BNC2

Summary

BNC2 (basonuclin zinc finger protein 2, HGNC:30988) is a protein-coding gene on chromosome 9p22.3-p22.2, encoding Zinc finger protein basonuclin-2 (Q6ZN30). Probable transcription factor specific for skin keratinocytes.

This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis.

Source: NCBI Gene 54796 — RefSeq curated summary.

At a glance

• Gene–disease (curated): lower urinary tract obstruction, congenital (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 70
• Clinical variants (ClinVar): 354 total — 3 pathogenic
• Phenotypes (HPO): 29
• MANE Select transcript: NM_017637

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30988
Approved symbol	BNC2
Name	basonuclin zinc finger protein 2
Location	9p22.3-p22.2
Locus type	gene with protein product
Status	Approved
Aliases	BSN2, FLJ20043, bn2
Ensembl gene	ENSG00000173068
Ensembl biotype	protein_coding
OMIM	608669
Entrez	54796

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 21 protein_coding, 1 nonsense_mediated_decay

ENST00000380666, ENST00000380667, ENST00000380672, ENST00000411752, ENST00000418777, ENST00000468187, ENST00000471301, ENST00000484726, ENST00000486514, ENST00000545497, ENST00000603313, ENST00000603713, ENST00000613349, ENST00000617779, ENST00000700553, ENST00000700554, ENST00000863289, ENST00000863290, ENST00000863291, ENST00000863292, ENST00000863293, ENST00000928770

RefSeq mRNA: 3 — MANE Select: NM_017637 NM_001317939, NM_001317940, NM_017637

CCDS: CCDS6482

Canonical transcript exons

ENST00000380672 — 7 exons

Exon	Start	End
ENSE00001485816	16409503	16419649
ENSE00001797891	16738360	16738485
ENSE00001935624	16870646	16870670
ENSE00002701515	16435555	16437524
ENSE00003467734	16727797	16727997
ENSE00003713668	16552530	16552765
ENSE00003723114	16582983	16583085

Expression profiles

Bgee: expression breadth ubiquitous, 229 present calls, max score 96.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.5874 / max 201.0904, expressed in 1168 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100124	1.3830	681
100123	1.2987	574
100115	0.8044	441
100118	0.3276	145
100122	0.2941	133
100119	0.2287	93
100121	0.2222	88
100125	0.2188	100
100127	0.1837	95
100116	0.1606	66

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	96.17	gold quality
sural nerve	UBERON:0015488	93.49	gold quality
parietal pleura	UBERON:0002400	93.41	gold quality
colonic epithelium	UBERON:0000397	92.29	gold quality
hair follicle	UBERON:0002073	91.98	gold quality
pleura	UBERON:0000977	90.23	gold quality
buccal mucosa cell	CL:0002336	90.09	gold quality
ovary	UBERON:0000992	89.26	gold quality
left ovary	UBERON:0002119	89.23	gold quality
right ovary	UBERON:0002118	88.67	gold quality
myometrium	UBERON:0001296	88.51	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.25	gold quality
body of uterus	UBERON:0009853	88.12	gold quality
smooth muscle tissue	UBERON:0001135	87.93	gold quality
left uterine tube	UBERON:0001303	87.27	gold quality
trigeminal ganglion	UBERON:0001675	87.03	gold quality
tibia	UBERON:0000979	86.86	gold quality
calcaneal tendon	UBERON:0003701	86.04	gold quality
visceral pleura	UBERON:0002401	86.03	gold quality
dorsal root ganglion	UBERON:0000044	85.39	gold quality
stromal cell of endometrium	CL:0002255	84.85	gold quality
right uterine tube	UBERON:0001302	83.63	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.90	gold quality
tibial nerve	UBERON:0001323	82.35	gold quality
mucosa of paranasal sinus	UBERON:0005030	82.24	gold quality
superficial temporal artery	UBERON:0001614	81.82	gold quality
hindlimb stylopod muscle	UBERON:0004252	80.65	gold quality
muscle layer of sigmoid colon	UBERON:0035805	80.51	gold quality
endocervix	UBERON:0000458	80.27	gold quality
adult organism	UBERON:0007023	79.72	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	55.24
E-HCAD-35	yes	32.35
E-ANND-3	yes	14.48
E-HCAD-25	yes	7.73

