GREB1

Summary

GREB1 (growth regulating estrogen receptor binding 1, HGNC:24885) is a protein-coding gene on chromosome 2p25.1, encoding Protein GREB1 (Q4ZG55). May play a role in estrogen-stimulated cell proliferation.

This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Source: NCBI Gene 9687 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 375 total
• MANE Select transcript: NM_014668

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24885
Approved symbol	GREB1
Name	growth regulating estrogen receptor binding 1
Location	2p25.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0575
Ensembl gene	ENSG00000196208
Ensembl biotype	protein_coding
OMIM	611736
Entrez	9687

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 2 retained_intron

ENST00000234142, ENST00000263834, ENST00000381483, ENST00000381486, ENST00000389825, ENST00000396123, ENST00000432985, ENST00000470980, ENST00000472040, ENST00000628795, ENST00000912084, ENST00000950322

RefSeq mRNA: 3 — MANE Select: NM_014668 NM_014668, NM_033090, NM_148903

CCDS: CCDS33146, CCDS33147, CCDS42655

Canonical transcript exons

ENST00000381486 — 33 exons

Exon	Start	End
ENSE00000711287	11618288	11618919
ENSE00000711289	11620905	11621007
ENSE00000711293	11625154	11625312
ENSE00000711297	11626962	11627104
ENSE00000711300	11629948	11630109
ENSE00000711307	11632889	11633063
ENSE00000804777	11576353	11576535
ENSE00000804779	11578297	11578431
ENSE00000804781	11580704	11580832
ENSE00000804782	11585161	11585274
ENSE00000804799	11634131	11634349
ENSE00000804800	11635270	11635405
ENSE00000804801	11637716	11637916
ENSE00000804802	11638671	11638809
ENSE00001271842	11631909	11632113
ENSE00001488824	11610688	11611027
ENSE00001488827	11602406	11602542
ENSE00001488830	11600800	11600995
ENSE00001488832	11598680	11598860
ENSE00001488834	11597781	11597978
ENSE00001488836	11596111	11596239
ENSE00001488837	11595251	11595379
ENSE00001488841	11592776	11593126
ENSE00001488843	11588746	11588931
ENSE00001506994	11585762	11585905
ENSE00001523984	11640291	11642788
ENSE00001523991	11534045	11534254
ENSE00001524038	11556454	11556771
ENSE00003492918	11615091	11615290
ENSE00003517605	11562463	11562582
ENSE00003597621	11566480	11566656
ENSE00003693178	11616631	11616720
ENSE00003759338	11612495	11612610

Expression profiles

Bgee: expression breadth ubiquitous, 219 present calls, max score 98.22.

FANTOM5 (CAGE): breadth broad, TPM avg 16.9629 / max 392.6490, expressed in 621 samples.

FANTOM5 promoters (27 alternative TSS)

Promoter ID	TPM avg	Samples expressed
18891	6.9743	111
18884	2.0077	113
18873	1.5165	370
18883	1.3131	132
18885	1.0038	99
18872	0.5381	253
18889	0.4375	107
18906	0.3374	108
18904	0.3211	147
18881	0.2925	111

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ovary	UBERON:0002119	98.22	gold quality
right ovary	UBERON:0002118	97.33	gold quality
ovary	UBERON:0000992	96.62	gold quality
germinal epithelium of ovary	UBERON:0001304	94.49	gold quality
endocervix	UBERON:0000458	94.18	gold quality
left uterine tube	UBERON:0001303	92.37	gold quality
myometrium	UBERON:0001296	91.70	gold quality
body of uterus	UBERON:0009853	91.39	gold quality
right uterine tube	UBERON:0001302	90.26	gold quality
adrenal tissue	UBERON:0018303	90.09	gold quality
prostate gland	UBERON:0002367	89.21	gold quality
uterus	UBERON:0000995	88.80	gold quality
ectocervix	UBERON:0012249	88.63	gold quality
endometrium	UBERON:0001295	88.21	gold quality
female reproductive system	UBERON:0000474	87.25	gold quality
vagina	UBERON:0000996	83.75	gold quality
endometrium epithelium	UBERON:0004811	83.74	gold quality
caput epididymis	UBERON:0004358	82.89	gold quality
fallopian tube	UBERON:0003889	82.86	gold quality
uterine cervix	UBERON:0000002	81.70	gold quality
decidua	UBERON:0002450	78.74	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.69	gold quality
primary visual cortex	UBERON:0002436	78.51	gold quality
right testis	UBERON:0004534	78.43	gold quality
left testis	UBERON:0004533	78.33	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.28	gold quality
oviduct epithelium	UBERON:0004804	78.27	gold quality
testis	UBERON:0000473	78.06	gold quality
smooth muscle tissue	UBERON:0001135	77.95	gold quality
right frontal lobe	UBERON:0002810	77.11	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-75140	yes	85.33
E-ANND-3	yes	7.32

