NCOA7

Summary

NCOA7 (nuclear receptor coactivator 7, HGNC:21081) is a protein-coding gene on chromosome 6q22.31-q22.32, encoding Nuclear receptor coactivator 7 (Q8NI08). Enhances the transcriptional activities of several nuclear receptors.

Enables nuclear receptor binding activity and transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 135112 — RefSeq curated summary.

At a glance

• GWAS associations: 32
• Clinical variants (ClinVar): 141 total
• MANE Select transcript: NM_181782

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21081
Approved symbol	NCOA7
Name	nuclear receptor coactivator 7
Location	6q22.31-q22.32
Locus type	gene with protein product
Status	Approved
Aliases	ERAP140, dJ187J11.3, TLDC4
Ensembl gene	ENSG00000111912
Ensembl biotype	protein_coding
OMIM	609752
Entrez	135112

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 15 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000229634, ENST00000368357, ENST00000392477, ENST00000417494, ENST00000419660, ENST00000428318, ENST00000433571, ENST00000438495, ENST00000444128, ENST00000453302, ENST00000487635, ENST00000867852, ENST00000934256, ENST00000934257, ENST00000969201, ENST00000969202, ENST00000969203

RefSeq mRNA: 6 — MANE Select: NM_181782 NM_001122842, NM_001199619, NM_001199620, NM_001199621, NM_001199622, NM_181782

CCDS: CCDS5132, CCDS56448, CCDS83125

Canonical transcript exons

ENST00000392477 — 16 exons

Exon	Start	End
ENSE00001617948	125790960	125791067
ENSE00002498964	125928636	125932034
ENSE00003634530	125815291	125815404
ENSE00003645935	125927663	125927758
ENSE00003730044	125922682	125922834
ENSE00003734238	125915333	125915480
ENSE00003754534	125920943	125921068
ENSE00003888745	125874889	125874968
ENSE00003889755	125888939	125889981
ENSE00003890192	125882426	125882551
ENSE00003890899	125855020	125855240
ENSE00003893954	125928174	125928247
ENSE00003894274	125881090	125881203
ENSE00003894539	125885159	125885343
ENSE00003895410	125890642	125890810
ENSE00003895677	125878263	125878370

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 99.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.0731 / max 1263.1181, expressed in 1807 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
69678	18.2070	1730
69684	8.3656	907
69669	3.6240	993
69685	2.8947	505
69668	2.8438	974
69686	1.7313	384
69683	1.2534	414
69676	1.0338	186
69672	0.3407	142
69674	0.3283	133

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	99.36	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.34	gold quality
epithelial cell of pancreas	CL:0000083	99.26	gold quality
mucosa of paranasal sinus	UBERON:0005030	99.19	gold quality
Brodmann (1909) area 46	UBERON:0006483	99.12	gold quality
middle temporal gyrus	UBERON:0002771	99.00	gold quality
endothelial cell	CL:0000115	98.96	gold quality
parietal pleura	UBERON:0002400	98.84	gold quality
visceral pleura	UBERON:0002401	98.83	gold quality
dorsal root ganglion	UBERON:0000044	98.81	gold quality
pons	UBERON:0000988	98.73	gold quality
cerebellar vermis	UBERON:0004720	98.52	gold quality
parotid gland	UBERON:0001831	98.48	gold quality
bronchial epithelial cell	CL:0002328	98.29	gold quality
bronchus	UBERON:0002185	98.21	gold quality
postcentral gyrus	UBERON:0002581	98.00	gold quality
entorhinal cortex	UBERON:0002728	98.00	gold quality
parietal lobe	UBERON:0001872	97.94	gold quality
substantia nigra pars compacta	UBERON:0001965	97.91	gold quality
palpebral conjunctiva	UBERON:0001812	97.90	gold quality
pancreatic ductal cell	CL:0002079	97.86	gold quality
superior vestibular nucleus	UBERON:0007227	97.84	gold quality
esophagus squamous epithelium	UBERON:0006920	97.79	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.73	gold quality
lower lobe of lung	UBERON:0008949	97.61	gold quality
superior frontal gyrus	UBERON:0002661	97.57	gold quality
nasal cavity epithelium	UBERON:0005384	97.54	gold quality
ileal mucosa	UBERON:0000331	97.52	gold quality
medulla oblongata	UBERON:0001896	97.42	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.40	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-81547	yes	21.63
E-CURD-119	yes	20.10
E-CURD-46	yes	17.32
E-GEOD-83139	yes	11.79
E-GEOD-81608	yes	6.86
E-MTAB-6678	yes	5.20
E-HCAD-10	yes	4.51
E-HCAD-11	no	1039.41
E-HCAD-29	no	367.72
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

