BBIP1

Summary

BBIP1 (BBSome interacting protein 1, HGNC:28093) is a protein-coding gene on chromosome 10q25.2, encoding BBSome-interacting protein 1 (A8MTZ0). The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.

This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 92482 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliopathy (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 113 total — 2 pathogenic
• Phenotypes (HPO): 99
• MANE Select transcript: NM_001195305

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28093
Approved symbol	BBIP1
Name	BBSome interacting protein 1
Location	10q25.2
Locus type	gene with protein product
Status	Approved
Aliases	bA348N5.3, BBIP10, BBS18
Ensembl gene	ENSG00000214413
Ensembl biotype	protein_coding
OMIM	613605
Entrez	92482

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000398289, ENST00000422050, ENST00000423273, ENST00000431847, ENST00000436562, ENST00000447005, ENST00000448814, ENST00000454061, ENST00000605265, ENST00000605742, ENST00000651766, ENST00000651952, ENST00000652043, ENST00000652396, ENST00000652400, ENST00000928056, ENST00000928057, ENST00000963483

RefSeq mRNA: 5 — MANE Select: NM_001195305 NM_001195304, NM_001195305, NM_001195306, NM_001195307, NM_001243783

CCDS: CCDS55726, CCDS55727, CCDS55728, CCDS58094

Canonical transcript exons

ENST00000448814 — 4 exons

Exon	Start	End
ENSE00001673378	110919121	110919180
ENSE00001759455	110898730	110900526
ENSE00003502477	110918121	110918213
ENSE00003571674	110901538	110901612

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 98.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.8109 / max 351.3502, expressed in 1786 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111404	23.1196	1785
111406	0.8874	587
111405	0.6119	308
111403	0.1921	71

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelium of nasopharynx	UBERON:0001951	98.60	gold quality
buccal mucosa cell	CL:0002336	98.54	gold quality
sperm	CL:0000019	98.24	gold quality
pharyngeal mucosa	UBERON:0000355	97.71	gold quality
left testis	UBERON:0004533	97.69	gold quality
right testis	UBERON:0004534	97.44	gold quality
superior surface of tongue	UBERON:0007371	97.41	gold quality
tendon of biceps brachii	UBERON:0008188	97.40	gold quality
male germ cell	CL:0000015	97.30	gold quality
mammalian vulva	UBERON:0000997	97.30	gold quality
parotid gland	UBERON:0001831	97.15	gold quality
caput epididymis	UBERON:0004358	96.96	gold quality
body of tongue	UBERON:0011876	96.87	gold quality
corpus epididymis	UBERON:0004359	96.76	gold quality
mammary duct	UBERON:0001765	96.61	gold quality
testis	UBERON:0000473	96.59	gold quality
cauda epididymis	UBERON:0004360	96.46	gold quality
oral cavity	UBERON:0000167	96.45	gold quality
pericardium	UBERON:0002407	96.21	gold quality
tongue	UBERON:0001723	95.91	gold quality
adult organism	UBERON:0007023	95.54	gold quality
pylorus	UBERON:0001166	95.44	gold quality
epithelium of mammary gland	UBERON:0003244	95.33	gold quality
bronchial epithelial cell	CL:0002328	95.23	gold quality
ganglionic eminence	UBERON:0004023	94.97	gold quality
tendon	UBERON:0000043	94.94	gold quality
medial globus pallidus	UBERON:0002477	94.90	gold quality
islet of Langerhans	UBERON:0000006	94.79	gold quality
ventricular zone	UBERON:0003053	94.59	gold quality
cardia of stomach	UBERON:0001162	94.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	25.41
E-ANND-3	yes	4.67
E-MTAB-6142	no	76.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

114 targeting BBIP1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1250-3P	99.96	70.04	4038
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-302E	99.96	70.74	2669
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-5582-3P	99.86	72.48	4221

Literature-anchored findings (GeneRIF, showing 1)

• Identification of BBIP1 as the 18th BBS gene (BBS18), BBSome assembly may represent a unifying pathomechanism for Bardet-Biedl syndrome. (PMID:24026985)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	bbip1	ENSDARG00000071046
mus_musculus	Bbip1	ENSMUSG00000084957
rattus_norvegicus	Bbip1	ENSRNOG00000047019
caenorhabditis_elegans		WBGENE00019482

Protein

Protein identifiers

BBSome-interacting protein 1 — A8MTZ0 (reviewed: A8MTZ0)

Alternative names: BBSome-interacting protein of 10 kDa

All UniProt accessions (3): A8MTZ0, A0A494C180, E9PIK7

UniProt curated annotations — full annotation on UniProt →

Function. The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation.

