ELL2

Summary

ELL2 (elongation factor for RNA polymerase II 2, HGNC:17064) is a protein-coding gene on chromosome 5q15, encoding RNA polymerase II elongation factor ELL2 (O00472). Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA.

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in snRNA transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription elongation factor complex.

Source: NCBI Gene 22936 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 76 total
• MANE Select transcript: NM_012081

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17064
Approved symbol	ELL2
Name	elongation factor for RNA polymerase II 2
Location	5q15
Locus type	gene with protein product
Status	Approved
Aliases	MRCCAT1
Ensembl gene	ENSG00000118985
Ensembl biotype	protein_coding
OMIM	601874
Entrez	22936

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000237853, ENST00000505584, ENST00000506628, ENST00000508694, ENST00000508757, ENST00000513343, ENST00000515020, ENST00000635633, ENST00000944926, ENST00000944927

RefSeq mRNA: 1 — MANE Select: NM_012081 NM_012081

CCDS: CCDS4080

Canonical transcript exons

ENST00000237853 — 12 exons

Exon	Start	End
ENSE00000972117	95913771	95913934
ENSE00000972121	95898240	95898810
ENSE00000972122	95895628	95895691
ENSE00000972123	95891103	95891274
ENSE00000972124	95889086	95889130
ENSE00001250185	95961575	95961851
ENSE00001889032	95885098	95888987
ENSE00002285219	95900693	95900780
ENSE00002292660	95900956	95901080
ENSE00002304067	95906523	95906782
ENSE00003511442	95943002	95943049
ENSE00003540917	95919424	95919545

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 99.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.3093 / max 364.0518, expressed in 1708 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62670	16.0738	1662
62668	1.4566	740
62669	0.9265	424
62672	0.3907	204
62662	0.1857	80
62671	0.1467	40
62673	0.0959	36
62667	0.0335	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	99.15	gold quality
mucosa of paranasal sinus	UBERON:0005030	98.25	gold quality
cartilage tissue	UBERON:0002418	98.17	gold quality
calcaneal tendon	UBERON:0003701	97.83	gold quality
islet of Langerhans	UBERON:0000006	97.79	gold quality
epithelial cell of pancreas	CL:0000083	97.73	gold quality
gingiva	UBERON:0001828	97.57	gold quality
oral cavity	UBERON:0000167	97.34	gold quality
gingival epithelium	UBERON:0001949	97.28	gold quality
lower lobe of lung	UBERON:0008949	97.06	gold quality
popliteal artery	UBERON:0002250	97.05	gold quality
tibial artery	UBERON:0007610	97.04	gold quality
stromal cell of endometrium	CL:0002255	96.97	gold quality
pancreas	UBERON:0001264	96.89	gold quality
bone marrow cell	CL:0002092	96.79	gold quality
body of pancreas	UBERON:0001150	96.77	gold quality
artery	UBERON:0001637	96.75	gold quality
saliva-secreting gland	UBERON:0001044	96.37	gold quality
esophagus mucosa	UBERON:0002469	96.32	gold quality
nasal cavity epithelium	UBERON:0005384	96.31	gold quality
penis	UBERON:0000989	96.26	gold quality
aorta	UBERON:0000947	96.25	gold quality
lower esophagus mucosa	UBERON:0035834	96.13	gold quality
middle temporal gyrus	UBERON:0002771	96.07	gold quality
mouth mucosa	UBERON:0003729	96.07	gold quality
esophagus squamous epithelium	UBERON:0006920	95.99	gold quality
pylorus	UBERON:0001166	95.96	gold quality
cardia of stomach	UBERON:0001162	95.81	gold quality
descending thoracic aorta	UBERON:0002345	95.80	gold quality
minor salivary gland	UBERON:0001830	95.79	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-GEOD-83139	yes	1664.14
E-ENAD-27	yes	1311.78
E-GEOD-81608	yes	1221.01
E-GEOD-150728	yes	952.36
E-MTAB-5061	yes	530.60
E-MTAB-6386	yes	53.90
E-CURD-122	yes	49.24
E-MTAB-9467	yes	46.04
E-HCAD-31	yes	26.05
E-GEOD-81547	yes	23.49
E-CURD-46	yes	21.85
E-MTAB-9543	yes	11.67
E-CURD-112	no	341.79
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): KMT2A

miRNA regulators (miRDB)

271 targeting ELL2, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3613-3P	100.00	76.36	7965
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-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955