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1928.1	BNC2	Factors with multiple dispersed zinc fingers
MA1928.2	BNC2	Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:30487138

miRNA regulators (miRDB)

358 targeting BNC2, 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-6867-5P	100.00	82.21	3464
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3924	100.00	72.09	2394
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913

Literature-anchored findings (GeneRIF, showing 23)

• the extreme conservation of the basonuclin 2 amino acid sequence across vertebrates suggests that basonuclin 2 serves an important function, presumably as a regulatory protein of DNA transcription (PMID:14988505)
• molecular cloning (PMID:15081112)
• Data show that basonuclin (Bn)2 but not bn1 colocalizes with SC35 in nuclear speckles, and may have a function in nuclear processing of mRNA. (PMID:16891417)
• transcripts are initiated from six promoters, are alternatively spliced at multiple positions, and are polyadenylated at four sites (PMID:16942855)
• Loss of BNC2 is associated with esophageal adenocarcinoma. (PMID:19670330)
• Single nucleotide polymorphism in BNC2 is associated with ovarian cancer. (PMID:20852632)
• the 4 recently reported SNPs,located near BNC2, SORCS1, GSC and WDR72 loci, affecting glycemic control in type 1 diabetes had no apparent effect on HbA1c in type 2 diabetes; but, for SORCS1 SNP, findings do not rule out possible relationship with HbA1c (PMID:21294870)
• The association of BNC2 disruption with distal urethral defects and the gene’s expression pattern indicate that it functions in urethral development. (PMID:21368915)
• results suggest that the analysed polymorphisms in the BNC2 gene are unlikely to contribute to the previously reported risk of ovarian cancer in women with endometriosis (PMID:21642636)
• Data indicate that the SNPs are located in the region of the BNC2 gene which is involved in ovarian development. (PMID:21750727)
• We identified two new skin color genes: genetic variants in UGT1A were significantly associated with hue and variants in BNC2 were significantly associated with saturation. (PMID:23052946)
• follow-up studies are necessary to establish the role of BNC2 in blood-based DNA and epithelial ovarian cancer (EOC), including prospective studies to validate this region as a potential biomarker and predictor of EOC susceptibility (PMID:24853948)
• Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene. (PMID:24916375)
• BNC2 gene mutation influencing facial pigmented spots. (PMID:25705849)
• A functional SNP leading to increased expression in BNC2 is implicated in the etiology of Adolescent Idiopathic Scoliosis. (PMID:26211971)
• Study indicates that BNC2 expression was down-regulated in hepatocellular tumors and cell lines showing a frequent gene deletion. (PMID:26821013)
• the intergenic region located around rs3814113 regulates BNC2 expression, which in turn affects cell survival after oxidative stress response. (PMID:27899818)
• This study suggests a functional role of BNC2 in the development and progression of the spinal deformity in adolescent idiopathic scoliosis. (PMID:28342042)
• The BNC2 locus is related to risk of adolescent idiopathic scoliosis globally. (PMID:29549362)
• BNC2 Mutation is associated with Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. (PMID:31051115)
• Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome. (PMID:33179741)
• Functional genomics uncovers the transcription factor BNC2 as required for myofibroblastic activation in fibrosis. (PMID:36088459)
• Basonuclin-2 regulates extracellular matrix production and degradation. (PMID:37536977)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	bnc2	ENSDARG00000069989
mus_musculus	Bnc2	ENSMUSG00000028487
rattus_norvegicus	Bnc2	ENSRNOG00000006553
drosophila_melanogaster	disco	FBGN0000459
drosophila_melanogaster	disco-r	FBGN0285879
caenorhabditis_elegans		WBGENE00044791

Paralogs (1): BNC1 (ENSG00000169594)

Protein

Protein identifiers

Zinc finger protein basonuclin-2 — Q6ZN30 (reviewed: Q6ZN30)

All UniProt accessions (14): Q6ZN30, A0A1B0GX98, A0A8V8TPU4, B1APH0, F5H586, H0Y4J1, H0Y6W5, Q06HB5, Q06HB9, Q06HC7, S4R351, S4R3K9, S4R3R8, S4R3X5

UniProt curated annotations — full annotation on UniProt →

Function. Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes. May also play an important role in early urinary-tract development.

Subcellular location. Nucleus.

