DKK2

Summary

DKK2 (dickkopf Wnt signaling pathway inhibitor 2, HGNC:2892) is a protein-coding gene on chromosome 4q25, encoding Dickkopf-related protein 2 (Q9UBU2). Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6.

This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6).

Source: NCBI Gene 27123 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 33 total
• MANE Select transcript: NM_014421

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2892
Approved symbol	DKK2
Name	dickkopf Wnt signaling pathway inhibitor 2
Location	4q25
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000155011
Ensembl biotype	protein_coding
OMIM	605415
Entrez	27123

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000285311, ENST00000510463, ENST00000510534, ENST00000513208, ENST00000949483

RefSeq mRNA: 1 — MANE Select: NM_014421 NM_014421

CCDS: CCDS3675

Canonical transcript exons

ENST00000285311 — 4 exons

Exon	Start	End
ENSE00001018767	106924545	106924700
ENSE00001218354	106921802	106924204
ENSE00001218358	107035370	107036313
ENSE00003668264	106925799	106925949

Expression profiles

Bgee: expression breadth ubiquitous, 182 present calls, max score 87.36.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3343 / max 340.8350, expressed in 400 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
53499	0.6749	179
53497	0.3131	118
53502	0.1909	80
53496	0.0862	40
53503	0.0420	15
53495	0.0164	5
53498	0.0067	3
53494	0.0039	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper leg skin	UBERON:0004262	87.36	gold quality
skin of hip	UBERON:0001554	86.89	gold quality
buccal mucosa cell	CL:0002336	83.73	gold quality
calcaneal tendon	UBERON:0003701	82.84	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.48	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	77.45	gold quality
hair follicle	UBERON:0002073	75.80	silver quality
diaphragm	UBERON:0001103	74.53	silver quality
right lung	UBERON:0002167	72.45	gold quality
hindlimb stylopod muscle	UBERON:0004252	72.35	gold quality
right coronary artery	UBERON:0001625	71.27	gold quality
lower lobe of lung	UBERON:0008949	70.92	silver quality
lung	UBERON:0002048	70.32	gold quality
tibial nerve	UBERON:0001323	70.24	gold quality
visceral pleura	UBERON:0002401	69.45	gold quality
choroid plexus epithelium	UBERON:0003911	69.03	silver quality
upper lobe of lung	UBERON:0008948	68.80	gold quality
upper lobe of left lung	UBERON:0008952	68.78	gold quality
biceps brachii	UBERON:0001507	68.70	silver quality
tendon	UBERON:0000043	68.36	gold quality
zone of skin	UBERON:0000014	67.67	gold quality
skin of abdomen	UBERON:0001416	67.03	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	66.53	silver quality
prefrontal cortex	UBERON:0000451	65.60	gold quality
skin of leg	UBERON:0001511	64.82	gold quality
amniotic fluid	UBERON:0000173	64.62	gold quality
upper arm skin	UBERON:0004263	64.25	silver quality
oocyte	CL:0000023	63.59	gold quality
stromal cell of endometrium	CL:0002255	63.34	gold quality
pleura	UBERON:0000977	62.79	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-11268	yes	1650.48
E-ANND-3	yes	3.10
E-GEOD-124858	no	29.31

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, EWSR1, GLI1, LRP3

miRNA regulators (miRDB)

147 targeting DKK2, 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-5692A	100.00	74.40	6850
HSA-MIR-1252-5P	100.00	69.80	2774
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-432-3P	100.00	67.86	705
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4775	99.98	75.00	6394
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-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-568	99.98	69.86	2084
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-507	99.97	70.11	1915

Literature-anchored findings (GeneRIF, showing 35)