Literature-anchored findings (GeneRIF, showing 16)

• ELL2 addition regulates mRNA processing by enhancing poly(A) site choice and exon splice-site skipping (PMID:19749764)
• Prostratin and HMBA, two well-studied activators of HIV transcription and latency, enhance ELL2 accumulation and SECs formation largely through decreasing Siah1 expression and ELL2 polyubiquitination. (PMID:22483617)
• Tax transactivates the ELL2 promoter in HTLV-1-infected T-cells. (PMID:25058508)
• Loss of ELL2 in B cells results in decreased Igh secretory mRNA and decreased expression of Ig light chain plus genes involved in the unfolded protein response like XBP1, ATF6, BiP, cyclin B2, OcaB (BOB1, Pou2af1). (PMID:25238757)
• multiple myeloma risk allele harbours a Thr298Ala missense variant in an ELL2 domain required for transcription elongation (PMID:26007630)
• Study reports the 2.0-A resolution crystal structure of the human ELL2 C-terminal domain bound to its 50-residue binding site on AFF4, the ELLBow. The ELLBow consists of an N-terminal helix followed by an extended hairpin and occupies most of the concave surface of ELL2. This surface is important for the ability of ELL2 to promote HIV-1 Tat-mediated proviral transcription. (PMID:28134250)
• Results provide the first evidence that ELL2 is a direct target of miR-299 and increased ELL2 expression and down-regulation of miR-299 are associated with GBM progression and poor prognosis in patients. (PMID:28531325)
• Selective expression of the transcription elongation factor ELL3 in B cells prior to ELL2 drives proliferation and survival (PMID:28858629)
• These results suggest that ELL2 and its pathway genes likely play an important role in the development and progression of prostate cancer. (PMID:28870994)
• expression is consistent with inherited genetic variation contributing to arrest of plasma cell development, facilitating multiple myeloma clonal expansion. (PMID:28903037)
• Knockdown of RNA polymerase II elongation factor ELL2 (ELL2) sensitized prostate cancer cells to DNA damage and overexpression of ELL2 protected prostate cancer cells from DNA damage. (PMID:29179998)
• Study in CD138+ plasma cells from 1630 multiple myeloma (MM) patients show that the MM risk allele at 5q15 lowers ELL2 expression in these cells, but not in peripheral blood or other tissues. (PMID:29695719)
• ELL2 protein was downregulated in prostate cancer specimens and was up-regulated by androgens in prostate cancer cell lines LNCaP and C4-2. ELL2 knockdown enhanced prostate cancer cell proliferation and motility. (PMID:30009504)
• MRCCAT1 is upregulated in glioma, predicting poor outcome for patients. MRCCAT1 promotes glioma cell proliferation and migration by activating p38-MAPK signaling. (PMID:30556882)
• Allosteric transcription stimulation by RNA polymerase II super elongation complex. (PMID:34265249)
• Characterizing the Interaction between the HTLV-1 Transactivator Tax-1 with Transcription Elongation Factor ELL2 and Its Impact on Viral Transactivation. (PMID:34948391)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ell2	ENSDARG00000006251
mus_musculus	Ell2	ENSMUSG00000001542
rattus_norvegicus	Ell2	ENSRNOG00000027089
drosophila_melanogaster	Su(Tpl)	FBGN0014037
caenorhabditis_elegans		WBGENE00021281

Paralogs (5): OCEL1 (ENSG00000099330), ELL (ENSG00000105656), ELL3 (ENSG00000128886), MARVELD2 (ENSG00000152939), OCLN (ENSG00000197822)

Protein

Protein identifiers

RNA polymerase II elongation factor ELL2 — O00472 (reviewed: O00472)

All UniProt accessions (4): A0A0U1RR08, D6RC27, O00472, H0Y8G1

UniProt curated annotations — full annotation on UniProt →

Function. Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression.

Subunit / interactions. Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts with AFF4; the interaction is direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination. Interacts with EAF1 and EAF2.

Subcellular location. Nucleus.

Post-translational modifications. Ubiquitinated by SIAH1, leading to its degradation by the proteasome. Interaction with AFF4 stabilizes ELL2 and prevents ELL2 ubiquitination.

Similarity. Belongs to the ELL/occludin family.