Subunit / interactions. Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. Interacts with HDAC6.

Subcellular location. Cell projection. Cilium. Cytoplasm.

Disease relevance. Bardet-Biedl syndrome 18 (BBS18) [MIM:615995] A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the BBIP10 family.

Isoforms (4)

UniProt ID	Names	Canonical?
A8MTZ0-1	1	yes
A8MTZ0-2	2
A8MTZ0-3	3
A8MTZ0-4	4

RefSeq proteins (5): NP_001182233, NP_001182234, NP_001182235, NP_001182236, NP_001230712 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028233	BBIP10	Family

Pfam: PF14777

UniProt features (6 total): splice variant 3, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6XT9	ELECTRON MICROSCOPY	3.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MTZ0-F1	82.24	0.55

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-5620922	BBSome-mediated cargo-targeting to cilium
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-5617833	Cilium Assembly
R-HSA-5620920	Cargo trafficking to the periciliary membrane

MSigDB gene sets: 357 (showing top): GOBP_B_CELL_HOMEOSTASIS, GOBP_BEHAVIOR, GOBP_MYELOID_CELL_HOMEOSTASIS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOBP_LYMPHOCYTE_HOMEOSTASIS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_EATING_BEHAVIOR, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MARTINEZ_RB1_TARGETS_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, SCHLOSSER_SERUM_RESPONSE_DN

GO Biological Process (12): B cell homeostasis (GO:0001782), gene expression (GO:0010467), protein transport (GO:0015031), Wnt signaling pathway (GO:0016055), erythrocyte homeostasis (GO:0034101), eating behavior (GO:0042755), cilium assembly (GO:0060271), receptor localization to non-motile cilium (GO:0097500), leukocyte homeostasis (GO:0001776), lymphocyte homeostasis (GO:0002260), myeloid cell homeostasis (GO:0002262), cell projection organization (GO:0030030)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): cytoplasm (GO:0005737), cytosol (GO:0005829), BBSome (GO:0034464), ciliary membrane (GO:0060170), cilium (GO:0005929), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Cargo trafficking to the periciliary membrane	1
Organelle biogenesis and maintenance	1
Assembly of the 9+0 primary cilium	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
immune system process	2
homeostasis of number of cells	2
cilium	2
lymphocyte homeostasis	1
macromolecule biosynthetic process	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
cell surface receptor signaling pathway	1
myeloid cell homeostasis	1
feeding behavior	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
protein localization to non-motile cilium	1
protein localization to ciliary membrane	1
leukocyte homeostasis	1
cellular component organization	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
protein-containing complex	1
cell projection membrane	1
bounding membrane of organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

23 interactions, top by confidence:

A	B	Type	Score
BBIP1	BBS4	psi-mi:“MI:0915”(physical association)	0.810
BBS4	BBIP1	psi-mi:“MI:0915”(physical association)	0.810
BBS4	BBIP1	psi-mi:“MI:0914”(association)	0.810
BBS5	BBIP1	psi-mi:“MI:0914”(association)	0.510
BBIP1	H1-4	psi-mi:“MI:0915”(physical association)	0.400
TTC8	BBIP1	psi-mi:“MI:0914”(association)	0.350
BBIP1	BBS7	psi-mi:“MI:0914”(association)	0.350
BBIP1	PCM1	psi-mi:“MI:0914”(association)	0.350
PCM1	BBIP1	psi-mi:“MI:0914”(association)	0.350
BBIP1	IQCB1	psi-mi:“MI:0403”(colocalization)	0.270
BBIP1	ARL6	psi-mi:“MI:0403”(colocalization)	0.270
BBIP1	BBS5	psi-mi:“MI:0915”(physical association)	0.000
BBIP1	TTC8	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): BBIP1 (Affinity Capture-RNA), BBS5 (Affinity Capture-MS), TTC8 (Affinity Capture-MS), HIST1H1E (Proximity Label-MS), BBIP1 (Affinity Capture-MS), BBIP1 (Affinity Capture-RNA)