183 targeting NCOA7, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-374A-5P	99.90	71.34	2923

Literature-anchored findings (GeneRIF, showing 11)

• ERAP140 may represent a distinct class of nuclear receptor coactivators. ERAP140 is recruited by estrogen-bound ER alpha to the promoter region of endogenous ER alpha target genes in a cyclic pattern similar to that of other coactivators. (PMID:11971969)
• NCOA7 encodes the nuclear counterpart of the mitochondrial OXR1 protein and in mammalian cells it may reduce the oxidative by-products of estrogen metabolite-mediated DNA damage. (PMID:17391516)
• present findings indicate that ERAP140/Nbla10993 plays an important role in the regulation of ATRA-mediated neuronal differentiation, and is a novel member of prognostic indicators for neuroblastoma. (PMID:18497940)
• These observations provide consistent evidence that genetic variants at the NCOA7 locus may confer a reduced risk of breast cancer. (PMID:21610108)
• this study reveals NCOA7 as a potential biomarker in oral squamous cell carcinoma arising from oral submucous fibrosis (PMID:27509054)
• Overexpression of NCOA7iso4 inhibits fusion and infection triggered by viral glycoproteins known to mediate entry at endomembranes, but not of glycoproteins that fuse at the plasma membrane. (PMID:30700004)
• Engagement of Nuclear Coactivator 7 by 3-Hydroxyanthranilic Acid Enhances Activation of Aryl Hydrocarbon Receptor in Immunoregulatory Dendritic Cells. (PMID:31481962)
• Crystal structure of the TLDc domain of human NCOA7-AS. (PMID:34341188)
• TMPRSS2 promotes SARS-CoV-2 evasion from NCOA7-mediated restriction. (PMID:34807954)
• NCOA7 Regulates Growth and Metastasis of Clear Cell Renal Cell Carcinoma via MAPK/ERK Signaling Pathway. (PMID:37511343)
• Nuclear receptor coactivator 7 (NCOA7) protects cancer cells from oxidative damage through its ERbd domain. (PMID:39243920)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ncoa7a	ENSDARG00000077559
danio_rerio	ncoa7b	ENSDARG00000101118
mus_musculus	Ncoa7	ENSMUSG00000039697
rattus_norvegicus	Ncoa7	ENSRNOG00000014004

Paralogs (3): TLDC2 (ENSG00000101342), MEAK7 (ENSG00000140950), OXR1 (ENSG00000164830)

Protein

Protein identifiers

Nuclear receptor coactivator 7 — Q8NI08 (reviewed: Q8NI08)

Alternative names: 140 kDa estrogen receptor-associated protein, Estrogen nuclear receptor coactivator 1

All UniProt accessions (6): Q8NI08, H0Y5F6, H0Y6T0, Q5TF96, Q5TF97, Q5TF98

UniProt curated annotations — full annotation on UniProt →

Function. Enhances the transcriptional activities of several nuclear receptors. Involved in the coactivation of different nuclear receptors, such as ESR1, THRB, PPARG and RARA.

Subunit / interactions. Interacts with ESR1, ESR2A, ESR2B, THRB, PPARG and RARA in a ligand-inducible manner. Interacts with the heterodimer AHR-ARNT.

Subcellular location. Nucleus.

Tissue specificity. Highly expressed in brain. Weakly expressed in mammary gland, ovary, uterus, prostate, stomach, bladder, spinal cord and pancreas. Expressed in cancer cell line.

Similarity. Belongs to the OXR1 family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q8NI08-1	1	yes
Q8NI08-2	2
Q8NI08-3	3
Q8NI08-4	4
Q8NI08-5	5
Q8NI08-6	6
Q8NI08-7	7

RefSeq proteins (6): NP_001116314, NP_001186548, NP_001186549, NP_001186550, NP_001186551, NP_861447* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006571	TLDc_dom	Domain
IPR018392	LysM	Domain
IPR036779	LysM_dom_sf	Homologous_superfamily

Pfam: PF01476, PF07534

UniProt features (63 total): modified residue 11, strand 11, sequence conflict 10, splice variant 9, compositionally biased region 5, region of interest 3, sequence variant 3, helix 3, domain 2, mutagenesis site 2, turn 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7OBP	X-RAY DIFFRACTION	1.8
8AR6	X-RAY DIFFRACTION	2.2
8AR9	X-RAY DIFFRACTION	2.36

