NMU

Summary

NMU (neuromedin U, HGNC:7859) is a protein-coding gene on chromosome 4q12, encoding Neuromedin-U (P48645). Ligand for receptors NMUR1 and NMUR2.

This gene encodes a member of the neuromedin family of neuropeptides. The encoded protein is a precursor that is proteolytically processed to generate a biologically active neuropeptide that plays a role in pain, stress, immune-mediated inflammatory diseases and feeding regulation. Increased expression of this gene was observed in renal, pancreatic and lung cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. Some of these isoforms may undergo similar processing to generate the mature peptide.

Source: NCBI Gene 10874 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_006681

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7859
Approved symbol	NMU
Name	neuromedin U
Location	4q12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000109255
Ensembl biotype	protein_coding
OMIM	605103
Entrez	10874

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000264218, ENST00000505262, ENST00000507338, ENST00000509371, ENST00000511469, ENST00000515325, ENST00000920357, ENST00000920358, ENST00000920359, ENST00000920360, ENST00000920361, ENST00000920362, ENST00000920363, ENST00000968007

RefSeq mRNA: 3 — MANE Select: NM_006681 NM_001292045, NM_001292046, NM_006681

CCDS: CCDS3501, CCDS75125, CCDS77914

Canonical transcript exons

ENST00000264218 — 10 exons

Exon	Start	End
ENSE00000716252	55607298	55607348
ENSE00001032399	55595231	55595411
ENSE00001074575	55636081	55636298
ENSE00003462992	55605275	55605349
ENSE00003472151	55609120	55609179
ENSE00003501425	55599142	55599181
ENSE00003510436	55630402	55630460
ENSE00003568613	55607437	55607466
ENSE00003602337	55600522	55600575
ENSE00003677054	55616338	55616385

Expression profiles

Bgee: expression breadth ubiquitous, 201 present calls, max score 97.76.

FANTOM5 (CAGE): breadth broad, TPM avg 11.4794 / max 656.8277, expressed in 607 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
52175	9.7221	546
52176	1.2734	289
52174	0.3382	170
52178	0.0919	57
52177	0.0538	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tongue squamous epithelium	UBERON:0006919	97.76	gold quality
gingiva	UBERON:0001828	96.98	gold quality
gingival epithelium	UBERON:0001949	96.93	gold quality
lower esophagus mucosa	UBERON:0035834	96.51	gold quality
esophagus mucosa	UBERON:0002469	95.78	gold quality
pharyngeal mucosa	UBERON:0000355	94.21	gold quality
oral cavity	UBERON:0000167	93.84	gold quality
squamous epithelium	UBERON:0006914	92.65	gold quality
buccal mucosa cell	CL:0002336	92.54	gold quality
upper arm skin	UBERON:0004263	92.53	gold quality
mammalian vulva	UBERON:0000997	91.94	gold quality
cervix epithelium	UBERON:0004801	91.82	gold quality
epithelium of esophagus	UBERON:0001976	91.20	gold quality
esophagus squamous epithelium	UBERON:0006920	91.13	gold quality
ventricular zone	UBERON:0003053	91.02	gold quality
body of tongue	UBERON:0011876	90.18	gold quality
skin of hip	UBERON:0001554	90.05	gold quality
cervix squamous epithelium	UBERON:0006922	90.00	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.69	gold quality
penis	UBERON:0000989	89.34	gold quality
upper leg skin	UBERON:0004262	89.09	gold quality
nasal cavity epithelium	UBERON:0005384	88.12	gold quality
zone of skin	UBERON:0000014	87.70	gold quality
skin of leg	UBERON:0001511	87.51	gold quality
skin of abdomen	UBERON:0001416	87.33	gold quality
nipple	UBERON:0002030	86.53	gold quality
periodontal ligament	UBERON:0008266	84.25	gold quality
tongue	UBERON:0001723	83.72	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.20	gold quality
vagina	UBERON:0000996	81.27	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-10485	yes	289.30
E-CURD-114	yes	149.48
E-MTAB-3929	yes	109.68
E-GEOD-99795	yes	68.79
E-ANND-3	yes	15.00
E-MTAB-9388	yes	12.85
E-GEOD-36552	no	108.01

