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.1308 / max 333.8500, expressed in 1737 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127454	10.9417	1580
127455	7.6499	1487
127457	5.4901	981
127456	4.4143	1359
127471	0.3349	156
127458	0.1913	53
127474	0.0745	18
127473	0.0341	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	97.78	gold quality
synovial joint	UBERON:0002217	97.73	gold quality
amniotic fluid	UBERON:0000173	97.56	gold quality
urethra	UBERON:0000057	97.38	gold quality
visceral pleura	UBERON:0002401	97.37	gold quality
vena cava	UBERON:0004087	97.33	gold quality
pleura	UBERON:0000977	97.07	gold quality
parietal pleura	UBERON:0002400	97.01	gold quality
oral cavity	UBERON:0000167	96.68	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.66	gold quality
superficial temporal artery	UBERON:0001614	96.62	gold quality
epithelium of bronchus	UBERON:0002031	96.60	gold quality
skin of hip	UBERON:0001554	96.51	gold quality
bronchus	UBERON:0002185	96.51	gold quality
mammary duct	UBERON:0001765	96.38	gold quality
penis	UBERON:0000989	96.28	gold quality
pericardium	UBERON:0002407	96.09	gold quality
periodontal ligament	UBERON:0008266	96.02	gold quality
oocyte	CL:0000023	95.99	gold quality
esophagus squamous epithelium	UBERON:0006920	95.92	gold quality
epithelium of nasopharynx	UBERON:0001951	95.91	gold quality
nasopharynx	UBERON:0001728	95.89	gold quality
cartilage tissue	UBERON:0002418	95.78	gold quality
epithelium of mammary gland	UBERON:0003244	95.50	gold quality
epithelium of esophagus	UBERON:0001976	95.21	gold quality
saphenous vein	UBERON:0007318	95.07	gold quality
thoracic mammary gland	UBERON:0005200	94.31	gold quality
mammary gland	UBERON:0001911	94.25	gold quality
squamous epithelium	UBERON:0006914	94.24	gold quality
pharyngeal mucosa	UBERON:0000355	94.20	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	37.60
E-HCAD-10	yes	36.66
E-HCAD-1	yes	17.22
E-MTAB-6701	yes	16.18
E-MTAB-8271	yes	14.99
E-MTAB-9067	yes	13.64
E-MTAB-6678	yes	12.58
E-CURD-112	yes	10.47
E-MTAB-8410	yes	9.32
E-GEOD-83139	yes	6.75
E-GEOD-130148	yes	5.36
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

28 targets.

Target	Regulation
ACHE
APOA1
AQP5
CAV1	Unknown
CCND1	Repression
CCT8	Activation
CD44
CHAT
CHRNE
CNTF
DHFR	Repression
EGF
EGR1	Unknown
FOS	Unknown
HMOX1	Unknown
JUN
KRT8
MMP10
MYH6	Repression
NOS2	Activation
PCYT1A
PMEL
PRL
RHO
SERPINE1	Unknown
SLC6A2
SULT1A1
VEGFA	Activation

JASPAR motifs

Motif	Name	Family
MA0759.1	ELK3	Ets-related
MA0759.2	ELK3	Ets-related
MA0759.3	ELK3	Ets-related
MA1955.1	FOXO1::ELK3	FOX::Ets-related
MA1955.2	FOXO1::ELK3	FOX::Ets-related

JASPAR matrix evidence (PMIDs): PMID:20517297, PMID:31913281

Upstream regulators (CollecTRI, top): FOXO1, FOXO3, KDM6A

miRNA regulators (miRDB)

162 targeting ELK3, 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-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5692A	100.00	74.40	6850
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3658	99.96	73.87	4379

Literature-anchored findings (GeneRIF, showing 31)

