ELF1

Summary

ELF1 (E74 like ETS transcription factor 1, HGNC:3316) is a protein-coding gene on chromosome 13q14.11, encoding ETS-related transcription factor Elf-1 (P32519). Transcription factor that activates the LYN and BLK promoters.

This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 1997 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 97 total
• MANE Select transcript: NM_172373

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3316
Approved symbol	ELF1
Name	E74 like ETS transcription factor 1
Location	13q14.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000120690
Ensembl biotype	protein_coding
OMIM	189973
Entrez	1997

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 21 protein_coding, 1 nonsense_mediated_decay

ENST00000239882, ENST00000405737, ENST00000498824, ENST00000625359, ENST00000635415, ENST00000891312, ENST00000891313, ENST00000891314, ENST00000891315, ENST00000891316, ENST00000891317, ENST00000891318, ENST00000891319, ENST00000891320, ENST00000891321, ENST00000891322, ENST00000891323, ENST00000891324, ENST00000891325, ENST00000891326, ENST00000955689, ENST00000955690

RefSeq mRNA: 6 — MANE Select: NM_172373 NM_001145353, NM_001370329, NM_001370330, NM_001370331, NM_001370332, NM_172373

CCDS: CCDS45043, CCDS9374

Canonical transcript exons

ENST00000239882 — 9 exons

Exon	Start	End
ENSE00001481322	40931924	40934028
ENSE00001481348	41019228	41019316
ENSE00003481363	40958836	40959016
ENSE00003606490	40940921	40941370
ENSE00003613988	40949806	40949973
ENSE00003638368	40943842	40943925
ENSE00003675334	40951329	40951436
ENSE00003749140	40942952	40943144
ENSE00003785110	40981983	40982282

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 99.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.3154 / max 1717.2129, expressed in 1809 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
136941	20.1067	1181
136931	10.5779	574
136952	6.3075	1699
136949	3.1692	1323
136946	2.2741	917
136947	1.1886	643
136948	0.8850	524
136939	0.5549	183
136942	0.5378	255
136951	0.5191	254

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.23	gold quality
monocyte	CL:0000576	96.83	gold quality
mononuclear cell	CL:0000842	96.81	gold quality
leukocyte	CL:0000738	96.72	gold quality
lymph node	UBERON:0000029	96.61	gold quality
bone marrow cell	CL:0002092	96.51	gold quality
calcaneal tendon	UBERON:0003701	96.37	gold quality
bone marrow	UBERON:0002371	96.09	gold quality
nipple	UBERON:0002030	96.08	gold quality
vermiform appendix	UBERON:0001154	95.97	gold quality
gall bladder	UBERON:0002110	95.94	gold quality
caecum	UBERON:0001153	95.52	gold quality
pharyngeal mucosa	UBERON:0000355	95.34	gold quality
urethra	UBERON:0000057	95.30	gold quality
rectum	UBERON:0001052	95.21	gold quality
pericardium	UBERON:0002407	95.16	gold quality
penis	UBERON:0000989	94.81	gold quality
blood	UBERON:0000178	94.76	gold quality
islet of Langerhans	UBERON:0000006	94.66	gold quality
thymus	UBERON:0002370	94.61	gold quality
synovial joint	UBERON:0002217	94.59	gold quality
parietal pleura	UBERON:0002400	94.47	gold quality
duodenum	UBERON:0002114	94.46	gold quality
tonsil	UBERON:0002372	94.31	gold quality
pylorus	UBERON:0001166	94.16	gold quality
right lung	UBERON:0002167	94.09	gold quality
mammary duct	UBERON:0001765	94.07	gold quality
colonic epithelium	UBERON:0000397	93.99	gold quality
superficial temporal artery	UBERON:0001614	93.99	gold quality
jejunal mucosa	UBERON:0000399	93.96	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	27.04
E-HCAD-10	yes	17.96
E-MTAB-9388	yes	14.12
E-CURD-112	yes	10.97
E-MTAB-6701	yes	10.37
E-MTAB-10042	yes	8.47
E-GEOD-130148	yes	6.94
E-GEOD-106540	no	865.13
E-MTAB-6075	no	532.42
E-HCAD-4	no	31.07
E-CURD-46	no	24.07
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA0473.1	ELF1	Ets-related
MA0473.2	ELF1	Ets-related
MA0473.3	ELF1	Ets-related
MA0473.4	ELF1	Ets-related
MA1952.1	FOXJ2::ELF1	FOX::Ets-related
MA1952.2	FOXJ2::ELF1	FOX::Ets-related
MA1953.1	FOXO1::ELF1	FOX::Ets-related
MA1953.2	FOXO1::ELF1	FOX::Ets-related