ESM2 similar proteins: A1STV0, A2VEA7, A3LV29, A6ZYK4, A8MTZ0, B0UTZ7, B3CMP5, C0R512, D3Z0R2, F4KIH4, O17213, O36405, O56774, P08013, P08593, P0CT86, P0DTD2, P0DTP1, P0DTP2, P12598, P12601, P13781, P17698, P35517, P39735, P40314, P53330, P69253, P69254, P76122, P80427, Q03233, Q06707, Q08172, Q08270, Q0I3R1, Q11194, Q2GG39, Q3YSH8, Q55G18

Diamond homologs: A7S3I2, A8MTZ0, Q1L8Y6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
BBIP1	“form complex”	“BBsome complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	71
Likely benign	28
Benign	3

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
126379	NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)	Pathogenic
626905	NM_001195305.3(BBIP1):c.109C>T (p.Gln37Ter)	Pathogenic

SpliceAI

640 predictions. Top by Δscore:

Variant	Effect	Δscore
10:110900525:CC:C	acceptor_gain	0.9900
10:110900526:CC:C	acceptor_gain	0.9900
10:110900527:C:CC	acceptor_gain	0.9900
10:110907678:A:C	donor_gain	0.9900
10:110919115:A:AC	donor_gain	0.9900
10:110919116:C:CC	donor_gain	0.9900
10:110919119:A:AC	donor_gain	0.9900
10:110919120:C:CC	donor_gain	0.9900
10:110900526:CCTAA:C	acceptor_loss	0.9700
10:110900527:C:CA	acceptor_loss	0.9700
10:110900528:T:A	acceptor_loss	0.9700
10:110901609:TTTC:T	acceptor_loss	0.9600
10:110901610:TTCC:T	acceptor_loss	0.9600
10:110901611:TC:T	acceptor_loss	0.9600
10:110901613:CTT:C	acceptor_loss	0.9600
10:110901614:T:A	acceptor_loss	0.9600
10:110901532:ACAT:A	donor_loss	0.9500
10:110901533:CATA:C	donor_loss	0.9500
10:110901534:ATAC:A	donor_loss	0.9500
10:110901535:TA:T	donor_loss	0.9500
10:110901537:CCT:C	donor_loss	0.9500
10:110901613:C:CC	acceptor_gain	0.9500
10:110901619:TGAGA:T	acceptor_loss	0.9500
10:110901620:GAGAA:G	acceptor_loss	0.9500
10:110901621:AGAAA:A	acceptor_loss	0.9500
10:110918950:T:TA	donor_gain	0.9500
10:110901622:GAAA:G	acceptor_loss	0.9400
10:110919120:CAG:C	donor_gain	0.9400
10:110900522:TGGCC:T	acceptor_gain	0.9300
10:110901616:CAA:C	acceptor_loss	0.9300

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000017070 (10:110914177 G>C), RS1000242332 (10:110915522 C>T), RS1000400345 (10:110914416 A>C,T), RS1000654877 (10:110917237 A>G), RS1000851669 (10:110904465 G>A,C), RS1000881103 (10:110904688 A>T), RS1000950881 (10:110915738 C>G), RS1000962950 (10:110908761 A>G), RS1001092335 (10:110910486 T>C), RS1001407758 (10:110904067 C>T), RS1001653283 (10:110921285 G>A), RS1001689289 (10:110904377 A>C), RS1001764404 (10:110904063 C>T), RS1001940799 (10:110910666 C>G,T), RS1001956869 (10:110917450 A>G)

Disease associations

OMIM: gene MIM:613605 | disease phenotypes: MIM:615995, MIM:209900, MIM:613172, MIM:146110

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliopathy	Definitive	Autosomal recessive
Bardet-Biedl syndrome 18	Strong	Autosomal recessive
Bardet-Biedl syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
ciliopathy	Definitive	AR