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AIP, AR, EP300, ESR1, FOS, FOXA1, GATA3, JUN, MED1, NCOA6, NR5A2, PRKDC, RARA, RARG, STAT1, STAT3, TFAP2C

miRNA regulators (miRDB)

75 targeting GREB1, 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-340-5P	100.00	72.50	4437
HSA-MIR-9-5P	100.00	72.28	2361
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-5692A	100.00	74.40	6850
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4502	99.65	66.99	1021

Literature-anchored findings (GeneRIF, showing 37)

• Estrogen receptors are recruited at several proximal and distal estrogen response elements upstream of the GREB1 transcription unit. (PMID:15001666)
• GREB1 is critically involved in the estrogen induced growth of breast cancer cells. (PMID:15986123)
• GREB1 is expressed in proliferating prostatic tissue and prostate cancer, is regulated by androgens, and suppression of GREB1 blocks androgen-induced growth suggesting GREB1 may be critically involved in prostate cancer proliferation. (PMID:16496412)
• Data show that the induction of the gene regulated in breast cancer 1 (GREB1) is mediated by binding of estrogen receptor alpha to three consensus estrogen response elements spread over approximately 20 kb of upstream flanking sequences. (PMID:17463000)
• estrogen-stimulated GREB1 transcription may involve coordinated ER binding to all three distal consensus ERE motifs (PMID:17666587)
• GREB1 is expressed in human skin, and is dose-dependently induced by topical 17-beta-estradiol treatment (PMID:18794456)
• Characterize a monoclonal antibody that recognizes GREB1 protein in breast cancer cells. (PMID:19842031)
• Tissue expression of GREB1 is associated with organ-confined prostate cancer and may constitute a gene associated with a favorable prognosis. (PMID:19945309)
• Longer survival was associated with hypomethylation at specific CpG sites (e.g. GREB1, TGIF and TOB1) and hypermethylation in other genes (e.g. TMCO5, PTPRN and GUCY2C). (PMID:21577013)
• in ER-positive breast cancer cells, LRH-1 promotes cell proliferation by enhancing ERalpha mediated transcription of target genes such as GREB-1 (PMID:22359603)
• GREB1 alpha mRNA/protein expression levels were increased in ectopic tissue in peritoneal endometriosis. (PMID:22884659)
• GREB1 is one of the central estrogen-specific ER cofactors, where it functions to mediate interactions between the ER and additional proteins. (PMID:23403292)
• RAD54B and GREB1 gene polymorphisms may not be associated with PCOS in the Han Chinese population. (PMID:23876972)
• The expression of Greb1 was up-regulated in mouse tumors treated with E2 and was overexpressed in human ovarian cancers relative to human ovarian surface epithelium, suggesting a role for GREB1 in human ovarian tumor progression. (PMID:24469735)
• GREB1 is a critical mediator of both the estrogen-stimulated proliferation of breast cancer cells and the androgen-stimulated proliferation of prostate cancer cells (PMID:24998469)
• the GREB1 region on chromosome 2p25.1 and the GREB1 gene may play a role in endometriosis risk (PMID:25788566)
• The aim of this study was to determine if genetic variation within GREB1 was associated with BMD variation. (PMID:28293781)
• Whole exome sequence analysis of two families with renal agenesis identified a single candidate gene, GREB1L. Data implicates GREB1L as a coactivator for RARs. (PMID:28739660)
• GREB1 is a novel progesterone-responsive gene required for endometrial stromal decidualization. (PMID:28911214)
• Which were rescued by wild-type human GREB1L mRNA. (PMID:29100090)
• A significant association between GREB1L variants and BKA. (PMID:29100091)
• Exome sequencing identified ROBO1 variants in one family and a GREB1L variant in another family. GREB1L and ROBO1 were added to our kidney-gene panel and additional variants were identified. Next-generation sequencing substantially contributes to identifying causes of fetal kidney anomalies. (PMID:29194579)
• Low GREB1 expression is associated with Tamoxifen Resistance in Breast Cancer. (PMID:29212856)
• GREB1a has an isoform-specific function as a transcriptional regulator while all isoforms share an ER-independent activity that regulates proliferation (PMID:29695586)
• we demonstrate that GREB1L is a key player in early inner ear and eighth cranial nerve development. Abnormalities in cochleovestibular anatomy can provide challenges for cochlear implantation. Combining a molecular diagnosis with imaging techniques might aid the development of individually tailored therapeutic interventions in the future (PMID:29955957)
• Overexpression of GREB1 in ovarian cancer cell lines is associated with increased cell proliferation, migration, and mesenchymal morphology. (PMID:29973689)
• GREB1 knockdown in high AR output cells restores enzalutamide sensitivity in vivo. (PMID:30644358)
• GREB1-rearranged uterine sarcomas involved significantly older women, tended to be larger and more mitotically active, showed more variable and often inconspicuous sex-cord differentiation, and appeared to behave more aggressively. (PMID:31094921)
• Our results demonstrated a genetic association between the rs1250248 (FN1) SNP and endometriosis at both the genotypic and allelic level. However, although rs11674184 of GREB1 constitutes one of the most consistently associated SNPs with endometriosis in European ancestry populations, it was not found to be associated with endometriosis in this study (PMID:31115525)
• NCOA6 associates with the GREB1 promoter and enhancer in an E2-independent manner and that NCOA6 knockout reduces chromatin looping, enhancer-promoter interactions, and basal GREB1 expression in the absence of estradiol. (PMID:31744881)
• we focused on estrogen stimulation of the well-characterized GREB1 and MYC target genes that revealed large differences in cell-by-cell responses, and, more interestingly, between alleles within the same cell, both over time and hormone concentration. (PMID:31930333)
• Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population.", trans “Associacao de polimorfismos de unico nucleotideo com a endometriose em uma populacao brasileira. (PMID:32232822)
• GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome. (PMID:32378186)
• Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. (PMID:32585897)
• Oncogenic mutation in RAS-RAF axis leads to increased expression of GREB1, resulting in tumor proliferation in colorectal cancer. (PMID:32629543)
• GREB1 regulates PI3K/Akt signaling to control hormone-sensitive breast cancer proliferation. (PMID:32894276)
• GREB1 isoform 4 is specifically transcribed by MITF and required for melanoma proliferation. (PMID:37658191)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	greb1	ENSDARG00000070794
mus_musculus	Greb1	ENSMUSG00000036523
rattus_norvegicus	Greb1	ENSRNOG00000024651