Isoforms (2)

UniProt ID	Names	Canonical?
O00472-1	1	yes
O00472-2	2

RefSeq proteins (1): NP_036213* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010844	Occludin_ELL	Domain
IPR019464	ELL_N	Domain
IPR031176	ELL/occludin	Family
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR042065	E3_ELL-like	Homologous_superfamily

Pfam: PF07303, PF10390

UniProt features (37 total): helix 11, strand 8, compositionally biased region 6, turn 3, region of interest 3, modified residue 2, chain 1, domain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
5JW9	X-RAY DIFFRACTION	2
7OKX	ELECTRON MICROSCOPY	3.3
7OKY	ELECTRON MICROSCOPY	4.14
2E5N	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00472-F1	66.83	0.29

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): 503, 580

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6807505	RNA polymerase II transcribes snRNA genes

MSigDB gene sets: 495 (showing top): DORN_ADENOVIRUS_INFECTION_12HR_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, MENSE_HYPOXIA_UP, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, CREBP1_Q2, TAL1ALPHAE47_01, GOLDRATH_ANTIGEN_RESPONSE, SHAFFER_IRF4_TARGETS_IN_PLASMA_CELL_VS_MATURE_B_LYMPHOCYTE, CATTTCA_MIR203, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, FOSTER_TOLERANT_MACROPHAGE_DN, ATF1_Q6, WANG_RECURRENT_LIVER_CANCER_DN, MORF_IL4, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5

GO Biological Process (3): transcription elongation by RNA polymerase II (GO:0006368), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), snRNA transcription by RNA polymerase II (GO:0042795)

GO Molecular Function (2): cis-regulatory region sequence-specific DNA binding (GO:0000987), protein binding (GO:0005515)

GO Cellular Component (3): nucleoplasm (GO:0005654), transcription elongation factor complex (GO:0008023), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
DNA-templated transcription elongation	1
transcription elongation by RNA polymerase II	1
positive regulation of DNA-templated transcription, elongation	1
regulation of transcription elongation by RNA polymerase II	1
positive regulation of transcription by RNA polymerase II	1
snRNA transcription	1
transcription cis-regulatory region binding	1
binding	1
nuclear lumen	1
cellular anatomical structure	1
nucleoplasm	1
nuclear protein-containing complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

858 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ELL2	AFF1	P51825	997
ELL2	AFF4	Q9UHB7	997
ELL2	MLLT1	Q03111	995
ELL2	MLLT3	P42568	993
ELL2	EAF1	Q96JC9	947
ELL2	CCNT1	O60563	933
ELL2	CCNT2	O60583	822
ELL2	CDK9	P50750	808
ELL2	LARP7	Q4G0J3	741
ELL2	ELL	P55199	734
ELL2	CSTF2	P33240	637
ELL2	HEXIM1	O94992	633
ELL2	MEPCE	Q7L2J0	609
ELL2	ELL3	Q9HB65	604
ELL2	EAF2	Q96CJ1	553

IntAct

108 interactions, top by confidence:

A	B	Type	Score
MED10	MED19	psi-mi:“MI:0914”(association)	0.910
EAF1	ELL2	psi-mi:“MI:0914”(association)	0.840
ELL2	EAF1	psi-mi:“MI:0915”(physical association)	0.840
AFF4	ELL2	psi-mi:“MI:0914”(association)	0.730
MED19	MED19	psi-mi:“MI:0914”(association)	0.730
MED26	MED19	psi-mi:“MI:0914”(association)	0.730
MLLT1	ELL2	psi-mi:“MI:0914”(association)	0.640
ELL2	PRKAB2	psi-mi:“MI:0915”(physical association)	0.560
ELL2	EXOC8	psi-mi:“MI:0915”(physical association)	0.560
ELL2	AFF4	psi-mi:“MI:0915”(physical association)	0.560
ADRB2	ELL2	psi-mi:“MI:0915”(physical association)	0.560
ELL2	APBB2	psi-mi:“MI:0915”(physical association)	0.560
CASP6	ELL2	psi-mi:“MI:0915”(physical association)	0.560
CHAT	ELL2	psi-mi:“MI:0915”(physical association)	0.560
	ELL2	psi-mi:“MI:0915”(physical association)	0.560
FGFR3	ELL2	psi-mi:“MI:0915”(physical association)	0.560
FLNA	ELL2	psi-mi:“MI:0915”(physical association)	0.560
GRIN2C	ELL2	psi-mi:“MI:0915”(physical association)	0.560
ELL2	GSN	psi-mi:“MI:0915”(physical association)	0.560
HMOX2	ELL2	psi-mi:“MI:0915”(physical association)	0.560
LAMP2	ELL2	psi-mi:“MI:0915”(physical association)	0.560
PSEN2	ELL2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (69): ELL2 (Affinity Capture-MS), ELL2 (Affinity Capture-MS), MLLT1 (Affinity Capture-MS), AFF1 (Affinity Capture-MS), MLLT3 (Affinity Capture-MS), SLC4A2 (Affinity Capture-MS), TIA1 (Affinity Capture-MS), AFG3L2 (Affinity Capture-MS), ELL2 (Affinity Capture-MS), ELL2 (Affinity Capture-MS), ELL2 (Affinity Capture-MS), EFR3A (Affinity Capture-MS), NBEAL2 (Affinity Capture-MS), AFF4 (Affinity Capture-MS), ESYT2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8GR68, A2A791, B2GUN4, E1BP74, E1BZ85, F1QLG5, F7AQ22, O00472, O15164, O15550, O70546, O88974, O95789, P49140, P55265, P70365, Q14202, Q14596, Q15047, Q15788, Q4PJW2, Q5R413, Q5RC94, Q5RDJ2, Q5VZL5, Q64127, Q69Z66, Q6H8Q1, Q6KC51, Q6NXK2, Q6P3Y5, Q6PFK1, Q7Z3K3, Q8BJ34, Q8BL65, Q8BZH4, Q8CHY6, Q8IZD4, Q8TEW8, Q8VIG2