• the Ras-Net (Elk-3) pathway involves microtubules and is inhibited by pyrazoles (PMID:18316589)
• These findings suggested that loss of Net repression could augment c-fos expression and further trigger neoplastic cell proliferation, which was involved in the pathogenesis of pancreatic cancer. (PMID:18832796)
• Decreased Net expression characterize on-small-cell lung cancer progression. (PMID:19483189)
• Net and HIF1alpha are components of distinct signaling pathways that are intricately linked (PMID:20427288)
• ELK3 plays a negative role of VEGF-induced angiogenesis through indirectly inhibiting ETS-1 function. (PMID:24719561)
• The oncogenic MicroRNA Hsa-miR-155-5p targets the transcription factor ELK3 and links it to the hypoxia response. (PMID:25401928)
• results suggest that ELK3 plays a positive role in the metastasis of BC cells by indirectly regulating MT1-MMP expression (PMID:26637400)
• We revealed that activation of the PI3K/Akt pathway was the main cause of impaired autophagy in ELK3 KD. Our results suggest that targeting ELK3 may be a potential approach to overcome doxorubicin resistance in breast cancer therapeutics. (PMID:27301639)
• The expression levels of Elk-3 in liver cirrhosis tissues were significantly higher than those in chronic hepatitis tissues. (PMID:27538444)
• These results suggest that the ELK3-GATA3 axis is a major pathway that promotes metastasis of breast cancer MDA-MB-231 cells (PMID:27556500)
• High expression of ELK3 is associated with migration and invasion of liver cancer stem cells. (PMID:27959451)
• Taken together, we suggest that ELK3 is an upstream regulator of the NF-kappaB signaling pathway, the inhibition of which leads to the suppression of peritumoral lymphatic vessel development, possibly due to a low VEGFC expression. (PMID:28188790)
• Study demonstrates that miR-135a regulates cell proliferation in breast cancer by targeting ELK1 and ELK3 oncogenes, and suggests that miR-135a potentially can act as a tumor suppressor. (PMID:29892795)
• These studies implicate the actin cytoskeleton and ELK3, FLI1, and MKL2 in the transcriptional control of EDNRB and increase our understanding of the plasticity of this receptor (PMID:30332284)
• In MDA-MB-231 breast cancer cells, knockdown of RSK2 or ELK3 suppressed cell proliferation with accumulation at the G1 cell cycle phase, resulting in inhibition of foci formation and anchorage-independent cancer colony growth in soft agar. (PMID:31018569)
• ELK3 expressed in lymphatic endothelial cells promotes breast cancer progression and metastasis through exosomal miRNAs. (PMID:31182803)
• ELK3 is a novel factor in the ZEB1/E-cadherin axis and ZEB1 has a dual role in ELK3 as a transcriptional activator and as a collaborator to repress E-cadherin expression in triple-negative breast cancer cells. (PMID:31511359)
• Silencing of ELK3 Induces S-M Phase Arrest and Apoptosis and Upregulates SERPINE1 Expression Reducing Migration in Prostate Cancer Cells. (PMID:32104682)
• LINC00662 promotes cell proliferation, migration and invasion of melanoma by sponging miR-890 to upregulate ELK3. (PMID:32894549)
• High ELK3 expression is associated with the VEGF-C/VEGFR-3 axis and gastric tumorigenesis and enhances infiltration of M2 macrophages. (PMID:33191789)
• LINC01106 post-transcriptionally regulates ELK3 and HOXD8 to promote bladder cancer progression. (PMID:33311496)
• [Expression characteristics and functional analysis of ELK3 in gastric cancer]. (PMID:34658341)
• ELK3 Controls Gastric Cancer Cell Migration and Invasion by Regulating ECM Remodeling-Related Genes. (PMID:35409069)
• Molecular and clinical features of a potential immunotherapy target ELK3 in glioma. (PMID:35905257)
• Circular RNA hsa_circ_0000144 aggravates ovarian Cancer progression by regulating ELK3 via sponging miR-610. (PMID:36243865)
• Deubiquitinase UCHL5 stabilizes ELK3 to potentiate cancer stemness and tumor progression in pancreatic adenocarcinoma (PAAD). (PMID:36328194)
• ELK3-CXCL16 axis determines natural killer cell cytotoxicity via the chemotactic activity of CXCL16 in triple negative breast cancer. (PMID:36950218)
• ELK3 Targeting AEG1 Promotes Migration and Invasion of Ovarian Cancer Cells under Hypoxia. (PMID:37394639)
• ETS transcription factor ELK3 in human cancers: An emerging therapeutic target. (PMID:37542863)
• ELK3-ID4 axis governs the metastatic features of triple negative breast cancer. (PMID:38188675)
• ELK3 destabilization by speckle-type POZ protein suppresses prostate cancer progression and docetaxel resistance. (PMID:38632244)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	elk3	ENSDARG00000018688
mus_musculus	Elk3	ENSMUSG00000008398
rattus_norvegicus	Elk3	ENSRNOG00000004367