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYB, VHL

miRNA regulators (miRDB)

16 targeting NMU, 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-4775	99.98	75.00	6394
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-8061	99.63	69.44	1411
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-421	98.90	67.04	1883
HSA-MIR-513B-3P	98.76	68.12	1577
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-5691	98.23	67.02	1335
HSA-MIR-6805-3P	98.23	67.02	1334
HSA-MIR-10395-3P	98.10	66.70	1726

Literature-anchored findings (GeneRIF, showing 24)

• These results suggest that NMU plays a role in feeding behavior and catabolic functions via corticotropin-releasing hormone. (PMID:14623274)
• NmU expression is related to Myb and that the NmU/NMU1R axis constitutes a previously unknown growth-promoting autocrine loop in myeloid leukemia cells (PMID:15187020)
• irreversible binding of NmU to its receptors (PMID:15331768)
• Overexpression of neuromedin U is associated with bladder tumor formation, lung metastasis and cancer cachexia (PMID:16878152)
• Amino acid variants in NMU associate with overweight and obesity, suggesting that NMU is involved in energy regulation in humans. (PMID:16984985)
• NMU & its cancer-specific receptors, as well as its target genes, are frequently overexpressed in clinical samples of lung cancer and in cell lines, and that those gene products play indispensable roles in the growth and progression of lung cancer cells. (PMID:17018595)
• NmU may be involved in the HGF-c-Met paracrine loop regulating cell migration, invasiveness and dissemination of pancreatic ductal adenocarcinoma. (PMID:19118941)
• [review] Taken together with its vascular actions, NMU may be a functional link between energy balance and the cardiovascular system and may provide a future target for therapies directed against the disorders that comprise metabolic syndrome. (PMID:19519756)
• Inactivation of the von Hippel-Lindau tumour suppressor gene induces Neuromedin U expression in renal cancer cells. (PMID:21791076)
• a role for NMU gene through interaction with ADRB2 gene in bone strength regulation (PMID:23936460)
• our results defined NmU as a candidate drug response biomarker for HER2-overexpressing cancers and as a candidate therapeutic target to limit metastatic progression and improve the efficacy of HER-targeted drugs. (PMID:24876102)
• polymorphisms in the gene may be useful in identifying women at risk for osteoporosis. (PMID:25871004)
• Overexpression of Nmu may be involved in the process of regional metastasis of HNSCC, and may serve as a novel and valuable biomarker for predicting regional metastasis in patients with HNSCC. (PMID:27279246)
• This study shows an association between a NMU haplotype and anthropometric indices, mainly linked to fat mass, which appears to be age- and sex-specific in children. (PMID:28235053)
• Results indicate a mechanism of action for neuromedin U (NmU) in HER2-overexpressing breast cancer that enhances resistance to HER2-targeted drugs through conferring cancer stem cell (CSC) characteristics and expansion of the CSC phenotype. (PMID:28340506)
• NMU might contribute to progression of NMUR2-positive breast cancer (PMID:28423716)
• The anti-tumorigenic effect of HAND2-AS1 in endometrioid endometrial carcinoma was mediated by down-regulating neuromedin U expression. (PMID:29107108)
• Results identified NMU as highly expressed in non-small cell lung cancer (NSCLC) tissues and cell lines. Furthermore, integrative bioinformatics analyses demonstrate that NMU may confer the alectinib resistance in NSCLC via multiple mechanisms. (PMID:30096454)
• Association between variants of neuromedin U gene and taste thresholds and food preferences in European children: Results from the IDEFICS study. (PMID:31326439)
• The prognostic value of neuromedin U in patients with hepatocellular carcinoma. (PMID:32013887)
• Neuromedin U contributes to radiation resistance in colorectal cancer via YAP/TAZ signaling activation. (PMID:37594135)
• To be or not to be direct: The role of neuromedin U in neuro-eosinophil crosstalk. (PMID:38071108)
• Neuromedin U regulates the anti-tumor activity of CD8[+] T cells and glycolysis of tumor cells in the tumor microenvironment of pancreatic ductal adenocarcinoma in an NMUR1-dependent manner. (PMID:38071753)
• Expression of NMU and NMUR1 in tryptase-positive mast cells and PBLs in allergic rhinitis patients’ nasal mucosa. (PMID:38378005)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	nmu	ENSDARG00000043299
mus_musculus	Nmu	ENSMUSG00000029236
rattus_norvegicus	Nmu	ENSRNOG00000002164