Tissue specificity. Highly expressed in testis, uterus and small intestine, and weakly expressed in colon and prostate. Also expressed in skin, primary keratinocytes, immortalized keratinocytes, and HeLa and HEK293 cells. Not detected in blood, thymus, spleen or Hep-G2 cells.

Disease relevance. Lower urinary tract obstruction, congenital (LUTO) [MIM:618612] A disorder characterized by urinary bladder outflow obstruction, which can represent an anatomical blockage or a functional obstruction. The most common anatomical causes are posterior urethral valves at the level of the prostatic urethra, a lesion unique to males. Less common are anterior urethral valves, also called urethral atresia, that can occur in either sex. LUTO is an autosomal dominant disease with variable expression. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZN30-1	1	yes
Q6ZN30-2	2

RefSeq proteins (3): NP_001304868, NP_001304869, NP_060107* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR040436	Disconnected-like	Family

Pfam: PF00096, PF12874

UniProt features (39 total): region of interest 8, compositionally biased region 7, cross-link 7, sequence variant 6, zinc finger region 4, sequence conflict 3, splice variant 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZN30-F1	54.10	0.11

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 (8): 561, 277, 396, 416, 421, 641, 894, 919

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 447 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, YAATNRNNNYNATT_UNKNOWN, WWTAAGGC_UNKNOWN, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, TGCACTT_MIR519C_MIR519B_MIR519A, LFA1_Q6, GCANCTGNY_MYOD_Q6, GOBP_GROWTH, RACCACAR_AML_Q6, TGACCTY_ERR1_Q2, MEF2_02, GOBP_TONGUE_DEVELOPMENT, GOBP_BONE_GROWTH, CAGCTG_AP4_Q5

GO Biological Process (5): endochondral bone growth (GO:0003416), regulation of DNA-templated transcription (GO:0006355), tongue development (GO:0043586), roof of mouth development (GO:0060021), mesenchyme development (GO:0060485)

GO Molecular Function (5): rDNA binding (GO:0000182), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): chromatin (GO:0000785), fibrillar center (GO:0001650), nucleus (GO:0005634), nuclear body (GO:0016604)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
bone growth	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
sensory organ development	1
anatomical structure development	1
tissue development	1
animal organ development	1
sequence-specific double-stranded DNA binding	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
chromosome	1
nucleolus	1
intracellular membrane-bounded organelle	1
nucleoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1076 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BNC2	SRSF2	Q01130	772
BNC2	SLC45A2	Q9UMX9	615
BNC2	SLC24A5	Q71RS6	590
BNC2	OCA2	Q04671	578
BNC2	SP1	P08047	547
BNC2	TYR	P14679	529
BNC2	LBX1	P52954	507
BNC2	TBX15	Q96SF7	498
BNC2	POC5	Q8NA72	493
BNC2	WARS2	Q9UGM6	487
BNC2	MC1R	Q01726	480
BNC2	FBN2	P35556	474
BNC2	FBN1	P35555	473
BNC2	MTNR1B	P49286	461
BNC2	ESR2	Q92731	460

IntAct

12 interactions, top by confidence:

A	B	Type	Score
CHCHD10	CLPX	psi-mi:“MI:0914”(association)	0.640
LMO1	BNC2	psi-mi:“MI:0915”(physical association)	0.560
MAD2L1	PPIP5K2	psi-mi:“MI:0914”(association)	0.530
IRF6	IRF8	psi-mi:“MI:0914”(association)	0.500
CHCHD10	ZNF593	psi-mi:“MI:0914”(association)	0.350
ZDHHC5	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
CHCHD2	RECQL4	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
LMO1	BNC2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): BNC2 (Affinity Capture-MS), BNC2 (Affinity Capture-MS), BNC2 (Affinity Capture-RNA), BNC2 (Affinity Capture-MS), BNC2 (Two-hybrid), BNC2 (Affinity Capture-MS), BNC2 (Affinity Capture-MS), BNC2 (Affinity Capture-MS), BNC2 (Affinity Capture-MS), BNC2 (Affinity Capture-MS), BNC2 (Affinity Capture-MS), BNC2 (Affinity Capture-MS), BNC2 (Affinity Capture-MS), BNC2 (Affinity Capture-MS), BNC2 (Affinity Capture-RNA)

