TMBIM1

Summary

TMBIM1 (transmembrane BAX inhibitor motif containing 1, HGNC:23410) is a protein-coding gene on chromosome 2q35, encoding Protein lifeguard 3 (Q969X1). Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.

Enables death receptor binding activity. Involved in negative regulation of Fas signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of protein localization to plasma membrane. Located in Golgi membrane; endosome membrane; and lysosomal membrane.

Source: NCBI Gene 64114 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• MANE Select transcript: NM_022152

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23410
Approved symbol	TMBIM1
Name	transmembrane BAX inhibitor motif containing 1
Location	2q35
Locus type	gene with protein product
Status	Approved
Aliases	PP1201, RECS1, LFG3
Ensembl gene	ENSG00000135926
Ensembl biotype	protein_coding
OMIM	610364
Entrez	64114

Gene structure

Transcript identifiers

Ensembl transcripts: 45 — 38 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay

ENST00000258412, ENST00000396809, ENST00000413976, ENST00000418569, ENST00000420341, ENST00000425694, ENST00000429501, ENST00000434015, ENST00000437694, ENST00000439306, ENST00000440422, ENST00000444000, ENST00000444183, ENST00000444881, ENST00000445635, ENST00000451181, ENST00000453281, ENST00000453776, ENST00000465082, ENST00000466012, ENST00000476429, ENST00000492966, ENST00000495113, ENST00000901788, ENST00000901789, ENST00000901790, ENST00000901791, ENST00000901792, ENST00000901793, ENST00000901794, ENST00000901795, ENST00000901796, ENST00000901797, ENST00000901798, ENST00000901799, ENST00000901800, ENST00000901801, ENST00000901802, ENST00000901803, ENST00000901804, ENST00000955611, ENST00000955612, ENST00000955613, ENST00000955614, ENST00000955615

RefSeq mRNA: 10 — MANE Select: NM_022152 NM_001321427, NM_001321428, NM_001321429, NM_001321430, NM_001321432, NM_001321433, NM_001321435, NM_001321436, NM_001321438, NM_022152

CCDS: CCDS2412

Canonical transcript exons

ENST00000258412 — 12 exons

Exon	Start	End
ENSE00001833831	218292466	218292503
ENSE00001925307	218274197	218275621
ENSE00003483501	218276026	218276079
ENSE00003495279	218277004	218277099
ENSE00003542248	218280026	218280126
ENSE00003568348	218278515	218278565
ENSE00003656375	218279038	218279091
ENSE00003657766	218279289	218279353
ENSE00003659559	218277366	218277453
ENSE00003663121	218277633	218277670
ENSE00003693864	218277935	218277974
ENSE00003695464	218281940	218282181

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 107.6682 / max 727.4569, expressed in 1742 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
33950	82.7516	1708
33951	22.5757	1681
33947	0.7536	433
33942	0.7161	416
33943	0.5546	306
33949	0.2953	99
33946	0.0212	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.41	gold quality
descending thoracic aorta	UBERON:0002345	99.14	gold quality
thoracic aorta	UBERON:0001515	99.09	gold quality
ascending aorta	UBERON:0001496	99.08	gold quality
body of pancreas	UBERON:0001150	99.07	gold quality
esophagus mucosa	UBERON:0002469	99.06	gold quality
body of stomach	UBERON:0001161	99.03	gold quality
mucosa of stomach	UBERON:0001199	98.98	gold quality
right lung	UBERON:0002167	98.92	gold quality
aorta	UBERON:0000947	98.87	gold quality
gall bladder	UBERON:0002110	98.81	gold quality
skin of leg	UBERON:0001511	98.77	gold quality
skin of abdomen	UBERON:0001416	98.76	gold quality
popliteal artery	UBERON:0002250	98.75	gold quality
tibial artery	UBERON:0007610	98.75	gold quality
islet of Langerhans	UBERON:0000006	98.74	gold quality
right coronary artery	UBERON:0001625	98.73	gold quality
left lobe of thyroid gland	UBERON:0001120	98.70	gold quality
left coronary artery	UBERON:0001626	98.70	gold quality
upper lobe of left lung	UBERON:0008952	98.70	gold quality
esophagus	UBERON:0001043	98.69	gold quality
artery	UBERON:0001637	98.67	gold quality
omental fat pad	UBERON:0010414	98.66	gold quality
right lobe of thyroid gland	UBERON:0001119	98.64	gold quality
peritoneum	UBERON:0002358	98.64	gold quality
stomach	UBERON:0000945	98.57	gold quality
coronary artery	UBERON:0001621	98.56	gold quality
adipose tissue of abdominal region	UBERON:0007808	98.55	gold quality
ectocervix	UBERON:0012249	98.49	gold quality
tibial nerve	UBERON:0001323	98.47	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	6.25
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

54 targeting TMBIM1, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-4480	99.42	66.02	735
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-140-3P	99.04	67.69	1324
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-3689A-5P	98.35	70.12	1049
HSA-MIR-3689B-5P	98.35	70.12	1049
HSA-MIR-3689E	98.35	70.12	1049
HSA-MIR-3689F	98.35	70.08	1052

Literature-anchored findings (GeneRIF, showing 8)