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NI08-F1	56.16	0.18

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 (11): 1, 89, 134, 179, 183, 208, 209, 211, 441, 500, 502

Mutagenesis-validated functional residues (2):

Position	Phenotype
511–517	no action on the e2-induced esr1 binding.
522–523	abolishes completely the e2-induced esr1 binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 309 (showing top): MODULE_255, FISCHER_G1_S_CELL_CYCLE, MODULE_317, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_OXIDATIVE_STRESS, WANG_LMO4_TARGETS_DN, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, AAAGGGA_MIR204_MIR211, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, TCCAGAT_MIR5165P, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS, GOBP_REGULATION_OF_RESPONSE_TO_OXIDATIVE_STRESS, TGCCTTA_MIR124A, GAVIN_FOXP3_TARGETS_CLUSTER_P7

GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), response to oxidative stress (GO:0006979), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of cellular response to oxidative stress (GO:1900408)

GO Molecular Function (3): transcription coactivator activity (GO:0003713), nuclear receptor binding (GO:0016922), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
positive regulation of DNA-templated transcription	2
intracellular membrane-bounded organelle	2
regulation of DNA-templated transcription	1
response to stress	1
regulation of transcription by RNA polymerase II	1
cellular response to oxidative stress	1
negative regulation of cellular process	1
regulation of cellular response to oxidative stress	1
negative regulation of response to oxidative stress	1
transcription coregulator activity	1
RNA polymerase II-specific DNA-binding transcription factor binding	1
binding	1
cytoplasm	1

Protein interactions and networks

STRING

646 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NCOA7	ESR2	Q92731	785
NCOA7	ESR1	P03372	690
NCOA7	RARA	P10276	687
NCOA7	PPARG	P37231	613
NCOA7	NCOA2	Q15596	607
NCOA7	NCOA1	Q15788	605
NCOA7	NCOA3	Q9Y6Q9	576
NCOA7	CDC16	Q13042	572
NCOA7	THRB	P10828	537
NCOA7	NCOR2	Q9Y618	535
NCOA7	NCOR1	O75376	521
NCOA7	RXRA	P19793	493
NCOA7	KAT2B	Q92831	464
NCOA7	TMCO5A	Q8N6Q1	457
NCOA7	PRMT1	Q99873	455

IntAct

44 interactions, top by confidence:

A	B	Type	Score
AHR	ARNT	psi-mi:“MI:0914”(association)	0.740
ARNT	AHR	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NCOA7	GABARAPL1	psi-mi:“MI:0407”(direct interaction)	0.630
GABARAP	IPO5	psi-mi:“MI:0914”(association)	0.590
NCOA7	GABARAPL2	psi-mi:“MI:0407”(direct interaction)	0.570
MAP1LC3B	NCOA7	psi-mi:“MI:0407”(direct interaction)	0.570
MAP1LC3C	NCOA7	psi-mi:“MI:0407”(direct interaction)	0.570
GABARAP	NCOA7	psi-mi:“MI:0407”(direct interaction)	0.520
NCOA7	AHR	psi-mi:“MI:0915”(physical association)	0.500
NCOA7	ARNT	psi-mi:“MI:0915”(physical association)	0.500
NCOA7	DIRAS1	psi-mi:“MI:0915”(physical association)	0.400
NCOA7	PB2	psi-mi:“MI:0915”(physical association)	0.370
GABARAPL1		psi-mi:“MI:0914”(association)	0.350
GABARAP		psi-mi:“MI:0914”(association)	0.350
SYNGAP1	POM121C	psi-mi:“MI:0914”(association)	0.350
HSPA12A	ARHGEF10	psi-mi:“MI:0914”(association)	0.350
ATP6V1D	AQR	psi-mi:“MI:0914”(association)	0.350
ATP6V1D	ADD1	psi-mi:“MI:0914”(association)	0.350
GPC3	PXDNL	psi-mi:“MI:0914”(association)	0.350
INSR	UBXN8	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
TGOLN2	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
EGFR	FAM171A2	psi-mi:“MI:2364”(proximity)	0.270
FGFR1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (53): NCOA7 (Affinity Capture-MS), NCOA7 (Affinity Capture-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS), NCOA7 (Proximity Label-MS)

ESM2 similar proteins: A1A5R8, A8KBE0, B4F6Q9, E7FA21, O43166, P53804, P62287, P62289, P62290, P62291, P62292, P62293, P62294, Q06190, Q08AX9, Q0VA42, Q12923, Q13829, Q3UMB5, Q5F3E8, Q5JCS6, Q5RA75, Q5RBH4, Q5TB30, Q5XKL5, Q5ZIX8, Q65Z40, Q68FF0, Q6DJS0, Q6GQJ2, Q6IE81, Q6ING4, Q6IRN6, Q6NPP4, Q6NSI8, Q6PUR7, Q7Z5K2, Q7ZXG4, Q8C0T5, Q8CIG0