Diamond homologs: F1MGG3, O00472, O08856, P55199, Q0IHQ3, Q3UKU1, Q3UZP0, Q5XFX8, Q80VR2, Q8N4S9, Q9HB65, Q9VW51, Q28793, Q91049, Q6P6T5, Q9H607, Q9PUN1, Q8VCR9, Q16625, Q28269, Q5RFS5, Q61146

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 47 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
Formation of RNA Pol II elongation complex	8	41.9×	1e-09
RNA Polymerase II Transcription Elongation	8	41.9×	1e-09
RNA Polymerase II Pre-transcription Events	8	29.8×	1e-08
Transcriptional Regulation by TP53	5	8.4×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	5	36.7×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2275 predictions. Top by Δscore:

Variant	Effect	Δscore
5:95888838:A:C	donor_gain	1.0000
5:95888848:CAT:C	donor_gain	1.0000
5:95888983:CTAGA:C	acceptor_gain	1.0000
5:95891271:TTTT:T	acceptor_gain	1.0000
5:95891272:TTT:T	acceptor_gain	1.0000
5:95891274:TC:T	acceptor_loss	1.0000
5:95891275:C:CC	acceptor_gain	1.0000
5:95891275:C:CG	acceptor_loss	1.0000
5:95895626:A:AC	donor_gain	1.0000
5:95895627:C:CC	donor_gain	1.0000
5:95895627:CAT:C	donor_gain	1.0000
5:95895689:CTC:C	acceptor_gain	1.0000
5:95895691:CCT:C	acceptor_loss	1.0000
5:95895692:C:CC	acceptor_gain	1.0000
5:95895692:C:G	acceptor_loss	1.0000
5:95898241:T:TA	donor_gain	1.0000
5:95898811:C:CC	acceptor_gain	1.0000
5:95900236:CAAT:C	acceptor_gain	1.0000
5:95900239:T:TC	acceptor_gain	1.0000
5:95900688:CATA:C	donor_loss	1.0000
5:95900689:ATAC:A	donor_loss	1.0000
5:95900690:TACC:T	donor_loss	1.0000
5:95900691:A:C	donor_loss	1.0000
5:95900692:C:CA	donor_loss	1.0000
5:95900776:GTTTT:G	acceptor_gain	1.0000
5:95900777:TTTT:T	acceptor_gain	1.0000
5:95900778:TTT:T	acceptor_gain	1.0000
5:95900779:TT:T	acceptor_gain	1.0000
5:95900781:C:A	acceptor_loss	1.0000
5:95900781:C:CC	acceptor_gain	1.0000