ESM2 similar proteins: A0A486WWJ9, A0JPB4, A1L1J6, A2VDW9, A4IFJ6, B7ZRM8, B7ZRU9, O08900, O13089, O17862, O42410, O60315, O73590, O75626, P14404, P25932, P34536, P55879, P57682, P81183, Q03112, Q03267, Q13422, Q19418, Q5DU09, Q5R9W9, Q5ZLR2, Q5ZM39, Q60636, Q60980, Q6DBW0, Q6GNP2, Q6INV8, Q6NRM0, Q6XDT4, Q6ZN30, Q86UP3, Q8BMQ3, Q8BU00, Q8I7Z8

Diamond homologs: O35914, P23792, Q01954, Q1ZXU0, Q6ZN30, Q8BMQ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	225
Likely benign	62
Benign	27

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
599348	NM_017637.6(BNC2):c.2663A>G (p.His888Arg)	Pathogenic
624566	NM_017637.6(BNC2):c.2636+499C>T	Pathogenic
981213	GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1	Pathogenic

SpliceAI

7168 predictions. Top by Δscore:

Variant	Effect	Δscore
9:16437533:C:CT	acceptor_gain	1.0000
9:16437538:C:CT	acceptor_gain	1.0000
9:16437539:A:T	acceptor_gain	1.0000
9:16531245:TAA:T	donor_gain	1.0000
9:16531246:AAA:A	donor_gain	1.0000
9:16552525:CCTAC:C	donor_loss	1.0000
9:16552526:CTACC:C	donor_loss	1.0000
9:16552527:TAC:T	donor_loss	1.0000
9:16552529:C:G	donor_loss	1.0000
9:16552597:T:TA	donor_gain	1.0000
9:16552778:C:CT	acceptor_gain	1.0000
9:16552781:C:T	acceptor_gain	1.0000
9:16552789:C:CT	acceptor_gain	1.0000
9:16552789:C:T	acceptor_gain	1.0000
9:16552790:A:T	acceptor_gain	1.0000
9:16552794:A:AC	acceptor_gain	1.0000
9:16552800:G:C	acceptor_gain	1.0000
9:16552800:G:GC	acceptor_gain	1.0000
9:16552802:G:C	acceptor_gain	1.0000
9:16552802:G:GC	acceptor_gain	1.0000
9:16552803:T:C	acceptor_gain	1.0000
9:16552803:T:TC	acceptor_gain	1.0000
9:16552809:A:AC	acceptor_gain	1.0000
9:16552809:A:C	acceptor_gain	1.0000
9:16552814:A:AC	acceptor_gain	1.0000
9:16552814:A:C	acceptor_gain	1.0000
9:16583006:CA:C	donor_gain	1.0000
9:16601056:A:AC	donor_gain	1.0000
9:16419645:TGTGT:T	acceptor_gain	0.9900
9:16419650:C:CC	acceptor_gain	0.9900

AlphaMissense

7354 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:16419023:A:G	L1089P	1.000
9:16419031:G:C	N1086K	1.000
9:16419031:G:T	N1086K	1.000
9:16419033:T:C	N1086D	1.000
9:16419037:A:C	S1084R	1.000
9:16419037:A:T	S1084R	1.000
9:16419039:T:G	S1084R	1.000
9:16419040:G:C	H1083Q	1.000
9:16419040:G:T	H1083Q	1.000
9:16419041:T:C	H1083R	1.000
9:16419042:G:C	H1083D	1.000
9:16419042:G:T	H1083N	1.000
9:16419044:C:G	R1082P	1.000
9:16419045:G:A	R1082W	1.000
9:16419045:G:C	R1082G	1.000
9:16419046:A:C	N1081K	1.000
9:16419046:A:T	N1081K	1.000
9:16419050:C:G	R1080P	1.000
9:16419052:G:C	S1079R	1.000
9:16419052:G:T	S1079R	1.000
9:16419054:T:G	S1079R	1.000
9:16419062:G:A	S1076F	1.000
9:16419063:A:G	S1076P	1.000
9:16419067:A:C	F1074L	1.000
9:16419067:A:T	F1074L	1.000
9:16419068:A:C	F1074C	1.000
9:16419068:A:G	F1074S	1.000
9:16419069:A:G	F1074L	1.000
9:16419069:A:T	F1074I	1.000
9:16419079:G:C	C1070W	1.000

dbSNP variants (sampled 300 via entrez): RS1000002299 (9:16697465 T>C), RS1000009161 (9:16460163 C>T), RS1000011165 (9:16452226 A>C,T), RS1000021904 (9:16446260 G>C), RS1000022873 (9:16784435 G>C), RS1000027889 (9:16833249 A>C), RS1000030211 (9:16681763 C>A,T), RS1000043475 (9:16765931 C>A,T), RS1000048244 (9:16754710 A>C), RS1000052953 (9:16446069 C>A,T), RS1000060167 (9:16769820 G>A), RS1000069703 (9:16511617 C>T), RS1000070344 (9:16543152 G>A), RS1000071002 (9:16617215 GAACAAACA>G,GAACA), RS1000071798 (9:16492237 T>A)