Mondo (10): Bardet-Biedl syndrome 18 (MONDO:0014446), Bardet-Biedl syndrome 1 (MONDO:0008854), dilated cardiomyopathy 1DD (MONDO:0013168), RASopathy (MONDO:0021060), hypogonadotropic hypogonadism 7 with or without anosmia (MONDO:0007794), obesity disorder (MONDO:0011122), specific learning disability (MONDO:0016225), postaxial polydactyly of fingers (MONDO:0017426), ciliopathy (MONDO:0005308), Bardet-Biedl syndrome (MONDO:0015229)

Orphanet (8): Bardet-Biedl syndrome (Orphanet:110), Familial isolated dilated cardiomyopathy (Orphanet:154), RASopathy (Orphanet:536391), Specific learning disability (Orphanet:211047), Normosmic congenital hypogonadotropic hypogonadism (Orphanet:432), Obesity due to melanocortin 4 receptor deficiency (Orphanet:71529), NON RARE IN EUROPE: Non rare obesity (Orphanet:521399), OBSOLETE: Postaxial polydactyly of fingers (Orphanet:294942)

HPO phenotypes

99 total (30 of 99 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000011	Neurogenic bladder
HP:0000028	Cryptorchidism
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000085	Horseshoe kidney
HP:0000100	Nephrotic syndrome
HP:0000119	Abnormality of the genitourinary system
HP:0000126	Hydronephrosis
HP:0000135	Hypogonadism
HP:0000147	Polycystic ovaries
HP:0000163	Abnormal oral cavity morphology
HP:0000218	High palate
HP:0000278	Retrognathia
HP:0000316	Hypertelorism
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000388	Otitis media
HP:0000400	Macrotia
HP:0000426	Prominent nasal bridge
HP:0000470	Short neck
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000548	Cone/cone-rod dystrophy
HP:0000551	Color vision defect