JASPAR matrix evidence (PMIDs): PMID:20517297, PMID:8756667, PMID:31913281

miRNA regulators (miRDB)

108 targeting ELF1, 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-656-3P	100.00	72.15	2788
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-1236-3P	99.94	68.04	1695
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

Literature-anchored findings (GeneRIF, showing 23)

• Includes a comparison of MEF to ELF1. (PMID:10207087)
• transcriptional regulation of the LAT gene, including the discovery that the Ets transcription factor Elf-1 may play a central role in its expression (PMID:16464244)
• These results provide new evidence that Elf-1 is involved in transcriptional activation of hPygo2. (PMID:18314487)
• Elf-1 in combination with Sp1 and GABP reduced FcRgamma promoter activity. (PMID:18378679)
• aberrantly increased PP2A in lupus T cells dephosphorylates Elf-1 at Thr-231, resulting in limited expression and binding of the 98 kDa Elf-1 form to the CD3zeta and FcRgamma promoters. (PMID:18714041)
• The expression levels of both Elf-1 and VEGF were significantly related with tumor differentiation, lymphatic metastasis, clinical stage, and postoperative survival time in non-small cell lung cancer. (PMID:19624906)
• Data show that VEGFR1 promoter binding sites for ELF-1, CREB and EGR-1/3 play a positive role in gene transcription in endothelial cells. (PMID:19822898)
• The expression of Elf-1 and survivin in non-small cell lung cancer is related to differentiation, lymphatic metastasis, clinical stage, and prognosis, and both are positively correlated with microvessel density. (PMID:20346215)
• ETS transcription factor ELF1 is an important positive regulator of MEIS1 expression (PMID:20600580)
• through a genome-wide association in a Hong Kong Chinese cohort and replication in 2 other Asian populations, identified association of ELF1 with systemic lupus erythematosus (PMID:21044949)
• Data suggest that Elf-1 may modulate breast cancer progression to some extent without having an impact on survival of breast cancer patients. (PMID:21811762)
• the results indicate that insufficient O-GlcNAc modification prevents Elf-1-mediated transcriptional repression and thereby upregulates Tollip gene expression in intestinal epithelial cells. (PMID:21867680)
• Expression of FLI-1, ELF-1, and GABP activated the PF4 promoter in HepG2 cells. (PMID:21931859)
• ELF1 binding occurs at both TERT promoter mutations in melanoma in vitro such that increased recruitment of GABP is enabled by the spatial architecture of native and novel ETS motifs in the TERT promoter region. (PMID:26553150)
• ELF-1 binds an important duplicated GGAA cis-acting element at the OAS1 promoter and in cooperation with RB1 and SP1 recruitment contributes to regulation in response to IFN stimulation. (PMID:26643049)
• We demonstrate that expression of ELF1 is impaired in cHL through genetic and epigenetic alterations, and thus, it may represent an additional member of a TF network whose downregulation contributes to the loss of B-cell phenotype of HRS cells. (PMID:30681722)
• ELF1-mediated LUCAT1 promotes choroidal melanoma by modulating RBX1 expression. (PMID:31968402)
• ELF1 activated long non-coding RNA CASC2 inhibits cisplatin resistance of non-small cell lung cancer via the miR-18a/IRF-2 signaling pathway. (PMID:32271431)
• Transcriptomic Analysis of Naive Human Embryonic Stem Cells Cultured in Three-Dimensional PEG Scaffolds. (PMID:33379237)
• ELF1 Transcription Factor Enhances the Progression of Glioma via ATF5 promoter. (PMID:33720698)
• Transcription Factor ELF1 Modulates Cisplatin Sensitivity in Prostate Cancer by Targeting MEIS Homeobox 2. (PMID:36763086)
• ELF1 suppresses autophagy to reduce cisplatin resistance via the miR-152-3p/NCAM1/ERK axis in lung cancer cells. (PMID:36846943)
• ELF1/PRR11/ARP2/3 promoted trophoblast cells proliferation and motility in early pregnancy. (PMID:37641376)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Elf1	ENSMUSG00000036461
rattus_norvegicus	Elf1	ENSRNOG00000011762