Diamond homologs: A0PJX2, A2ACG1, A5PKL1, A8KBE0, B4F6Q9, O14284, Q08952, Q0IID2, Q1LWV7, Q3UUG6, Q4KMM3, Q4V8B0, Q5ZJX5, Q5ZMS4, Q6C443, Q6CMK8, Q6DDZ9, Q6DFV7, Q6FSN5, Q6P9B6, Q755A3, Q874Z5, Q8K0P3, Q8N573, Q8NI08, Q9ULP9, Q9VIH7, Q5AEM5, P0CP42, P0CP43, Q6ZZF5, Q7S4P1, Q4WX99, Q5B8X6, Q4I8S2, Q6BJM5, A1A5K6, Q29RJ2, Q08CX5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 46 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
Macroautophagy	6	21.6×	7e-05

GO biological processes:

GO term	Partners	Fold	FDR
mitophagy	8	62.0×	1e-10
autophagosome maturation	6	51.4×	2e-07
autophagosome assembly	6	32.9×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	117
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2956 predictions. Top by Δscore:

Variant	Effect	Δscore
6:125786214:G:GG	donor_gain	1.0000
6:125815285:TTACA:T	acceptor_loss	1.0000
6:125815286:TACAG:T	acceptor_loss	1.0000
6:125815288:CAGG:C	acceptor_loss	1.0000
6:125815289:A:AG	acceptor_gain	1.0000
6:125815289:A:G	acceptor_loss	1.0000
6:125815289:AG:A	acceptor_gain	1.0000
6:125815289:AGG:A	acceptor_gain	1.0000
6:125815290:G:GA	acceptor_gain	1.0000
6:125815290:GG:G	acceptor_gain	1.0000
6:125815290:GGG:G	acceptor_gain	1.0000
6:125815290:GGGT:G	acceptor_gain	1.0000
6:125815290:GGGTT:G	acceptor_gain	1.0000
6:125815400:GCTCG:G	donor_gain	1.0000
6:125815401:CTCG:C	donor_gain	1.0000
6:125815402:TCGGT:T	donor_loss	1.0000
6:125815403:CGG:C	donor_loss	1.0000
6:125815405:G:GG	donor_gain	1.0000
6:125815405:GTA:G	donor_loss	1.0000
6:125815406:T:G	donor_loss	1.0000
6:125855015:CCTA:C	acceptor_loss	1.0000
6:125855018:A:AG	acceptor_gain	1.0000
6:125855018:A:AT	acceptor_loss	1.0000
6:125855019:G:GG	acceptor_gain	1.0000
6:125855019:G:GT	acceptor_loss	1.0000
6:125855241:GTGA:G	donor_loss	1.0000
6:125855242:TGA:T	donor_loss	1.0000
6:125855243:GAG:G	donor_loss	1.0000
6:125874969:G:GG	donor_gain	1.0000
6:125878257:TTCTA:T	acceptor_loss	1.0000

AlphaMissense

6241 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:125885171:G:C	G238R	1.000
6:125885172:G:A	G238D	1.000
6:125885204:T:C	F249L	1.000
6:125885205:T:C	F249S	1.000
6:125885206:T:A	F249L	1.000
6:125885206:T:G	F249L	1.000
6:125885232:T:A	V258D	1.000
6:125885288:T:C	S277P	1.000
6:125890788:T:A	W692R	1.000
6:125890788:T:C	W692R	1.000
6:125890792:T:C	F693S	1.000
6:125890798:T:A	V695D	1.000
6:125915406:T:C	F724L	1.000
6:125915407:T:C	F724S	1.000
6:125915408:T:A	F724L	1.000
6:125915408:T:G	F724L	1.000
6:125915475:T:A	W747R	1.000
6:125915475:T:C	W747R	1.000
6:125922721:T:A	W804R	1.000
6:125922721:T:C	W804R	1.000
6:125922751:G:T	G814W	1.000
6:125922752:G:A	G814E	1.000
6:125922770:T:C	L820P	1.000
6:125922776:G:C	R822P	1.000
6:125922806:T:C	L832P	1.000
6:125922812:T:A	V834D	1.000
6:125922820:G:C	D837H	1.000
6:125922821:A:T	D837V	1.000
6:125927666:T:C	F843L	1.000
6:125927668:T:A	F843L	1.000