AlphaMissense

4193 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:95888932:A:G	L621P	1.000
5:95888934:C:A	K620N	1.000
5:95888934:C:G	K620N	1.000
5:95888944:A:G	L617P	1.000
5:95891220:G:C	F548L	1.000
5:95891220:G:T	F548L	1.000
5:95891221:A:G	F548S	1.000
5:95891222:A:G	F548L	1.000
5:95901008:A:G	W272R	1.000
5:95901008:A:T	W272R	1.000
5:95888919:T:A	K625N	0.999
5:95888919:T:G	K625N	0.999
5:95888920:T:A	K625I	0.999
5:95888932:A:T	L621Q	0.999
5:95888936:T:C	K620E	0.999
5:95888942:G:C	H618D	0.999
5:95891201:A:G	Y555H	0.999
5:95891221:A:C	F548C	0.999
5:95891242:C:G	R541P	0.999
5:95901006:C:A	W272C	0.999
5:95901006:C:G	W272C	0.999
5:95901076:G:T	A249D	0.999
5:95901077:C:G	A249P	0.999
5:95906530:A:G	L245P	0.999
5:95906581:A:G	L228P	0.999
5:95906620:G:T	A215D	0.999
5:95906623:A:G	L214P	0.999
5:95906623:A:T	L214Q	0.999
5:95906637:C:A	R209S	0.999
5:95906637:C:G	R209S	0.999

dbSNP variants (sampled 300 via entrez): RS1000092976 (5:95906607 G>A), RS1000110578 (5:95930628 AAAGT>A), RS1000138422 (5:95920533 A>T), RS1000162146 (5:95885285 C>A,T), RS1000247220 (5:95937820 T>C,G), RS1000282292 (5:95962134 G>T), RS1000310846 (5:95928112 A>C,G), RS1000359172 (5:95944949 T>G), RS1000369453 (5:95961576 T>C), RS1000425523 (5:95884934 G>C,T), RS1000508818 (5:95920869 A>G), RS1000543237 (5:95948494 T>C,G), RS1000737835 (5:95935997 C>A), RS1000834402 (5:95944668 T>A), RS1000890169 (5:95934721 C>G,T)

Disease associations

OMIM: gene MIM:601874 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST001698_8	Serum total protein levels	1.000000e-08
GCST002921_1	Multiple myeloma	1.000000e-09
GCST002922_1	Multiple myeloma and monoclonal gammopathy	2.000000e-10
GCST004099_10	B-cell malignancies (chronic lymphocytic leukemia, Hodgkin lymphoma or multiple myeloma) (pleiotropy)	4.000000e-07
GCST004926_1	IgG digalactosylation phenotypes (multivariate analysis)	2.000000e-09
GCST004930_6	IgG sialylation phenotypes (multivariate analysis)	5.000000e-10
GCST005174_19	Coronary artery calcified atherosclerotic plaque score in type 2 diabetes	2.000000e-06
GCST005951_148	Body mass index	4.000000e-09
GCST005987_37	Albumin-globulin ratio	8.000000e-14
GCST005990_52	Non-albumin protein levels	7.000000e-16
GCST006485_4	Telomere length	7.000000e-07
GCST008568_9	IgA levels	4.000000e-11
GCST012396_5	Multiple myeloma	4.000000e-08
GCST90002390_135	Mean corpuscular hemoglobin	3.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004536	total blood protein measurement
EFO:0008424	IgG digalactosylation measurement
EFO:0008428	IgG sialylation measurement
EFO:0004723	coronary artery calcification
EFO:0004340	body mass index
EFO:0005128	albumin:globulin ratio measurement
EFO:0004527	mean corpuscular hemoglobin

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	8
trichostatin A	affects expression, decreases reaction, decreases expression, increases expression	4
bisphenol A	affects expression, decreases expression, increases expression, increases methylation	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	3
Cadmium Chloride	increases expression, decreases expression	3
arsenite	affects binding, decreases reaction, increases methylation	2
sodium arsenite	affects methylation, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	2
Estradiol	decreases expression, decreases reaction, increases expression	2
Ethinyl Estradiol	affects expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	affects expression, increases expression	2
Tretinoin	increases expression	2
Metribolone	increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
geldanamycin	increases expression	1
methylmercuric chloride	decreases expression, increases expression	1
triphenyl phosphate	affects expression	1
sulforaphane	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
cupric chloride	increases expression	1
triadimefon	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1

Cellosaurus cell lines

4 cell lines: 3 embryonic stem cell, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A1I9	SEES3-1V human ELL2, clone1	Embryonic stem cell	Male
CVCL_A1J0	SEES3-1V human ELL2, clone2	Embryonic stem cell	Male
CVCL_A1J1	SEES3-1V human ELL2, clone3	Embryonic stem cell	Male
CVCL_B1R0	Abcam HeLa ELL2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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