Disease associations

OMIM: gene MIM:608669 | disease phenotypes: MIM:618612, MIM:104500, MIM:158170

GenCC curated gene-disease

Disease	Classification	Inheritance
lower urinary tract obstruction, congenital	Definitive	Autosomal dominant
posterior urethral valve	Supportive	Autosomal recessive

Mondo (5): hypotensive disorder (MONDO:0005468), lower urinary tract obstruction, congenital (MONDO:0032833), amelogenesis imperfecta (MONDO:0019507), chromosome 9p deletion syndrome (MONDO:0008013), posterior urethral valve (MONDO:0019640)

Orphanet (2): Amelogenesis imperfecta (Orphanet:88661), Monosomy 9p syndrome (Orphanet:261112)

HPO phenotypes

29 total (30 of 29 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000015	Bladder diverticulum
HP:0000016	Urinary retention
HP:0000020	Urinary incontinence
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000093	Proteinuria
HP:0000110	Renal dysplasia
HP:0000126	Hydronephrosis
HP:0000790	Hematuria
HP:0000822	Hypertension
HP:0001254	Lethargy
HP:0001562	Oligohydramnios
HP:0002009	Potter facies
HP:0002027	Abdominal pain
HP:0003419	Low back pain
HP:0003774	Stage 5 chronic kidney disease
HP:0006703	Aplasia/Hypoplasia of the lungs
HP:0008661	Urethral stenosis
HP:0010945	Fetal pyelectasis
HP:0010955	Dilatation of the bladder
HP:0010956	Fetal megacystis
HP:0010957	Congenital posterior urethral valve
HP:0012330	Pyelonephritis
HP:0012622	Chronic kidney disease
HP:0041047	Bladder outlet obstruction
HP:0100515	Pollakisuria
HP:0100518	Dysuria
HP:0002615	Hypotension

GWAS associations

70 associations (top):

Study	Trait	p-value
GCST000455_1	Ovarian cancer	5.000000e-19
GCST000708_1	Freckling	4.000000e-10
GCST000817_17	Height	2.000000e-08
GCST002118_21	Metabolite levels (Pyroglutamine)	7.000000e-07
GCST002120_14	Metabolite levels (Dihydroxy docosatrienoic acid)	9.000000e-07
GCST002579_33	Heschl’s gyrus morphology	9.000000e-06
GCST002748_1	Epithelial ovarian cancer	6.000000e-50
GCST002949_8	Epilepsy and lamotrigine-induced maculopapular eruptions	7.000000e-07
GCST003052_1	Adolescent idiopathic scoliosis	5.000000e-08
GCST003052_3	Adolescent idiopathic scoliosis	2.000000e-13
GCST003265_309	Post bronchodilator FEV1/FVC ratio in COPD	1.000000e-07
GCST003327_10	Squamous cell carcinoma	8.000000e-09
GCST003485_2	Response to fenofibrate (HDL cholesterol levels)	9.000000e-06
GCST003655_8	Cutaneous squamous cell carcinoma	1.000000e-08
GCST003726_21	Basal cell carcinoma	2.000000e-17
GCST003989_26	Chin dimples	2.000000e-13
GCST004899_3	Gestational age at birth (maternal effect)	5.000000e-07
GCST005897_38	Low tan response	2.000000e-59
GCST006075_9	Hair color	2.000000e-44
GCST006091_2	Freckles	2.000000e-22
GCST006288_480	Heel bone mineral density	9.000000e-06
GCST006288_666	Heel bone mineral density	5.000000e-10
GCST006629_68	Pulse pressure	1.000000e-10
GCST006902_4	Adolescent idiopathic scoliosis	7.000000e-10
GCST006979_155	Heel bone mineral density	4.000000e-10
GCST006979_156	Heel bone mineral density	2.000000e-19
GCST006979_157	Heel bone mineral density	6.000000e-23
GCST006988_54	Blond vs. brown/black hair color	1.000000e-32
GCST006988_58	Blond vs. brown/black hair color	5.000000e-22
GCST006989_13	Brown vs. black hair color	1.000000e-18