Paralogs (1): GREB1L (ENSG00000141449)

Protein

Protein identifiers

Protein GREB1 — Q4ZG55 (reviewed: Q4ZG55)

Alternative names: Gene regulated in breast cancer 1 protein

All UniProt accessions (4): A0A0D9SG99, C9JIG0, F8W6E5, Q4ZG55

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in estrogen-stimulated cell proliferation. Acts as a regulator of hormone-dependent cancer growth in breast and prostate cancers.

Subcellular location. Membrane.

Tissue specificity. Expressed in proliferating prostatic tissue and prostate cancer.

Induction. Estrogen-responsive; regulated by estrogen receptors. Regulated by androgens. The regulatory region of the gene contains 3 estrogen-responsive elements.

Similarity. Belongs to the GREB1 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q4ZG55-1	1, GREB1a	yes
Q4ZG55-2	2, GREB1b
Q4ZG55-3	3, GREB1c
Q4ZG55-4	4

RefSeq proteins (3): NP_055483, NP_149081, NP_683701 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028422	GREB1	Family
IPR046926	GREB1_N	Domain
IPR046927	GREB1-like_C	Domain
IPR048657	GREB1-like_cpSF2	Domain
IPR048659	GREB1-like_2nd	Domain
IPR049100	TAGT	Domain

Pfam: PF15782, PF20267, PF20688, PF20691, PF20692

UniProt features (25 total): sequence variant 9, splice variant 5, compositionally biased region 5, region of interest 3, chain 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4ZG55-F1	71.10	0.25