Paralogs (28): ETV1 (ENSG00000006468), ETV7 (ENSG00000010030), SPI1 (ENSG00000066336), ELF4 (ENSG00000102034), ETV2 (ENSG00000105672), ERF (ENSG00000105722), ELF2 (ENSG00000109381), ETV3 (ENSG00000117036), ELF1 (ENSG00000120690), SPDEF (ENSG00000124664), ELK1 (ENSG00000126767), ETS1 (ENSG00000134954), EHF (ENSG00000135373), ELF5 (ENSG00000135374), ETV6 (ENSG00000139083), FLI1 (ENSG00000151702), GABPA (ENSG00000154727), ERG (ENSG00000157554), ETS2 (ENSG00000157557), ELK4 (ENSG00000158711), ELF3 (ENSG00000163435), FEV (ENSG00000163497), SPIC (ENSG00000166211), ETV4 (ENSG00000175832), ETV5 (ENSG00000244405), ETV3L (ENSG00000253831), ERFL (ENSG00000268041), SPIB (ENSG00000269404)

Protein

Protein identifiers

ETS domain-containing protein Elk-3 — P41970 (reviewed: P41970)

Alternative names: ETS-related protein ERP, ETS-related protein NET, Serum response factor accessory protein 2

All UniProt accessions (5): P41970, F8VUJ0, F8VZQ0, G3V1Z7, H0YIH6

UniProt curated annotations — full annotation on UniProt →

Function. May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element.

Subunit / interactions. Interacts with CTBP1.

Subcellular location. Nucleus.

Similarity. Belongs to the ETS family.

RefSeq proteins (7): NP_001400689, NP_001400690, NP_001400691, NP_001400692, NP_001400693, NP_001400694, NP_005221* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000418	Ets_dom	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR046328	ETS_fam	Family

Pfam: PF00178

UniProt features (16 total): sequence conflict 6, region of interest 2, modified residue 2, cross-link 2, chain 1, DNA-binding region 1, short sequence motif 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P41970-F1	60.79	0.25

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 (4): 115, 396, 92, 165

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 361 (showing top): AHRARNT_01, MYOGENIN_Q6, TGCACTT_MIR519C_MIR519B_MIR519A, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GGGTGGRR_PAX4_03, BILD_HRAS_ONCOGENIC_SIGNATURE, GOBP_WOUND_HEALING, GTGCCTT_MIR506, TCF4_Q5, AP1_Q4_01, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_DN, FOSTER_TOLERANT_MACROPHAGE_DN, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, FISCHER_G2_M_CELL_CYCLE

GO Biological Process (9): negative regulation of transcription by RNA polymerase II (GO:0000122), angiogenesis (GO:0001525), regulation of transcription by RNA polymerase II (GO:0006357), signal transduction (GO:0007165), cell differentiation (GO:0030154), wound healing (GO:0042060), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (10): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), purine-rich negative regulatory element binding (GO:0032422), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
regulation of DNA-templated transcription	3
DNA-templated transcription	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
transcription cis-regulatory region binding	2
cellular anatomical structure	2
intracellular membrane-bounded organelle	2
negative regulation of DNA-templated transcription	1
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cellular developmental process	1
response to wounding	1
tissue regeneration	1
positive regulation of DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
negative regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription repressor activity	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transcription regulator activity	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
DNA binding	1
chromosome	1
nuclear lumen	1
cytoplasm	1