EFO canonical traits (29, from GWAS)

EFO ID	Trait name
EFO:0003963	freckles
EFO:0005408	pyroglutamine measurement
EFO:0005275	dihydroxy docosatrienoic acid measurement
EFO:1001253	maculopapular eruption
EFO:0004713	FEV/FVC ratio
EFO:0007805	HDL cholesterol change measurement
EFO:1001927	cutaneous squamous cell carcinoma
EFO:0005112	gestational age
EFO:0005939	parental genotype effect measurement
EFO:0004279	suntan
EFO:0009270	heel bone mineral density
EFO:0005763	pulse pressure measurement
EFO:0003924	hair color
EFO:1002006	treatment-resistant hypertension
EFO:0004341	body fat distribution
EFO:0008579	risk-taking behaviour
EFO:0007789	BMI-adjusted waist circumference
EFO:0004517	arterial stiffness measurement
EFO:0005670	smoking initiation
EFO:0010176	keratinocyte carcinoma
EFO:0004531	urate measurement
EFO:0004530	triglyceride measurement
EFO:0010725	aseptic loosening
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004615	apolipoprotein B measurement
EFO:0004980	appendicular lean mass
EFO:0009749	age at first sexual intercourse measurement
EFO:0009101	age at first birth measurement
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D000567	Amelogenesis Imperfecta	C07.650.800.295.250; C07.793.700.295.250; C16.131.850.800.295.250
D007022	Hypotension	C14.907.514
C538024	Chromosome 9p Deletion Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases methylation	5
sodium arsenite	decreases expression, increases abundance, affects cotreatment, increases expression	3
Tretinoin	increases expression	3
methylmercuric chloride	decreases expression	2
bisphenol A	increases methylation, increases expression, affects methylation, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
belinostat	increases expression, affects cotreatment	2
Panobinostat	increases expression, affects cotreatment	2
Air Pollutants	decreases expression, increases abundance	2
Benzo(a)pyrene	decreases methylation, increases expression, increases methylation	2
Cisplatin	affects cotreatment, decreases expression, affects expression	2
Dexamethasone	decreases expression, affects cotreatment, increases expression	2
Formaldehyde	decreases expression	2
Nickel	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, decreases methylation	1
triphenyl phosphate	affects expression	1
lead acetate	affects cotreatment, increases expression	1
trichostatin A	increases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
potassium chromate(VI)	decreases expression	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	decreases expression	1
3-nitrobenzanthrone	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00115726	PHASE4	COMPLETED	Trial Assessing the Effect of Preoperative Furosemide on Intraoperative Blood Pressure
NCT00173706	PHASE4	UNKNOWN	Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis
NCT00694343	PHASE4	COMPLETED	Efficacy of Voluven® for the Prevention of Hypotension During Spinal Anesthesia for Cesarean Section
NCT00777166	PHASE4	COMPLETED	Cardiac Effects of Oxytocin Administrated During Cesarean Section, Signs of Myocardial Ischemia
NCT00781157	PHASE4	COMPLETED	Phenylephrine for Spinal Induced Hypotension
NCT00846651	PHASE4	COMPLETED	Spinal Anesthesia Induced Hypotension During Cesarean Section
NCT00922844	PHASE4	TERMINATED	The Effect of Sevoflurane Versus Isoflurane on Vasopressor Need
NCT00991627	PHASE4	COMPLETED	Different Approaches to Maternal Hypotension During Cesarean Section
NCT00996190	PHASE4	COMPLETED	Best Regimen for Phenylephrine Administration During Cesarean Section
NCT01067391	PHASE4	COMPLETED	Effect of Tadalafil (Cialis) on the Cardiovascular System of Spinal Cord Injury (SCI) Males