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9018519	Estrogen-dependent gene expression

MSigDB gene sets: 181 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, chr2p25, ZHAN_MULTIPLE_MYELOMA_MF_UP, GOZGIT_ESR1_TARGETS_DN, STOSSI_RESPONSE_TO_ESTRADIOL, YOKOE_CANCER_TESTIS_ANTIGENS, MODULE_205, ONKEN_UVEAL_MELANOMA_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, SMID_BREAST_CANCER_LUMINAL_B_UP, GATA6_01, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, LASTOWSKA_COAMPLIFIED_WITH_MYCN

GO Biological Process (1): morphogenesis of an epithelium (GO:0002009)

GO Molecular Function (0):

GO Cellular Component (3): nucleoplasm (GO:0005654), membrane (GO:0016020), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
ESR-mediated signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
tissue morphogenesis	1
epithelium development	1
nuclear lumen	1
extracellular vesicle	1

Protein interactions and networks

STRING

950 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GREB1	ESR1	P03372	936
GREB1	TFF1	P04155	882
GREB1	PGR	P06401	793
GREB1	NCOA3	Q9Y6Q9	644
GREB1	PDZK1	Q5T2W1	614
GREB1	FOXA1	P55317	584
GREB1	NRIP1	P48552	576
GREB1	CYP19A1	P11511	571
GREB1	NCOA1	Q15788	529
GREB1	VEZT	Q9HBM0	507
GREB1	WNT4	P56705	496
GREB1	ESR2	Q92731	492
GREB1	CCNI	Q14094	461
GREB1	IGF1	P01343	455
GREB1	GATA3	P23771	448

IntAct

24 interactions, top by confidence:

A	B	Type	Score
DNAJC7	PLD2	psi-mi:“MI:0914”(association)	0.640
TKT	POTEF	psi-mi:“MI:0914”(association)	0.530
GREB1	HSPA9	psi-mi:“MI:0915”(physical association)	0.400
GREB1		psi-mi:“MI:0915”(physical association)	0.370
BCAR3	GREB1	psi-mi:“MI:0915”(physical association)	0.370
CASP8	GREB1	psi-mi:“MI:0915”(physical association)	0.370
CDKN2C	GREB1	psi-mi:“MI:0915”(physical association)	0.370
GREB1	HMMR	psi-mi:“MI:0915”(physical association)	0.370
GREB1	HRAS	psi-mi:“MI:0915”(physical association)	0.370
LSP1	GREB1	psi-mi:“MI:0915”(physical association)	0.370
GREB1	PALB2	psi-mi:“MI:0915”(physical association)	0.370
GREB1	RB1CC1	psi-mi:“MI:0915”(physical association)	0.370
SMAD4	GREB1	psi-mi:“MI:0915”(physical association)	0.370
TGFB1	GREB1	psi-mi:“MI:0915”(physical association)	0.370
XRCC3	GREB1	psi-mi:“MI:0915”(physical association)	0.370
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
DNAJA2	DENND11	psi-mi:“MI:0914”(association)	0.350
DPPA3	TBKBP1	psi-mi:“MI:0914”(association)	0.350
TTC9C	PLD2	psi-mi:“MI:0914”(association)	0.350
PRKAR1B	DNAJC13	psi-mi:“MI:0914”(association)	0.350
PNKD	ADD1	psi-mi:“MI:0914”(association)	0.350
BAG2	PIK3C2A	psi-mi:“MI:0914”(association)	0.350
	ILVBL	psi-mi:“MI:0914”(association)	0.350

BioGRID (35): GREB1 (Two-hybrid), GREB1 (Two-hybrid), GREB1 (Two-hybrid), GREB1 (Two-hybrid), GREB1 (Two-hybrid), GREB1 (Two-hybrid), GREB1 (Two-hybrid), GREB1 (Two-hybrid), GREB1 (Two-hybrid), GREB1 (Two-hybrid), GREB1 (Two-hybrid), GREB1 (Affinity Capture-MS), GREB1 (Affinity Capture-MS), GREB1 (Affinity Capture-RNA), GREB1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0D9SF12, A2A8T7, A6H7E2, A6NF36, A6NFA0, A6NI87, E1C7U0, P03246, P03247, P0DO92, P14355, P14683, Q0VG49, Q1HVF6, Q32LN6, Q3KPU7, Q3KSS3, Q4V7D2, Q4ZG55, Q5DU28, Q5JX69, Q5JX71, Q5R7E2, Q5U4U4, Q642A3, Q6NRW0, Q6P1U0, Q6P4J6, Q6P9N1, Q6PEX7, Q6X4T0, Q7L3B6, Q7SYV9, Q7T346, Q80Y73, Q8BJS8, Q8CF25, Q8IWB6, Q8N6T0, Q8NCU1