Paralogs (28): ETV1 (ENSG00000006468), ETV7 (ENSG00000010030), SPI1 (ENSG00000066336), ELF4 (ENSG00000102034), ETV2 (ENSG00000105672), ERF (ENSG00000105722), ELF2 (ENSG00000109381), ELK3 (ENSG00000111145), ETV3 (ENSG00000117036), 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-related transcription factor Elf-1 — P32519 (reviewed: P32519)

Alternative names: E74-like factor 1

All UniProt accessions (4): A0A0D9SG85, A0A0U1RRL5, P32519, Q5T9E7

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer.

Subunit / interactions. Binds to the underphosphorylated form of RB. May interact with other transcription factors in order to regulate specific genes. Interacts with RUNX1.

Subcellular location. Nucleus.

Tissue specificity. In fetal tissues, it is highly expressed in heart, lung liver and kidney, and weakly expressed in brain. In adult, it is highly expressed in pancreas, spleen, thymus and peripheral blood leukocytes, expressed at moderate levels in heart, placenta, lung, liver, skeletal muscle, kidney, prostate, ovary, small intestine and colon, and weakly expressed in brain and testis.

Similarity. Belongs to the ETS family.

Isoforms (2)

UniProt ID	Names	Canonical?
P32519-1	1	yes
P32519-2	2

RefSeq proteins (6): NP_001138825, NP_001357258, NP_001357259, NP_001357260, NP_001357261, NP_758961* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000418	Ets_dom	Domain
IPR022084	TF_Elf_N	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR046328	ETS_fam	Family

Pfam: PF00178, PF12310

UniProt features (29 total): modified residue 7, helix 5, compositionally biased region 4, sequence variant 3, region of interest 3, strand 3, chain 1, DNA-binding region 1, splice variant 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8BZM	X-RAY DIFFRACTION	2.69

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P32519-F1	53.55	0.13

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 (7): 163, 167, 168, 187, 190, 432, 110

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8939245	RUNX1 regulates transcription of genes involved in BCR signaling
R-HSA-8939247	RUNX1 regulates transcription of genes involved in interleukin signaling

MSigDB gene sets: 0 (showing top):

GO Biological Process (7): regulation of cytokine production (GO:0001817), regulation of transcription by RNA polymerase II (GO:0006357), cell differentiation (GO:0030154), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of T cell receptor signaling pathway (GO:0050860), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (8): 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 activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), 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 (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Transcriptional regulation by RUNX1	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of gene expression	2
transcription by RNA polymerase II	2
DNA-templated transcription	2
regulation of transcription by RNA polymerase II	2
cellular anatomical structure	2
cytokine production	1
regulation of multicellular organismal process	1
cellular developmental process	1
positive regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
T cell receptor signaling pathway	1
regulation of T cell receptor signaling pathway	1
negative regulation of antigen receptor-mediated signaling pathway	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transcription cis-regulatory region binding	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
intracellular membrane-bounded organelle	1
nuclear lumen	1

Protein interactions and networks

STRING

852 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ELF1	EFNA5	P52803	667
ELF1	GABPA	Q06546	635
ELF1	FOXP3	Q9BZS1	452
ELF1	PRKCB	P05127	394
ELF1	BLZF1	Q9H2G9	351
ELF1	BACH1	O14867	342
ELF1	GUF1	Q8N442	342
ELF1	ETS1	P14921	337
ELF1	WDR64	B1ANS9	317
ELF1	MRPL19	P49406	309
ELF1	EEF1D	P29692	298
ELF1	LRRC30	A6NM36	297
ELF1	ZCCHC3	Q9NUD5	297
ELF1	ATE1	O95260	296
ELF1	EIF2B1	Q14232	295

IntAct

42 interactions, top by confidence:

A	B	Type	Score
ELF1	HSPBP1	psi-mi:“MI:0915”(physical association)	0.560
ELF1	NFYC	psi-mi:“MI:0915”(physical association)	0.560
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
HOXC13	ELF1	psi-mi:“MI:0915”(physical association)	0.520
ELF1	HOXC13	psi-mi:“MI:0915”(physical association)	0.520
SP1	ELF1	psi-mi:“MI:0915”(physical association)	0.510
ELF1	SP1	psi-mi:“MI:0915”(physical association)	0.510
ELF1	HNRNPUL1	psi-mi:“MI:0915”(physical association)	0.400
ELF1	E7	psi-mi:“MI:0915”(physical association)	0.370
ELF1		psi-mi:“MI:0915”(physical association)	0.370
NFE2L2	ELF1	psi-mi:“MI:0915”(physical association)	0.370
	POLRMT	psi-mi:“MI:0914”(association)	0.350
ARL2BP	GNPAT	psi-mi:“MI:0914”(association)	0.350
KLHL6	ELF1	psi-mi:“MI:0914”(association)	0.350
HSPBP1	HGS	psi-mi:“MI:0914”(association)	0.350
	POLR3A	psi-mi:“MI:0914”(association)	0.350
BCL6	CACNA1A	psi-mi:“MI:0914”(association)	0.350
ELF1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
ELF2	SETD1A	psi-mi:“MI:2364”(proximity)	0.270
FEV	TAF4	psi-mi:“MI:2364”(proximity)	0.270
KLF16	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
KLF3	MCRIP1	psi-mi:“MI:2364”(proximity)	0.270
KLF8	USP27X	psi-mi:“MI:2364”(proximity)	0.270
NFIX	TAF4	psi-mi:“MI:2364”(proximity)	0.270
TLK2	PES1	psi-mi:“MI:2364”(proximity)	0.270
GPKOW	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
HNRNPC	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
RBM15	ILVBL	psi-mi:“MI:2364”(proximity)	0.270
NPM1	SBNO1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (129): ELF1 (Reconstituted Complex), HSPBP1 (Affinity Capture-MS), ELF1 (Affinity Capture-RNA), ELF1 (Proximity Label-MS), ELF1 (Two-hybrid), ELF1 (Reconstituted Complex), NFKB1 (Reconstituted Complex), REL (Reconstituted Complex), NFKB1 (Reconstituted Complex), ELF1 (Affinity Capture-MS), ELF1 (Reconstituted Complex), ELF1 (Proximity Label-MS), ELF1 (Two-hybrid), ELF1 (Affinity Capture-MS), ELF1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8GSA2, A0A1L8H0H2, A0JN51, A0JP82, A2AWL7, A2BGM5, A2RRX6, F8VPJ6, K9JHZ4, O13186, O46567, O54826, O89091, P04150, P08235, P15822, P22199, P32519, P36197, P37275, P48552, P55197, P59759, P79269, P79686, Q29131, Q2KHR2, Q3YC04, Q4JM28, Q5R9P5, Q60775, Q61321, Q62947, Q64318, Q68DE3, Q6XLJ0, Q8AYC1, Q8AYC2, Q8BMA5, Q8IZQ8

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

5 interactions.

A	Effect	B	Mechanism
ELF1	“up-regulates quantity by expression”	IL2RA	“transcriptional regulation”
PPP2CB	“down-regulates activity”	ELF1	dephosphorylation
PPP2CA	“down-regulates activity”	ELF1	dephosphorylation
ELF1	“down-regulates quantity by repression”	FCER1A	“transcriptional regulation”
ELF1	“up-regulates quantity by expression”	CD68	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	82
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

4035 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:40941310:A:C	F289L	1.000
13:40941310:A:T	F289L	1.000
13:40941311:A:C	F289C	1.000
13:40941311:A:G	F289S	1.000
13:40941312:A:C	F289V	1.000
13:40941312:A:G	F289L	1.000
13:40941314:T:G	Q288P	1.000
13:40941318:A:C	Y287D	1.000
13:40941318:A:G	Y287H	1.000
13:40941318:A:T	Y287N	1.000
13:40941323:A:G	L285S	1.000
13:40941327:G:A	R284C	1.000
13:40941327:G:C	R284G	1.000
13:40941327:G:T	R284S	1.000
13:40941332:C:A	G282V	1.000
13:40941333:C:G	G282R	1.000
13:40941340:T:A	K279N	1.000
13:40941340:T:G	K279N	1.000
13:40941341:T:A	K279I	1.000
13:40941342:T:C	K279E	1.000
13:40941345:C:G	A278P	1.000
13:40941347:A:C	L277R	1.000
13:40941347:A:G	L277P	1.000
13:40941347:A:T	L277Q	1.000
13:40941350:A:C	I276S	1.000
13:40941350:A:G	I276T	1.000
13:40941350:A:T	I276N	1.000
13:40941353:C:A	G275V	1.000
13:40941355:C:A	R274S	1.000
13:40941355:C:G	R274S	1.000