dbSNP variants (sampled 300 via entrez): RS1000041821 (6:125881652 C>G), RS1000044764 (6:125914821 T>A), RS1000067922 (6:125875569 C>T), RS1000089583 (6:125911362 C>T), RS1000093232 (6:125843511 A>G), RS1000141992 (6:125873597 T>C), RS1000158093 (6:125889702 A>G,T), RS1000165871 (6:125845759 C>T), RS1000178600 (6:125907840 C>T), RS1000230899 (6:125908149 C>T), RS1000237031 (6:125815585 T>A), RS1000242693 (6:125816305 A>C), RS1000246917 (6:125786305 G>A), RS1000253779 (6:125796411 A>G), RS1000261434 (6:125874374 G>C)

Disease associations

OMIM: gene MIM:609752 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

32 associations (top):

Study	Trait	p-value
GCST002098_3	Brugada syndrome	5.000000e-17
GCST002541_56	Menarche (age at onset)	5.000000e-13
GCST003524_2	Endometrial cancer	4.000000e-10
GCST003525_1	Endometrial endometrioid carcinoma	1.000000e-11
GCST003542_18	Night sleep phenotypes	6.000000e-06
GCST003720_42	Migraine	5.000000e-09
GCST004611_65	High light scatter reticulocyte count	7.000000e-09
GCST006464_9	Endometrial cancer	3.000000e-10
GCST006465_17	Endometrial cancer (endometrioid histology)	4.000000e-10
GCST006624_102	Systolic blood pressure	5.000000e-16
GCST007267_40	Systolic blood pressure	1.000000e-15
GCST008971_101	Urate levels	2.000000e-14
GCST008972_242	Urate levels	2.000000e-14
GCST010083_334	Hemoglobin levels	2.000000e-11
GCST010702_89	Subcortical volume (MOSTest)	1.000000e-08
GCST010703_304	Brain morphology (MOSTest)	2.000000e-26
GCST012353_33	Serum metabolite concentrations in chronic kidney disease	1.000000e-10
GCST012489_126	Heel bone mineral density x serum urate levels interaction	7.000000e-10
GCST90002383_455	Hematocrit	6.000000e-12
GCST90002384_51	Hemoglobin	6.000000e-11
GCST90002385_164	High light scatter reticulocyte count	3.000000e-18
GCST90002386_110	High light scatter reticulocyte percentage of red cells	6.000000e-17
GCST90002387_289	Immature fraction of reticulocytes	2.000000e-11
GCST90002403_174	Red blood cell count	1.000000e-11
GCST90002405_204	Reticulocyte count	1.000000e-15
GCST90002406_224	Reticulocyte fraction of red cells	1.000000e-13
GCST90010427_11	Left–right brain asymmetry	1.000000e-08
GCST90020025_1084	Waist-to-hip ratio adjusted for BMI	1.000000e-09
GCST90020026_128	Hip index	3.000000e-08
GCST90020026_129	Hip index	5.000000e-11

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004703	age at menarche
EFO:1001514	endometrial endometrioid carcinoma
EFO:0007986	reticulocyte count
EFO:0006335	systolic blood pressure
EFO:0004531	urate measurement
EFO:0004509	hemoglobin measurement
EFO:0004346	neuroimaging measurement
EFO:0009270	heel bone mineral density
EFO:0004348	hematocrit
EFO:0004305	erythrocyte count
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs185217050	NCOA7		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases methylation, affects cotreatment	6
sodium arsenite	affects methylation, affects cotreatment, decreases expression, increases abundance	5
Benzo(a)pyrene	decreases expression, increases methylation	4
trichostatin A	affects cotreatment, increases expression	3
Tretinoin	decreases expression, increases expression, affects cotreatment	3
Cyclosporine	decreases expression, increases expression	3
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	decreases expression, affects cotreatment	2
Arsenic Trioxide	increases expression	2
Panobinostat	affects cotreatment, decreases expression	2
Copper	affects binding, increases expression	2
Estradiol	affects cotreatment, decreases expression	2
Lead	affects expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Smoke	decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
Glupearl 19S	decreases expression	1
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
bisphenol A	increases expression	1
glycidyl methacrylate	increases expression	1
lead acetate	decreases expression	1
beta-lapachone	increases expression	1
methylparaben	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1GK	Abcam A-549 NCOA7 KO 1	Cancer cell line	Male
CVCL_B2P4	Abcam A-549 NCOA7 KO 2	Cancer cell line	Male

Clinical trials (associated diseases)

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