Diamond homologs: B8JKP6, B9EJV3, Q3UHK3, Q4ZG55, Q9C091

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
AIP	“down-regulates quantity by repression”	GREB1	“transcriptional regulation”
ESR1	“up-regulates quantity by expression”	GREB1	“transcriptional regulation”
NCOA6	“up-regulates quantity by expression”	GREB1	“transcriptional regulation”
GREB1	“down-regulates activity”	SMAD2	binding
GREB1	“down-regulates activity”	SMAD3	binding
GREB1	up-regulates	Proliferation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	308
Likely benign	30
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

6477 predictions. Top by Δscore:

Variant	Effect	Δscore
2:11534198:A:T	donor_gain	1.0000
2:11566652:TCTTG:T	donor_gain	1.0000
2:11566657:G:GA	donor_loss	1.0000
2:11566657:G:GG	donor_gain	1.0000
2:11566658:TAAG:T	donor_loss	1.0000
2:11580826:GCTT:G	donor_gain	1.0000
2:11588927:GCTGG:G	donor_gain	1.0000
2:11588928:CTGGG:C	donor_loss	1.0000
2:11588930:GG:G	donor_gain	1.0000
2:11588931:GG:G	donor_gain	1.0000
2:11588932:GTG:G	donor_loss	1.0000
2:11588933:TGAGT:T	donor_loss	1.0000
2:11593126:GGTGA:G	donor_loss	1.0000
2:11593127:G:GA	donor_loss	1.0000
2:11593127:G:GG	donor_gain	1.0000
2:11593128:T:A	donor_loss	1.0000
2:11595249:A:AG	acceptor_gain	1.0000
2:11595250:G:GG	acceptor_gain	1.0000
2:11595250:GGA:G	acceptor_gain	1.0000
2:11595250:GGAA:G	acceptor_gain	1.0000
2:11595250:GGAAA:G	acceptor_gain	1.0000
2:11595310:G:GT	donor_gain	1.0000
2:11595336:G:GT	donor_gain	1.0000
2:11595336:G:T	donor_gain	1.0000
2:11595337:A:T	donor_gain	1.0000
2:11595376:CCAG:C	donor_loss	1.0000
2:11595377:CAGG:C	donor_loss	1.0000
2:11595378:AG:A	donor_loss	1.0000
2:11595380:GTAG:G	donor_loss	1.0000
2:11596109:AGAG:A	acceptor_gain	1.0000

AlphaMissense

12756 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:11640368:T:A	W1922R	1.000
2:11640368:T:C	W1922R	1.000
2:11585897:T:A	I384K	0.999
2:11597838:T:C	L671P	0.999
2:11631927:A:C	S1544R	0.999
2:11631929:T:A	S1544R	0.999
2:11631929:T:G	S1544R	0.999
2:11632021:T:A	V1575D	0.999
2:11632059:T:A	W1588R	0.999
2:11632059:T:C	W1588R	0.999
2:11632078:T:C	L1594P	0.999
2:11632916:T:C	L1615P	0.999
2:11633023:T:A	W1651R	0.999
2:11633023:T:C	W1651R	0.999
2:11638744:T:C	L1874P	0.999
2:11640306:T:A	V1901D	0.999
2:11640330:T:C	L1909P	0.999
2:11640342:T:A	V1913D	0.999
2:11640357:T:C	L1918P	0.999
2:11640370:G:C	W1922C	0.999
2:11640370:G:T	W1922C	0.999
2:11640375:T:C	F1924S	0.999
2:11640435:T:C	L1944P	0.999
2:11556667:T:C	L18S	0.998
2:11566609:T:A	V136D	0.998
2:11585855:T:A	V370D	0.998
2:11588920:T:C	L445P	0.998
2:11593073:T:A	V548D	0.998
2:11593121:T:A	V564D	0.998
2:11600904:T:C	L813P	0.998