Protein

Protein identifiers

Neuromedin-U — P48645 (reviewed: P48645)

All UniProt accessions (5): P48645, A0A0B4J202, A0A250SH36, D6RBC9, E9PDJ7

UniProt curated annotations — full annotation on UniProt →

Function. Ligand for receptors NMUR1 and NMUR2. Stimulates muscle contractions of specific regions of the gastrointestinal tract. In humans, NmU stimulates contractions of the ileum and urinary bladder. Does not function as a ligand for either NMUR1 or NMUR2. Indirectly induces prolactin release although its potency is much lower than that of neuromedin precursor-related peptide 36. Does not function as a ligand for either NMUR1 or NMUR2. Indirectly induces prolactin release from lactotroph cells in the pituitary gland, probably via the hypothalamic dopaminergic system.

Subcellular location. Secreted.

Tissue specificity. Expressed throughout the enteric nervous system with highest levels being found in the jejunum.

Similarity. Belongs to the NmU family.

RefSeq proteins (3): NP_001278974, NP_001278975, NP_006672* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008200	NMU_C	Domain
IPR018070	Neuromedin-U_amidation-site	PTM
IPR042384	NMU	Family

Pfam: PF02070

UniProt features (11 total): peptide 3, propeptide 2, modified residue 2, sequence variant 2, signal peptide 1, strand 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7W55	ELECTRON MICROSCOPY	2.8
7W53	ELECTRON MICROSCOPY	3.2
7XK8	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P48645-F1	62.98	0.00

Antibody-complex structures (SAbDab): 2 — 7W53, 7W55

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): 139, 166

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-375276	Peptide ligand-binding receptors
R-HSA-416476	G alpha (q) signalling events
R-HSA-418594	G alpha (i) signalling events

MSigDB gene sets: 264 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GOBP_CIRCADIAN_RHYTHM, RNGTGGGC_UNKNOWN, GOBP_DIGESTION, MODULE_92, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_ACID_SECRETION, GOBP_BEHAVIOR, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_PHOTOPERIODISM, JAEGER_METASTASIS_DN, ZHAN_MULTIPLE_MYELOMA_MF_UP, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION

GO Biological Process (25): temperature homeostasis (GO:0001659), gastric acid secretion (GO:0001696), positive regulation of systemic arterial blood pressure (GO:0003084), G protein-coupled receptor signaling pathway (GO:0007186), positive regulation of cytosolic calcium ion concentration (GO:0007204), neuropeptide signaling pathway (GO:0007218), photoperiodism (GO:0009648), positive regulation of heart rate (GO:0010460), positive regulation of heat generation (GO:0031652), eating behavior (GO:0042755), regulation of circadian sleep/wake cycle, sleep (GO:0045187), positive regulation of smooth muscle contraction (GO:0045987), positive regulation of synaptic transmission (GO:0050806), negative regulation of gastric acid secretion (GO:0060455), energy homeostasis (GO:0097009), negative regulation of gastric emptying (GO:0120061), positive regulation of stomach fundus smooth muscle contraction (GO:0120069), positive regulation of prolactin secretion (GO:1902722), negative regulation of eating behavior (GO:1903999), positive regulation of sensory perception of pain (GO:1904058), regulation of grooming behavior (GO:2000821), regulation of smooth muscle contraction (GO:0006940), positive regulation of hormone secretion (GO:0046887), regulation of feeding behavior (GO:0060259), negative regulation of feeding behavior (GO:2000252)