Protein interactions and networks

STRING

334 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ELK3	KCNH8	Q96L42	870
ELK3	EGR1	P18146	414
ELK3	ELK4	P28323	381
ELK3	ZNF821	O75541	348
ELK3	MTHFSD	Q2M296	305
ELK3	SH2D4A	Q9H788	289
ELK3	ROBO4	Q8WZ75	281
ELK3	TERT	O14746	273
ELK3	SRF	P11831	272
ELK3	GALNT16	Q8N428	269
ELK3	LEF1	Q9UJU2	266
ELK3	DENND5B	Q6ZUT9	264
ELK3	JAZF1	Q86VZ6	259
ELK3	FSTL4	Q6MZW2	247
ELK3	ZNF564	Q8TBZ8	246

IntAct

32 interactions, top by confidence:

A	B	Type	Score
CRK	ELK3	psi-mi:“MI:0915”(physical association)	0.600
PIK3R1	ELK3	psi-mi:“MI:0915”(physical association)	0.570
ELK3	SP4	psi-mi:“MI:0915”(physical association)	0.560
ELK3	BPIFA1	psi-mi:“MI:0915”(physical association)	0.560
ELK3	PFDN5	psi-mi:“MI:0915”(physical association)	0.560
ELK3	LSAMP	psi-mi:“MI:0915”(physical association)	0.560
NUP58	ELK3	psi-mi:“MI:0915”(physical association)	0.560
NFIA	ELK3	psi-mi:“MI:0915”(physical association)	0.470
NFIB	ELK3	psi-mi:“MI:0915”(physical association)	0.470
ELK3	GRB2	psi-mi:“MI:0915”(physical association)	0.400
NCK1	ELK3	psi-mi:“MI:0915”(physical association)	0.400
NFIC	ELK3	psi-mi:“MI:0915”(physical association)	0.400
ELK3	CDC37	psi-mi:“MI:0915”(physical association)	0.400
ELK3	HAL	psi-mi:“MI:0914”(association)	0.350
ELK3	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
CRK	ELK3	psi-mi:“MI:0915”(physical association)	0.000
ELK3	SP4	psi-mi:“MI:0915”(physical association)	0.000
ELK3	BPIFA1	psi-mi:“MI:0915”(physical association)	0.000
ELK3	PFDN5	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (124): ELK3 (Affinity Capture-RNA), ELK3 (Two-hybrid), ELK3 (Two-hybrid), PFDN5 (Two-hybrid), BPIFA1 (Two-hybrid), TCF3 (Affinity Capture-Western), ELK3 (Affinity Capture-Western), ELK3 (Two-hybrid), ELK3 (Affinity Capture-Western), ELK3 (Affinity Capture-RNA), PIAS1 (Proximity Label-MS), CTBP1 (Proximity Label-MS), HIVEP1 (Proximity Label-MS), FOXK1 (Proximity Label-MS), RREB1 (Proximity Label-MS)

ESM2 similar proteins: A1YF15, A1YG91, A2D4Z7, A2T762, A9ZPC9, C0LZJ1, O00409, O42261, P08651, P21999, P23767, P28324, P31258, P31629, P41162, P41970, P41971, P48437, P59667, P70056, P70284, P85119, Q00900, Q12951, Q1LY77, Q28G71, Q28GC4, Q29131, Q33BP8, Q3BJS3, Q499D0, Q61602, Q6DIB4, Q8CGW4, Q8R4Z4, Q8VII8, Q90655, Q90YI8, Q90ZH8, Q91018

Diamond homologs: A0A1W2PQ73, A0JN51, A1A4L6, A1YF15, A1YG61, A1YG91, A2D4Z7, A2T737, A2T762, A3FEM2, A4GTP4, A8WFJ9, O00321, O01519, O70132, O70273, O95238, P01105, P10157, P11308, P11536, P13474, P14921, P15036, P15037, P15062, P18755, P18756, P19102, P19419, P20105, P26323, P27577, P28322, P28324, P29773, P29774, P29775, P29776, P32519