dbSNP variants (sampled 300 via entrez): RS1000010532 (13:41034608 TAA>T), RS1000031246 (13:41058727 C>A), RS1000037688 (13:40966715 A>T), RS1000038690 (13:40946570 C>T), RS1000039882 (13:41015262 G>A), RS1000137284 (13:41032890 T>C), RS1000153697 (13:40976944 T>C,G), RS1000213153 (13:41062587 G>A,C,T), RS1000222635 (13:40997043 C>A,T), RS1000242875 (13:41062349 T>A,C), RS1000253514 (13:40973850 G>A), RS1000263315 (13:41007614 C>T), RS1000270623 (13:40959899 C>A), RS1000307909 (13:41045435 A>C), RS1000341320 (13:41002816 G>A)

Disease associations

OMIM: gene MIM:189973 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000858_1	Systemic lupus erythematosus	1.000000e-08
GCST001785_3	Crohn’s disease	8.000000e-09
GCST001795_28	Systemic lupus erythematosus	6.000000e-06
GCST003622_59	Systemic lupus erythematosus	3.000000e-06
GCST004627_147	Lymphocyte count	2.000000e-13
GCST004632_36	Lymphocyte percentage of white cells	8.000000e-13
GCST004633_30	Neutrophil percentage of white cells	7.000000e-12
GCST004833_6	Cervical cancer	2.000000e-07
GCST006614_74	Total cholesterol levels	3.000000e-12
GCST008839_265	Height	1.000000e-14
GCST011956_142	Systemic lupus erythematosus	7.000000e-22
GCST90002382_206	Eosinophil percentage of white cells	1.000000e-10
GCST90002388_445	Lymphocyte count	6.000000e-27
GCST90002389_473	Lymphocyte percentage of white cells	3.000000e-28
GCST90002390_189	Mean corpuscular hemoglobin	3.000000e-15
GCST90002392_410	Mean corpuscular volume	1.000000e-14
GCST90002396_549	Mean reticulocyte volume	4.000000e-12
GCST90002397_58	Mean spheric corpuscular volume	1.000000e-10
GCST90002399_346	Neutrophil percentage of white cells	2.000000e-22
GCST90002400_118	Plateletcrit	4.000000e-19
GCST90002402_212	Platelet count	2.000000e-15
GCST90013406_274	Liver enzyme levels (alkaline phosphatase)	1.000000e-24
GCST90013442_21	Keratoconus	6.000000e-35
GCST90013663_59	Alanine aminotransferase levels	1.000000e-09
GCST90013664_89	Aspartate aminotransferase levels	2.000000e-15
GCST90016667_35	Spleen volume	9.000000e-09

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004587	lymphocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0004574	total cholesterol measurement
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004527	mean corpuscular hemoglobin
EFO:0010701	mean reticulocyte volume
EFO:0007985	platelet crit
EFO:0004309	platelet count
EFO:0004533	alkaline phosphatase measurement
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	4
trichostatin A	affects cotreatment, increases expression	3
Panobinostat	affects cotreatment, increases expression	2
Estradiol	affects expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tretinoin	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
testosterone enanthate	affects expression	1
methylmercuric chloride	increases expression	1
geraniol	increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
manganese chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	increases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
clothianidin	increases expression	1
torcetrapib	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	affects methylation	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1

Cellosaurus cell lines

5 cell lines: 3 embryonic stem cell, 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A1G6	SEES3-1V human ELF1, clone1	Embryonic stem cell	Male
CVCL_A1G7	SEES3-1V human ELF1, clone2	Embryonic stem cell	Male
CVCL_A1G8	SEES3-1V human ELF1, clone3	Embryonic stem cell	Male
CVCL_GZ81	K562 eGFP-ELF1	Cancer cell line	Female
CVCL_HA13	MCF-7 eGFP-ELF1	Cancer cell line	Female

Clinical trials (associated diseases)

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