GO Molecular Function (5): signaling receptor binding (GO:0005102), type 1 neuromedin U receptor binding (GO:0031839), type 2 neuromedin U receptor binding (GO:0031840), neuromedin U receptor binding (GO:0042922), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), terminal bouton (GO:0043195)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
GPCR downstream signalling	2
Class A/1 (Rhodopsin-like receptors)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
multicellular organismal-level homeostasis	2
negative regulation of digestive system process	2
neuromedin U receptor binding	2
digestive system process	1
acid secretion	1
regulation of systemic arterial blood pressure	1
positive regulation of blood pressure	1
G protein-coupled receptor activity	1
signal transduction	1
regulation of biological quality	1
G protein-coupled receptor signaling pathway	1
response to light stimulus	1
regulation of heart rate	1
positive regulation of heart contraction	1
heat generation	1
regulation of heat generation	1
positive regulation of multicellular organismal process	1
feeding behavior	1
regulation of circadian sleep/wake cycle	1
circadian sleep/wake cycle, sleep	1
smooth muscle contraction	1
regulation of smooth muscle contraction	1
positive regulation of muscle contraction	1
chemical synaptic transmission	1
positive regulation of cell communication	1
positive regulation of signaling	1
modulation of chemical synaptic transmission	1
gastric acid secretion	1
negative regulation of secretion	1
regulation of gastric acid secretion	1
gastric emptying	1
regulation of gastric emptying	1
stomach fundus smooth muscle contraction	1
regulation of stomach fundus smooth muscle contraction	1
positive regulation of gastro-intestinal system smooth muscle contraction	1
positive regulation of protein secretion	1
prolactin secretion	1
positive regulation of peptide hormone secretion	1
eating behavior	1
regulation of eating behavior	1

Protein interactions and networks

STRING

1290 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NMU	NMUR2	Q9GZQ4	999
NMU	NMUR1	Q9HB89	999
NMU	GHSR	Q92847	760
NMU	NTS	P30990	700
NMU	GAL	P22466	680
NMU	GHRL	Q9UBU3	674
NMU	MLN	P12872	656
NMU	NTSR1	P30989	644
NMU	NPS	P0C0P6	631
NMU	NPY	P01303	613
NMU	QRFP	P83859	611
NMU	VIPR2	P41587	606
NMU	NTSR2	O95665	602
NMU	POMC	P01189	599
NMU	LEP	P41159	583

IntAct

142 interactions, top by confidence:

A	B	Type	Score
NMU	KRTAP5-9	psi-mi:“MI:0915”(physical association)	0.720
KRTAP5-9	NMU	psi-mi:“MI:0915”(physical association)	0.720
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
NOTCH2NLA	NMU	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	NMU	psi-mi:“MI:0915”(physical association)	0.560
NMU	KRTAP10-6	psi-mi:“MI:0915”(physical association)	0.560
KRT34	NMU	psi-mi:“MI:0915”(physical association)	0.560
NMU	DCDC2	psi-mi:“MI:0915”(physical association)	0.560
NMU	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	NMU	psi-mi:“MI:0915”(physical association)	0.560
NMU	KRTAP12-3	psi-mi:“MI:0915”(physical association)	0.560
NMU	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
NMU	KRTAP1-5	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-3	NMU	psi-mi:“MI:0915”(physical association)	0.560
NMU	ATN1	psi-mi:“MI:0915”(physical association)	0.560
KLK6	NMU	psi-mi:“MI:0915”(physical association)	0.560
NMU	PTGS1	psi-mi:“MI:0915”(physical association)	0.560
MGAT4C	GXYLT2	psi-mi:“MI:0914”(association)	0.530
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
IL20RB	B4GALT5	psi-mi:“MI:0914”(association)	0.530