• Analysis of individual Dkk domains and chimeric Dkks shows that the carboxy-terminal domains of both Dkk1 & 2 associate with LRP6 and are necessary and sufficient for Wnt8 inhibition. (PMID:12167704)
• loss of DKK expression plays a role in development or progression of malignant melanoma (PMID:16568085)
• Down-regulation of the Dkks associated to promoter hypermethylation appears to be frequently involved in gastrointestinal tumorigenesis. (PMID:18461655)
• analysis of the structural basis of the interaction between Dkk and low density lipoprotein receptor-related protein (LRP) 5/6 (PMID:18524778)
• Given the mutually exclusive expression of DKK1 and DKK2, EWS/ETS regulates the transcription of the DKK family, and the EWS/ETS-mediated DKK2 up-regulation could affect the tumorigenicity of EFT in an indirect manner (PMID:19247449)
• Dickkopf-4 and -2 are significantly upregulated in most colorectal tumors (PMID:19659606)
• DKK2 is epigenetically silenced by methylation in higher grades and stages of renal cell carcinoma; results suggest that DKK2 inhibits renal cancer progression through apoptotic and cell cycle pathways (PMID:19755393)
• Data indicate major roles for Dkk1 and the canonical Wnt pathway in early-stage differentiation, and for Dkk2 and Wnt/Ca2+-dependent signaling in late-stage differentiation on microstructured and hydrophilic surfaces, during osseointegration. (PMID:20004015)
• In the study of the genetics of alcoholism, three SNPs in DKK2 (rs427983; rs419558; rs399087) demonstrated empirical significance. (PMID:20332099)
• Elevated TGF-beta1 levels in osteoarthritic osteoblasts can stimulate DKK2 expression. (PMID:21312269)
• there are distinct functions of DKK1 and DKK2 in controlling angiogenesis (PMID:21540552)
• DKK2 may contribute to tumorigenesis in epithelial ovarian cancer(EOC) through the Wnt/beta-catenin signaling mechanisms. (PMID:22964660)
• Our results provide strong evidence that DKK2 is a key player in Ewing sarcoma invasion and osteolysis and also in the differential phenotype of Ewing sarcoma cells. (PMID:23204234)
• MiR-21 overexpression was significantly correlated with the DKK2-/beta-catenin- immunohistochemical phenotype. (PMID:23999978)
• We found 1 DKK2 SNP to be significantly associated with alcohol-related harm in alcoholic subjects (PMID:24117450)
• Data indicate that inhibiting dickkopf-related protein 2 (DKK2)with siDKK2 reduced the expression of DKK2, but had no effect on leptin expression. (PMID:25312721)
• Genetic variant in DKK2 gene is associated with gallbladder cancer. (PMID:26715268)
• the genotyping and functional findings are consistent with the hypothesis that DKK2 is a tumor suppressor; by selectively retaining a transcriptionally inactive DKK2 allele, the reduction of DKK2 function results in unchecked Wnt/beta-catenin signaling, contributing to hepatocellular carcinoma oncogenesis. (PMID:27203079)
• these findings reveal that the miR-187-5p-DKK2 pathway regulates Wnt/beta-catenin signaling, cell growth, and apoptosis. Our findings provide the first evidence of a role for miR-187-5p in promotion of B-cell ALL. (PMID:27296949)
• Knock down of the dickkopf WNT signaling pathway inhibitor 2 (DKK2) resulted in a significant suppression of HOXD10, HOXD11 and HOXD13 while over-expression of DKK2 and stimulation with factors of the WNT signaling pathway. (PMID:27363011)
• The present report suggested that DKK2 downregulation suppressed the proliferation and invasion of prostate cancer cells by inhibiting the Wnt/betacatenin signaling pathway. (PMID:27431620)
• targeting of DKK2 by miR-154 leads to upregulation of beta-catenin expression and activation of the classical Wnt signaling pathway and cardiac fibroblasts. (PMID:27542661)
• epigenetic silencing of Wnt antagonists was associated with gastric carcinogenesis, and concurrent hypermethylation of SFRP2 and DKK2 could be a potential marker for a prognosis of poor overall survival. (PMID:28152305)
• our findings demonstrate that DKK2 functions as a tumor suppressor through inhibiting cell proliferation and inducing apoptosis via regulating Wnt signaling during breast tumorigenesis. (PMID:28467796)
• Both DKK2 and sFRP4 polymorphisms are found to play a crucial role; especially for smokers towards modulating risk for lung cancer. (PMID:29749862)
• Study confirmed the low DKK1 expression in patients with grade 1 breast cancer and a high DKK1 expression in ER-negative breast cancer. DKK2 may be a potential prognostic biomarker for the Normal-like subtype of breast cancer. (PMID:30320375)
• Here, the authors found that Dickkopf associated protein 2 (DKK2), a secretory protein highly expressed in metastatic colorectal cancer tissues, could stimulate angiogenesis via a classic VEGF/VEGFR independent pathway. (PMID:30867812)
• the critical role of MEG3-miR-4261-DKK2-Wnt/beta-catenin signalling axis in ESCC (PMID:30990378)
• AWPPH inhibits GC cell proliferation and invasion via miR-203a/DKK2 axis. (PMID:31489578)
• We then confirmed these results and demonstrated that a higher expression of DKK2 imparts the recruitment of CD8(+) T cells. Our work suggested that DKK2 imparts tumor immune evasion and is associated with poor prognosis in pancreatic ductal adenocarcinoma. (PMID:31583260)
• Dickkopf 2-Expressing Adenovirus Increases the Survival of Random-Pattern Flaps and Promotes Vasculogenesis in a Rat Model. (PMID:31800554)
• miR4833p promotes the osteogenesis of human osteoblasts by targeting Dikkopf 2 (DKK2) and the Wnt signaling pathway. (PMID:32945363)
• G Protein-Coupled Estrogen Receptor Correlates With Dkk2 Expression and Has Prognostic Impact in Ovarian Cancer Patients. (PMID:33679613)
• RNAM EXPRESSION AND DNA METHYLATION OF DKK2 GENE IN COLORECTAL CANCER. (PMID:33909798)
• DKK2 promotes the progression of oral squamous cell carcinoma through the PI3K/AKT signaling pathway. (PMID:38795388)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dkk2	ENSMUSG00000028031
rattus_norvegicus	Dkk2	ENSRNOG00000011360