NCT01414842	PHASE4	COMPLETED	HFR A-equilibrium on Cardiovascular Stability
NCT01415284	PHASE4	UNKNOWN	ED50 Determination of Hydroxyethylstarch for Treatment of Hypotension During Cesarean Section Under Spinal Anesthesia
NCT01418118	PHASE4	COMPLETED	Assessment of the Effects of Pressors on Graft Blood Flow After Free Tissue Transfer Surgery
NCT01481740	PHASE4	COMPLETED	Preventing Hypotension in Parturients With an Elevated Body Mass Index (BMI)
NCT01549223	PHASE4	COMPLETED	Oxytocin And Uterotonic Agent Use For Cesarean Delivery
NCT02004834	PHASE4	ACTIVE_NOT_RECRUITING	Levobupivacaine and Lidocaine for Paravertebral Block Causes Greater Hemodynamic Oscillations Than Levobupivacaine
NCT02135146	PHASE4	COMPLETED	Evaluating Fluid Strategies in Thoracic Surgery Patients Utilizing a Goal Directed Approach
NCT02323399	PHASE4	RECRUITING	Study to Determine the Pharmacokinetics and Pharmacodynamic Effects of Phenylephrine on BP Via IV
NCT02393196	PHASE4	UNKNOWN	Colloid Preload Versus Colloid Coload During Cesarean Deliveries
NCT02477501	PHASE4	COMPLETED	Ephedrine vs. Nor Epinephrine Infusion in Preventing Hypotension After Spinal Anesthesia for Cesarean Section
NCT02737813	PHASE4	COMPLETED	Cardiac Output Changes During Hyperbaric and Isobaric Bupivacaine in Patients Undergoing Cesarean Section
NCT02771158	PHASE4	WITHDRAWN	Midodrine During Recovery From Septic Shock
NCT02802683	PHASE4	COMPLETED	Hemodynamic Impact of Hyperbaric Versus Isobaric for Spinal Anesthesia During Cesarean Delivery
NCT02854787	PHASE4	COMPLETED	Intravenous Bolus of Phenylephrine vs. Norepinephrine in Preventing Hypotension After Spinal Anesthesia
NCT02913768	PHASE4	COMPLETED	Reduction in Spinal-induced Hypotension With Ondansetron in Parturients Undergoing Caesarean Section
NCT02969239	PHASE4	UNKNOWN	Norepinephrine and Phenylephrine for Maternal Cardiac Output During Spinal Anesthesia for Elective Cesarean Delivery
NCT03595319	PHASE4	UNKNOWN	Median Sevoflurane Concentration for Hypotension Between Young and Elderlypatients: Adaptive Clinical Trial
NCT03602014	PHASE4	COMPLETED	Dose Response to the Norepinephrine Precursor Droxidopa in Hypotensive Individuals With Spinal Cord Injury
NCT03664037	PHASE4	COMPLETED	Dexamethasone Blunts the Hypotensive Effect of Spinal Anesthesia in Geriatric Patients Undergoing Lower Limb Orthopedic Surgeries
NCT03704909	PHASE4	COMPLETED	Manging Post Spinal Hypotension During Elective Cesarean Section
NCT03706755	PHASE4	COMPLETED	Comparison of Two Doses of Norepinephrine in Preventing Hypotension After Spinal Anesthesia
NCT03973411	PHASE4	UNKNOWN	Ondansetron in the Prevention of Hypotension in Patients Undergoing Spinal Anesthesia
NCT04529005	PHASE4	COMPLETED	Angiotensin II in the Perioperative Management of Hypotension in Kidney Transplant Recipients
NCT04575675	PHASE4	COMPLETED	Dapagliflozin on Hypotensive Heart Failure Patients After Sacubitril/Valsartan Therapy
NCT04701190	PHASE4	COMPLETED	Different Noradrenaline Protocols in Post Spinal Hypotension in CS
NCT04705896	PHASE4	RECRUITING	Albumin To Enhance Recovery After Acute Kidney Injury
NCT04789330	PHASE4	COMPLETED	Norepinephrine vs Phenylephrine During General Anesthesia
NCT04908592	PHASE4	COMPLETED	Efficacy of Dexamethasone in Attenuation of Postinduction Hypotension in Geriatric Patients Undergoing General Anesthesia
NCT05166330	PHASE4	UNKNOWN	Two Ratios of Propofol-ketamine Admixture for Rapid-sequence Induction Anesthesia for Emergency Laparotomy
NCT05248932	PHASE4	COMPLETED	Norepinephrine to Prevent Hypotension in Ceasrean Delivery