BioGRID (103): NMU (Two-hybrid), NOTCH2NL (Two-hybrid), NMU (Affinity Capture-MS), NMU (Affinity Capture-MS), NMU (Affinity Capture-MS), NMU (Affinity Capture-MS), NMU (Two-hybrid), NMU (Affinity Capture-MS), NMU (Affinity Capture-MS), NMU (Affinity Capture-MS), NMU (Affinity Capture-MS), NMU (Affinity Capture-MS), NMU (Affinity Capture-MS), NMU (Affinity Capture-MS), NMU (Affinity Capture-MS)

ESM2 similar proteins: A0A1L2F565, B3IWF8, O09163, O57312, O73812, O93464, P01189, P01193, P01194, P01256, P01355, P01356, P04089, P06307, P06881, P07660, P09240, P10092, P10093, P10286, P12760, P23362, P37042, P41520, P45656, P48645, P55247, P81564, P81872, P87352, Q28588, Q75V93, Q75V94, Q766Y6, Q766Y7, Q805D3, Q862B1, Q90Y63, Q91082, Q99JA0

Diamond homologs: P12760, P48645, P81872, Q0VBW8, Q5H8A1, Q5H8A2, Q5H8A3, Q9QXK8, P20056, P34963, P34964, P34965, P34962, Q1HA14, Q1HA20, Q4QXT8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 140 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.

GO biological processes:

GO term	Partners	Fold	FDR
glycoprotein biosynthetic process	7	20.7×	4e-05
insulin secretion	5	18.9×	3e-03
humoral immune response	5	12.3×	8e-03
immune response	11	4.5×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1438 predictions. Top by Δscore:

Variant	Effect	Δscore
4:55600520:AC:A	donor_gain	1.0000
4:55600521:CC:C	donor_gain	1.0000
4:55607349:C:CC	acceptor_gain	1.0000
4:55609114:GCTTA:G	donor_loss	1.0000
4:55609115:CTTA:C	donor_loss	1.0000
4:55609116:TTAC:T	donor_loss	1.0000
4:55609117:TA:T	donor_loss	1.0000
4:55609118:ACC:A	donor_loss	1.0000
4:55609177:TGC:T	acceptor_gain	1.0000
4:55609178:GC:G	acceptor_gain	1.0000
4:55609178:GCCTA:G	acceptor_loss	1.0000
4:55609179:CC:C	acceptor_gain	1.0000
4:55609180:C:CC	acceptor_gain	1.0000
4:55609181:T:A	acceptor_loss	1.0000
4:55609184:C:CT	acceptor_gain	1.0000
4:55609185:A:T	acceptor_gain	1.0000
4:55630396:CCTTA:C	donor_loss	1.0000
4:55630397:CTTA:C	donor_loss	1.0000
4:55630398:TTA:T	donor_loss	1.0000
4:55630399:TACCT:T	donor_loss	1.0000
4:55630401:C:CG	donor_loss	1.0000
4:55630401:CCT:C	donor_gain	1.0000
4:55630460:CCTA:C	acceptor_loss	1.0000
4:55630461:C:CC	acceptor_gain	1.0000
4:55630461:C:CG	acceptor_loss	1.0000
4:55636077:TTACC:T	donor_loss	1.0000
4:55636078:TACC:T	donor_loss	1.0000
4:55636079:A:AT	donor_loss	1.0000
4:55600516:ACCT:A	donor_loss	0.9900
4:55600518:CTAC:C	donor_loss	0.9900