Protein

Protein identifiers

Dickkopf-related protein 2 — Q9UBU2 (reviewed: Q9UBU2)

All UniProt accessions (3): Q9UBU2, D6RCC2, D6RGF1

UniProt curated annotations — full annotation on UniProt →

Function. Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease.

Subunit / interactions. Interacts with LRP5 and LRP6.

Subcellular location. Secreted.

Tissue specificity. Expressed in heart, brain, skeletal muscle and lung.

Post-translational modifications. May be proteolytically processed by a furin-like protease.

Domain organisation. The C-terminal cysteine-rich domain mediates interaction with LRP5 and LRP6.

Similarity. Belongs to the dickkopf family.

RefSeq proteins (1): NP_055236* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006796	Dickkopf_N	Domain
IPR039863	DKK1-4	Family
IPR047302	Dkk2_Cys2	Domain
IPR047303	Dkk2_Cys1	Domain
IPR048499	DIKK1/2/4_C-subdom2	Domain
IPR048500	DIKK1/2/4_C-subdom1	Domain

Pfam: PF04706, PF21479, PF21481

UniProt features (11 total): disulfide bond 5, region of interest 2, signal peptide 1, chain 1, sequence variant 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBU2-F1	70.82	0.36

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (5): 183–195, 189–204, 194–231, 214–239, 233–256

Glycosylation sites (1): 52

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-201681	TCF dependent signaling in response to WNT
R-HSA-3772470	Negative regulation of TCF-dependent signaling by WNT ligand antagonists
R-HSA-5339717	Signaling by LRP5 mutants
R-HSA-9943962	CHD6, CHD7, CHD8, CHD9 subfamily

MSigDB gene sets: 196 (showing top): chr4q25, BENPORATH_ES_WITH_H3K27ME3, STAEGE_EWING_FAMILY_TUMOR, TTTGTAG_MIR520D, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, MODULE_205, MARTINEZ_RB1_TARGETS_DN, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, KONDO_COLON_CANCER_HCP_WITH_H3K27ME1, TATA_C, GOBP_POSITIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY, RYTTCCTG_ETS2_B, AFFAR_YY1_TARGETS_DN, DOUGLAS_BMI1_TARGETS_UP

GO Biological Process (5): Wnt signaling pathway (GO:0016055), negative regulation of canonical Wnt signaling pathway (GO:0090090), positive regulation of canonical Wnt signaling pathway (GO:0090263), multicellular organism development (GO:0007275), negative regulation of Wnt signaling pathway (GO:0030178)

GO Molecular Function (3): co-receptor binding (GO:0039706), receptor antagonist activity (GO:0048019), protein binding (GO:0005515)

GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Signaling by WNT	1
TCF dependent signaling in response to WNT	1
Signaling by WNT in cancer	1
CHD chromatin remodelers	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
canonical Wnt signaling pathway	2
regulation of canonical Wnt signaling pathway	2
cell surface receptor signaling pathway	1
negative regulation of Wnt signaling pathway	1
positive regulation of Wnt signaling pathway	1
multicellular organismal process	1
anatomical structure development	1
negative regulation of signal transduction	1
Wnt signaling pathway	1
regulation of Wnt signaling pathway	1
protein binding	1
signaling receptor binding	1
signaling receptor inhibitor activity	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DKK2	LRP6	O75581	998
DKK2	LRP5	O75197	998
DKK2	KREMEN1	Q96MU8	984
DKK2	DKK3	Q9UBP4	966
DKK2	WNT6	Q9Y6F9	874
DKK2	WNT2B	Q93097	840
DKK2	SOST	Q9BQB4	832
DKK2	SFRP1	Q8N474	829
DKK2	FRZB	Q92765	827
DKK2	WNT3A	P56704	815
DKK2	WIF1	Q9Y5W5	779
DKK2	FZD8	Q9H461	776
DKK2	AXIN1	O15169	752
DKK2	FZD1	Q9UP38	751
DKK2	KREMEN2	Q8NCW0	735

IntAct

8 interactions, top by confidence:

A	B	Type	Score
LRP6	DKK2	psi-mi:“MI:0407”(direct interaction)	0.590
KRTAP10-6	DKK2	psi-mi:“MI:0915”(physical association)	0.560
DKK2	LRP5	psi-mi:“MI:0914”(association)	0.350
DKK2	ZZEF1	psi-mi:“MI:0914”(association)	0.350
DKK2	KRTAP10-6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (49): DKK2 (Synthetic Growth Defect), KRTAP10-6 (Two-hybrid), ZZEF1 (Affinity Capture-MS), VSIG8 (Affinity Capture-MS), AHCYL1 (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), LRP1B (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), LRP2 (Affinity Capture-MS), SORL1 (Affinity Capture-MS), LRP6 (Affinity Capture-MS), LRP5 (Affinity Capture-MS), CENPB (Affinity Capture-MS), DSG4 (Affinity Capture-MS), RSPRY1 (Affinity Capture-MS)

ESM2 similar proteins: A6NCL2, D3ZTT2, O19131, O46655, O70280, P01177, P01178, P01179, P01180, P01183, P01185, P01186, P03973, P13389, P19438, P22298, P22934, P25118, P35454, P35455, P50555, P58658, P58659, Q02509, Q14AE4, Q32LD3, Q3URS3, Q5T700, Q68US5, Q6UWE3, Q6UWL2, Q6V9X0, Q6WN34, Q76LW6, Q86Y78, Q8BPP5, Q8BVP6, Q8N6Q3, Q8VEA6, Q8WXA2

Diamond homologs: O54908, O94907, Q8JFE6, Q8JFX8, Q8JFY0, Q8JFY1, Q8R413, Q8VEJ3, Q9QUN9, Q9QYZ8, Q9UBP4, Q9UBT3, Q9UBU2, Q8JFX9, D2Y2E1, D2Y2E2, D2Y2E3, D2Y2E6, D2Y2E7, D2Y2C0, D2Y2E0, D2Y2E4, D2Y2E5, P83893, P83997, W4VSC2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

897 predictions. Top by Δscore:

Variant	Effect	Δscore
4:106925960:G:GC	acceptor_gain	1.0000
4:106926230:AGGAC:A	donor_gain	1.0000
4:106924203:CC:C	acceptor_gain	0.9900
4:106924204:CC:C	acceptor_gain	0.9900
4:106924205:C:CG	acceptor_loss	0.9900
4:106924206:T:A	acceptor_loss	0.9900
4:106924576:T:TA	donor_gain	0.9900
4:106925784:A:AC	donor_gain	0.9900
4:106925793:TTTTA:T	donor_loss	0.9900
4:106925794:TTTA:T	donor_loss	0.9900
4:106925795:TTACC:T	donor_loss	0.9900
4:106925796:TAC:T	donor_loss	0.9900
4:106925797:A:AC	donor_gain	0.9900
4:106925797:ACCA:A	donor_loss	0.9900
4:106925798:C:A	donor_loss	0.9900
4:106925798:C:CC	donor_gain	0.9900
4:106925948:GCC:G	acceptor_loss	0.9900
4:106925949:CCTGT:C	acceptor_loss	0.9900
4:106925950:C:CC	acceptor_gain	0.9900
4:106925950:C:G	acceptor_loss	0.9900
4:106925957:C:CT	acceptor_gain	0.9900
4:106925958:A:T	acceptor_gain	0.9900
4:106925960:G:C	acceptor_gain	0.9900
4:106925972:C:CT	acceptor_gain	0.9900
4:106924205:C:CC	acceptor_gain	0.9800
4:106924240:ACTTC:A	acceptor_gain	0.9800
4:106924654:CGGGA:C	acceptor_gain	0.9800
4:106925785:G:C	donor_gain	0.9800
4:106925815:A:AC	donor_gain	0.9800
4:106925816:C:CC	donor_gain	0.9800