dbSNP variants (sampled 300 via entrez): RS1000006817 (2:11604743 C>A,T), RS1000012058 (2:11514388 C>G,T), RS1000023861 (2:11636212 C>A,T), RS1000026085 (2:11542301 G>A,T), RS1000036281 (2:11554061 A>C,G), RS1000037107 (2:11521026 G>A), RS1000050142 (2:11592181 T>C), RS1000085244 (2:11514120 A>G), RS1000091264 (2:11545613 A>T), RS1000094418 (2:11607191 C>A), RS1000106923 (2:11521311 T>C), RS1000115423 (2:11598923 G>A,T), RS1000169361 (2:11505813 C>T), RS1000176786 (2:11545178 C>T), RS1000203765 (2:11586598 C>T)

Disease associations

OMIM: gene MIM:611736 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST001720_2	Endometriosis	6.000000e-09
GCST001762_139	Obesity-related traits	9.000000e-06
GCST001762_310	Obesity-related traits	7.000000e-08
GCST002875_39	Diisocyanate-induced asthma	1.000000e-06
GCST004250_40	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	4.000000e-06
GCST004250_9	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	2.000000e-08
GCST004549_12	Endometriosis	3.000000e-17
GCST004549_23	Endometriosis	1.000000e-12
GCST004549_30	Endometriosis	3.000000e-14
GCST004549_32	Endometriosis	1.000000e-12
GCST006438_1	High density lipoprotein cholesterol levels	2.000000e-07
GCST006462_49	Uterine fibroids	8.000000e-10
GCST006462_5	Uterine fibroids	7.000000e-10
GCST009158_33	Uterine fibroids	2.000000e-19
GCST009184_1	Inferior parietal cortex volume	6.000000e-06
GCST009823_4	Gynecologic disease (multivariate analysis)	5.000000e-08
GCST011741_47	LDL cholesterol levels in HIV infection	9.000000e-06
GCST90026414_5	Severe insulin-resistant type 2 diabetes	6.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004626	IGFBP-3 measurement
EFO:0006995	response to diisocyanate
EFO:0007965	response to combination chemotherapy
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	increases expression, increases reaction, affects reaction, affects cotreatment, decreases expression (+3 more)	43
bisphenol A	affects cotreatment, decreases methylation, affects binding, increases reaction, decreases reaction (+3 more)	16
Fulvestrant	decreases methylation, decreases reaction, increases expression, decreases expression, decreases response to substance (+1 more)	9
Zearalenone	increases expression	5
Genistein	affects binding, increases reaction, increases expression	5
bisphenol B	increases expression, increases reaction	4
Valproic Acid	affects cotreatment, decreases expression, increases expression	4
kaempferol	decreases reaction, increases expression, affects binding, increases reaction	3
afimoxifene	decreases reaction, increases expression	3
bisphenol S	increases expression, decreases reaction	3
(+)-JQ1 compound	affects binding, affects reaction, increases reaction, decreases reaction, increases expression (+1 more)	3
bisphenol AF	decreases reaction, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression	3
Coumestrol	affects cotreatment, increases expression, affects reaction	3
Progesterone	affects reaction, increases expression, decreases reaction, affects cotreatment	3
Testosterone	decreases reaction, increases expression, affects cotreatment, decreases expression	3
Tetrachlorodibenzodioxin	affects binding, decreases reaction, increases reaction, affects cotreatment, decreases expression	3
Aflatoxin B1	decreases expression, increases methylation	3
daidzein	increases expression, decreases reaction	2
butylparaben	increases expression, decreases reaction	2
S-(1,2-dichlorovinyl)cysteine	decreases expression, decreases reaction, increases expression	2
bisphenol Z	decreases reaction, increases expression	2
Resveratrol	increases expression, decreases reaction, affects binding, increases reaction, affects cotreatment	2
Arsenic	increases expression, decreases expression, affects methylation, decreases reaction	2
Diethylstilbestrol	increases expression	2
Ethinyl Estradiol	increases expression	2
Lipopolysaccharides	affects cotreatment, increases expression, decreases expression, decreases reaction	2
Nickel	decreases expression	2
Dihydrotestosterone	increases expression	2
Metribolone	decreases reaction, increases expression	2

Clinical trials (associated diseases)

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