AlphaMissense

1116 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:55607346:G:C	F104L	0.983
4:55607346:G:T	F104L	0.983
4:55607348:A:G	F104L	0.983
4:55607340:A:C	F106L	0.982
4:55607340:A:T	F106L	0.982
4:55607342:A:G	F106L	0.982
4:55600525:G:C	F162L	0.970
4:55600525:G:T	F162L	0.970
4:55600527:A:G	F162L	0.970
4:55607347:A:C	F104C	0.968
4:55607347:A:G	F104S	0.964
4:55607344:A:G	L105S	0.953
4:55600531:A:C	F160L	0.951
4:55600531:A:T	F160L	0.951
4:55600533:A:G	F160L	0.951
4:55607341:A:C	F106C	0.950
4:55607341:A:G	F106S	0.947
4:55605330:A:G	L127S	0.945
4:55605335:A:C	H125Q	0.944
4:55605335:A:T	H125Q	0.944
4:55605336:T:C	H125R	0.940
4:55607339:G:C	H107D	0.938
4:55609153:G:C	C82W	0.934
4:55609155:A:G	C82R	0.934
4:55607440:T:A	K102N	0.929
4:55607440:T:G	K102N	0.929
4:55616373:A:G	C62R	0.928
4:55607441:T:A	K102I	0.926
4:55600522:C:A	R163S	0.924
4:55600522:C:G	R163S	0.924

dbSNP variants (sampled 300 via entrez): RS1000042498 (4:55608438 T>C), RS10000512 (4:55602855 C>A), RS10000850 (4:55634211 A>G,T), RS1000142990 (4:55601201 C>A), RS1000283026 (4:55633257 G>A), RS1000300114 (4:55634438 G>C), RS10003885 (4:55634890 T>A,C,G), RS1000519973 (4:55608822 G>A,C), RS1000565370 (4:55605802 T>C), RS1000618811 (4:55634783 G>A,C), RS1000687461 (4:55596038 T>C), RS1000854931 (4:55615719 C>T), RS1000873412 (4:55629525 G>T), RS1000886198 (4:55615940 G>A), RS1000993041 (4:55619096 T>C)

Disease associations

OMIM: gene MIM:605103 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST002782_18	Waist-to-hip ratio adjusted for body mass index	5.000000e-08
GCST002782_19	Waist-to-hip ratio adjusted for body mass index	2.000000e-07
GCST003518_83	Daytime sleep phenotypes	6.000000e-06
GCST005956_16	Waist-to-hip ratio adjusted for BMI	7.000000e-06
GCST005959_28	Waist-to-hip ratio adjusted for BMI x sex interaction	1.000000e-06
GCST005962_39	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	2.000000e-06
GCST006586_11	Urinary albumin excretion	4.000000e-08
GCST008794_56	Urinary albumin-to-creatinine ratio	6.000000e-09
GCST009640_19	Urinary albumin-to-creatinine ratio	4.000000e-08
GCST010307_3	Urinary albumin excretion	7.000000e-10
GCST010699_101	Brain morphology (min-P)	1.000000e-11
GCST010701_29	Cortical surface area (MOSTest)	2.000000e-31
GCST010702_108	Subcortical volume (MOSTest)	1.000000e-09
GCST010703_345	Brain morphology (MOSTest)	4.000000e-10
GCST90020025_323	Waist-to-hip ratio adjusted for BMI	5.000000e-15
GCST90020026_287	Hip index	6.000000e-12
GCST90020027_1898	Waist-hip index	9.000000e-16
GCST90020027_1899	Waist-hip index	4.000000e-08
GCST90020028_1934	Hip circumference adjusted for BMI	2.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007828	daytime rest measurement
EFO:0008343	sex interaction measurement
EFO:0008007	age at assessment
EFO:0004285	albuminuria
EFO:0007778	urinary albumin to creatinine ratio
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
sodium arsenite	increases expression, affects expression, decreases expression	3
trichostatin A	increases expression	2
arsenite	affects binding, increases reaction, increases methylation	2
Resveratrol	affects cotreatment, increases expression	2
Copper	affects cotreatment, increases expression, affects binding, decreases expression	2
Estradiol	increases expression, affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Aflatoxin B1	affects expression, increases methylation	2
sodium arsenate	decreases expression, increases abundance	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression, decreases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
nickel sulfate	decreases expression	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
entinostat	increases expression	1
monomethylarsonous acid	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
ICG 001	decreases expression	1
14-deoxy-11,12-didehydroandrographolide	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid	decreases expression	1
NSC 689534	affects binding, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Temozolomide	increases expression	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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