AlphaMissense

1691 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:106924050:G:C	F228L	1.000
4:106924050:G:T	F228L	1.000
4:106924051:A:C	F228C	1.000
4:106924052:A:G	F228L	1.000
4:106924092:A:C	C214W	1.000
4:106924093:C:G	C214S	1.000
4:106924094:A:G	C214R	1.000
4:106924094:A:T	C214S	1.000
4:106924119:T:A	K205N	1.000
4:106924119:T:G	K205N	1.000
4:106924122:G:C	C204W	1.000
4:106924123:C:G	C204S	1.000
4:106924124:A:T	C204S	1.000
4:106924134:C:A	W200C	1.000
4:106924134:C:G	W200C	1.000
4:106924167:G:C	C189W	1.000
4:106924185:G:C	C183W	1.000
4:106923966:A:C	C256W	0.999
4:106923967:C:G	C256S	0.999
4:106923967:C:T	C256Y	0.999
4:106923968:A:G	C256R	0.999
4:106923968:A:T	C256S	0.999
4:106924017:G:C	C239W	0.999
4:106924018:C:A	C239F	0.999
4:106924018:C:G	C239S	0.999
4:106924018:C:T	C239Y	0.999
4:106924019:A:G	C239R	0.999
4:106924019:A:T	C239S	0.999
4:106924035:A:C	C233W	0.999
4:106924036:C:G	C233S	0.999

dbSNP variants (sampled 300 via entrez): RS1000041025 (4:106988087 A>G), RS1000065913 (4:106981056 T>C), RS1000075555 (4:106978010 T>C), RS1000108013 (4:107020109 C>T), RS1000120413 (4:106941303 G>T), RS1000136966 (4:107037226 C>A), RS1000143005 (4:106932381 C>G), RS1000215578 (4:106969213 C>G,T), RS1000238331 (4:107036004 T>A), RS1000244099 (4:106947119 A>T), RS1000272411 (4:106953381 C>G,T), RS1000296274 (4:106947366 C>T), RS1000315818 (4:106958969 C>A,G,T), RS1000325677 (4:106959220 GT>G,GTT), RS1000332649 (4:106960328 C>A)

Disease associations

OMIM: gene MIM:605415 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002336_3	Telomere length	5.000000e-08
GCST003983_29	Male-pattern baldness	7.000000e-10
GCST004735_4	Epstein-Barr virus copy number in lymphoblastoid cell lines	1.000000e-06
GCST006138_20	Resting-state electroencephalogram vigilance	5.000000e-06
GCST006585_1905	Blood protein levels	2.000000e-83
GCST006661_69	Male-pattern baldness	2.000000e-09
GCST012489_35	Heel bone mineral density x serum urate levels interaction	4.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004357	electroencephalogram measurement
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, increases expression	3
Benzo(a)pyrene	decreases expression, decreases reaction, increases methylation	2
Lipopolysaccharides	affects expression, affects reaction, affects response to substance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	increases expression	2
bisphenol F	decreases methylation, affects cotreatment	1
testosterone enanthate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	decreases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
trichostatin A	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
deguelin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Decitabine	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acetaminophen	increases expression	1
Ascorbic Acid	decreases expression, decreases reaction, increases methylation	1
Atrazine	decreases expression	1
Buserelin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	decreases expression	1
Indomethacin	increases expression	1
Malathion	increases expression	1
Nickel	decreases expression	1
Plant Extracts	affects expression, affects reaction	1
Sodium Fluoride	decreases expression, affects reaction	1
Tetrachlorodibenzodioxin	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_B5G9	SYSUe011-A-1	Embryonic stem cell	Male

Clinical trials (associated diseases)

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