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
ELK3	“down-regulates quantity by repression”	MYH6	“transcriptional regulation”
KDM6A	“down-regulates quantity by repression”	ELK3	“transcriptional regulation”
MAPK14	up-regulates	ELK3	phosphorylation
MAPK9	“down-regulates activity”	ELK3	phosphorylation
MAPK8	“down-regulates activity”	ELK3	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	59
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2626 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:96223586:T:A	L7Q	1.000
12:96223586:T:C	L7P	1.000
12:96223588:T:A	W8R	1.000
12:96223588:T:C	W8R	1.000
12:96223589:G:C	W8S	1.000
12:96223590:G:C	W8C	1.000
12:96223590:G:T	W8C	1.000
12:96223594:T:A	F10I	1.000
12:96223594:T:C	F10L	1.000
12:96223595:T:C	F10S	1.000
12:96223595:T:G	F10C	1.000
12:96223596:C:A	F10L	1.000
12:96223596:C:G	F10L	1.000
12:96223598:T:A	L11Q	1.000
12:96223598:T:C	L11P	1.000
12:96223607:T:C	L14S	1.000
12:96223610:T:A	L15Q	1.000
12:96223610:T:C	L15P	1.000
12:96223637:T:A	I24N	1.000
12:96223637:T:C	I24T	1.000
12:96223637:T:G	I24S	1.000
12:96223642:T:A	W26R	1.000
12:96223642:T:C	W26R	1.000
12:96223643:G:C	W26S	1.000
12:96223644:G:C	W26C	1.000
12:96223644:G:T	W26C	1.000
12:96223657:G:C	G31R	1.000
12:96223658:G:A	G31D	1.000
12:96223658:G:T	G31V	1.000
12:96223663:T:C	F33L	1.000

dbSNP variants (sampled 300 via entrez): RS1000053435 (12:96236426 C>T), RS1000067311 (12:96198460 T>C), RS1000096138 (12:96268297 G>C), RS1000131164 (12:96254595 T>G), RS1000174532 (12:96216768 A>G), RS1000270190 (12:96215204 A>G), RS1000310179 (12:96252071 A>G), RS1000320951 (12:96225654 G>A,C), RS1000321320 (12:96214972 A>G), RS1000334864 (12:96249125 G>A,C), RS1000387026 (12:96264712 G>A), RS1000414769 (12:96204823 C>T), RS1000451586 (12:96218019 A>G), RS1000475529 (12:96219805 G>C), RS1000517689 (12:96260164 G>T)

Disease associations

OMIM: gene MIM:600247 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002432_6	Response to inhaled corticosteroid treatment in asthma (change in FEV1)	6.000000e-06
GCST003786_1	Small intestine neuroendocrine tumor	3.000000e-09
GCST003798_1	Acute lymphoblastic leukemia in childhood (B cell precursor)	8.000000e-09
GCST005832_10	Acute lymphoblastic leukemia in childhood (B cell precursor)	3.000000e-07
GCST009638_8	B-cell acute lymphoblastic leukaemia	4.000000e-07
GCST010653_48	Thyroid stimulating hormone levels	6.000000e-29
GCST010653_49	Thyroid stimulating hormone levels	2.000000e-11
GCST011384_1	Vaginal microbiome composition (community state type)	3.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005921	FEV change measurement
EFO:0011013	vaginal microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1741184 (SINGLE PROTEIN)

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	7
methylmercuric chloride	increases expression, affects cotreatment	4
sodium arsenite	affects methylation, affects cotreatment, increases abundance, increases expression	4
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases expression	3
Tretinoin	increases expression	3
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
(+)-JQ1 compound	decreases expression	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Estradiol	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
cupric chloride	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects cotreatment	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	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	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5373338	Binding	Inhibition of NET (unknown origin) at 49 uM relative to control	Selective and Bioavailable HDAC6 2-(Difluoromethyl)-1,3,4-oxadiazole Substrate Inhibitors and Modeling of Their Bioactivation Mechanism. — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A1I6	SEES3-1V human ELK3, clone1	Embryonic stem cell	Male
CVCL_A1I7	SEES3-1V human ELK3, clone2	Embryonic stem cell	Male
CVCL_A1I8	SEES3-1V human ELK3, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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