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST010118_116	Type 2 diabetes	1.000000e-11
GCST010142_18	Fish- and plant-related diet	3.000000e-10
GCST010142_84	Fish- and plant-related diet	4.000000e-08
GCST011956_46	Systemic lupus erythematosus	3.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
D000067559	Specific Learning Disorder	C10.597.606.150.550.700; C23.888.592.604.150.550.700; F03.625.374.188.700; F03.625.562.700
C537909	Bardet-Biedl syndrome 1 (supp.)
C567725	Cardiomyopathy, Dilated, 1DD (supp.)
C562785	Idiopathic Hypogonadotropic Hypogonadism (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation	7
bisphenol A	affects cotreatment, increases methylation, increases expression	2
trichostatin A	affects cotreatment, decreases expression	2
entinostat	decreases expression, affects cotreatment	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, increases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	decreases expression	1
NSC 689534	affects binding, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Copper	affects binding, increases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Nickel	decreases expression	1
Tetrachlorodibenzodioxin	increases expression, affects cotreatment	1
Thimerosal	increases expression	1
Thiram	increases expression	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00076362	PHASE4	COMPLETED	Pediatric Hypothalamic Obesity
NCT00079547	PHASE4	COMPLETED	The Safety and Effectiveness of Low and High Carbohydrate Diets
NCT00115063	PHASE4	TERMINATED	LOSS- Louisiana Obese Subjects Study
NCT00134303	PHASE4	COMPLETED	Trial Comparing Metformin Versus Placebo in Non Alcoholic Steatohepatitis (NASH) Patients Receiving Bariatric Surgery for Obesity
NCT00143936	PHASE4	COMPLETED	The Safety and Efficacy of Low and High Carbohydrate Diets
NCT00143962	PHASE4	COMPLETED	Comparison of Two Approaches to Weight Loss Follow-Up Study
NCT00152360	PHASE4	COMPLETED	The Effect of Xenical on Weight and Risk Factors
NCT00176306	PHASE4	COMPLETED	Levofloxacin Pharmacokinetics (PK) in the Severely Obese
NCT00203450	PHASE4	COMPLETED	Zonegran for the Treatment of Weight Gain Associated With Psychotropic Medication Use: A Placebo-Controlled Trial
NCT00205504	PHASE4	COMPLETED	Oral Contraceptives in the Metabolic Syndrome
NCT00229229	PHASE4	TERMINATED	Comparison of 4 Diets in the Management of Overweight Patients With Vascular Disease
NCT00234988	PHASE4	COMPLETED	A Phase IV, Multi-Center, Open-Label Trial of Sibutramine in Combination With a Hypocaloric Diet in Obese and Overweight Thai Subjects.
NCT00264589	PHASE4	COMPLETED	Exercise Training and Cardiovascular Function in Obesity and in Type 2 Diabetes
NCT00288873	PHASE4	COMPLETED	Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity
NCT00298857	PHASE4	TERMINATED	A Pharmacokinetic Study to Compare the Dosing of Valproic Acid in Subjects With Different Body Weights
NCT00315146	PHASE4	COMPLETED	Optimizing Body Composition for Function in Older Adults
NCT00319202	PHASE4	TERMINATED	Clinical Trial to Assess the Effects of Candesartan on the Carbohydrate Metabolism of Obese Subjects
NCT00327912	PHASE4	UNKNOWN	Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Biliopancreatic Diversion (BPD)- Duodenal Switch for Superobesity
NCT00352287	PHASE4	COMPLETED	Study to Determine the Effects of Human Growth Hormone and Pioglitazone in Overweight, Prediabetic Adults
NCT00353054	PHASE4	COMPLETED	Effect of Calcium/Vitamin D Supplementation on Body Weight and Fat Loss.
NCT00390637	PHASE4	COMPLETED	Diet, Obesity and Genes (DiOGenes)
NCT00415688	PHASE4	COMPLETED	Lifestyle Modification for Obesity-Related Type 2 Diabetes
NCT00433641	PHASE4	COMPLETED	Weight Loss in Response to Sibutramine (MERIDIA) is Influenced by the Inherited Genes
NCT00440375	PHASE4	COMPLETED	Effects of Rosiglitazone on Bone in Postmenopausal Diabetic Women
NCT00453557	PHASE4	COMPLETED	Mechanism of Growth Hormone Effects on Adipose Tissue
NCT00456885	PHASE4	COMPLETED	The Effect of Exenatide on Weight and Hunger in Obese, Healthy Women
NCT00463112	PHASE4	COMPLETED	Effect of Diet Plus Sibutramine on Hormonal and Metabolic Features in Overweight and Obese Women With PCOS
NCT00512187	PHASE4	COMPLETED	Moderate Weight Loss Makes Obese Patients With Severe Chronic Plaque Psoriasis Responsive to Sub-Optimal Dose of Cyclosporine: an Investigator Blinded, Controlled, Randomized Clinical Trial
NCT00516919	PHASE4	COMPLETED	Study of Behavioral Weight Loss Therapy for Obesity and Binge Eating in Monolingual Hispanic Persons
NCT00522470	PHASE4	COMPLETED	Effects of Rosiglitazone on Serum Ghrelin and Peptide YY Levels
NCT00537810	PHASE4	COMPLETED	Treatment of Binge Eating in Obese Patients in Primary Care
NCT00538486	PHASE4	COMPLETED	A Randomized, Double-Blind, Active Control Trial Comparing Effects of Telmisartan, Candesartan and Amlodipine, Alone or Plus Metformin, on Non-Diabetic, Obese Hypertensive Patients
NCT00584389	PHASE4	TERMINATED	The Effect of Rimonabant on Energy Expenditure, Fat Metabolism and Body Composition
NCT00585182	PHASE4	COMPLETED	Study to Evaluate Weight-based Enoxaparin Dosing in Obese Medical Patients at Risk for DVT
NCT00632840	PHASE4	COMPLETED	Pharmacological Regulation of Fat Transport in Metabolic Syndrome
NCT00636142	PHASE4	COMPLETED	Effects of Infliximab on Insulin Sensitivity and Beta Cell Function in Insulin Resistant Human Obesity
NCT00675987	PHASE4	COMPLETED	A Randomized Clinical Trial To Study Losartan On Endothelial Dysfunction and Insulin Resistance In Obese Patients
NCT00694811	PHASE4	COMPLETED	Effects of Re-Feeding Duration on Weight Maintenance After Weight Loss With Very-Low-Energy Diets (VLEDs)
NCT00699413	PHASE4	TERMINATED	Supplements for Controlling Resistance to Insulin
NCT00729963	PHASE4	COMPLETED	Sibutramine Versus Continuous Positive Airway Pressure (CPAP)in Obstructive Sleep Apnea (OSA) Patients