• The tmbim1 may participate in cell death regulation by interacting with proteins of Bcl-2 family, promoting tumor metastasis, which is deduced from the evolutionary conservation of the membrane protein family containing multiple membrane spanning segments (PMID:18440869)
• data suggest that PP1201 functions as an anti-apoptotic protein and its increased expression in vascular cells can contribute to homeostasis by reducing Fas trafficking to the cell membrane (PMID:21107705)
• These results suggest that the TMBIM family has comparable functions in the maintenance of intracellular Ca(2) homeostasis in a wide variety of tissues (PMID:25764978)
• The combined analysis identified a new risk association for colorectal cancer (CRC) at 2q35 marked by rs992157 which is intronic to PNKD and TMBIM1.Intriguingly this susceptibility single-nucleotide polymorphism (SNP) is in strong linkage disequilibrium (r(2) = 0.90, D’ = 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD). (PMID:27005424)
• TMBIM1 is an effective suppressor of steatohepatitis and a previously unknown regulator of the multivesicular body (MVB)-lysosomal pathway. (PMID:28481357)
• We aimed to replicate the association of rs992157 with CRC in the Chinese population and to further determine the real susceptible gene of CRC as indicated by this variant. Variant rs992157 is significantly associated with the susceptibility and progression of colorectal cancer. It can increase the risk of CRC possibly via up-regulation of TMBIM1. (PMID:30447906)
• Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences. (PMID:34099068)
• MicroRNA-582-3p knockdown alleviates non-alcoholic steatohepatitis by altering the gut microbiota composition and moderating TMBIM1. (PMID:37823951)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmbim1a	ENSDARG00000058323
danio_rerio	tmbim1b	ENSDARG00000109373
mus_musculus	Tmbim1	ENSMUSG00000006301
rattus_norvegicus	Tmbim1	ENSRNOG00000014797
drosophila_melanogaster	Nmda1	FBGN0013305
drosophila_melanogaster	Lfg	FBGN0025692
drosophila_melanogaster	Recs1	FBGN0038209
drosophila_melanogaster	CG30379	FBGN0050379
caenorhabditis_elegans		WBGENE00006470
caenorhabditis_elegans		WBGENE00009580
caenorhabditis_elegans		WBGENE00021537

Paralogs (5): FAIM2 (ENSG00000135472), TMBIM6 (ENSG00000139644), TMBIM4 (ENSG00000155957), GHITM (ENSG00000165678), GRINA (ENSG00000178719)

Protein

Protein identifiers

Protein lifeguard 3 — Q969X1 (reviewed: Q969X1)

Alternative names: Protein RECS1 homolog, Transmembrane BAX inhibitor motif-containing protein 1

All UniProt accessions (16): A0A1D5RMQ2, B3KSM0, B4DUD2, C9IYT2, C9IZ27, C9JAK9, C9JAP5, C9JDV0, C9JEN3, Q969X1, C9JI44, C9JM62, C9JN47, C9JW19, C9JWV9, F8WDY4

UniProt curated annotations — full annotation on UniProt →

Function. Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.

Subcellular location. Membrane. Lysosome membrane. Endosome membrane.

Similarity. Belongs to the BI1 family. LFG subfamily.

RefSeq proteins (10): NP_001308356, NP_001308357, NP_001308358, NP_001308359, NP_001308361, NP_001308362, NP_001308364, NP_001308365, NP_001308367, NP_071435* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006214	Bax_inhibitor_1-related	Family

Pfam: PF01027

UniProt features (15 total): transmembrane region 7, modified residue 2, region of interest 2, chain 1, compositionally biased region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969X1-F1	77.32	0.47

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): 81, 83

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 297 (showing top): GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_VIA_DEATH_DOMAIN_RECEPTORS, GOBP_APOPTOTIC_SIGNALING_PATHWAY, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (8): negative regulation of catalytic activity (GO:0043086), negative regulation of neuron apoptotic process (GO:0043524), apoptotic signaling pathway (GO:0097190), negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042), negative regulation of Fas signaling pathway (GO:1902045), negative regulation of protein localization to plasma membrane (GO:1903077), positive regulation of blood vessel remodeling (GO:2000504), calcium ion transmembrane transport (GO:0070588)

GO Molecular Function (3): death receptor binding (GO:0005123), calcium channel activity (GO:0005262), protein binding (GO:0005515)

GO Cellular Component (11): Golgi membrane (GO:0000139), lysosomal membrane (GO:0005765), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), endosome membrane (GO:0010008), membrane (GO:0016020), specific granule membrane (GO:0035579), extracellular exosome (GO:0070062), lysosome (GO:0005764), endosome (GO:0005768)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Innate Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endomembrane system	3
bounding membrane of organelle	2
cytoplasm	2
intracellular membrane-bounded organelle	2
catalytic activity	1
negative regulation of molecular function	1
regulation of catalytic activity	1
negative regulation of apoptotic process	1
regulation of neuron apoptotic process	1
neuron apoptotic process	1
apoptotic process	1
signal transduction	1
extrinsic apoptotic signaling pathway via death domain receptors	1
regulation of extrinsic apoptotic signaling pathway via death domain receptors	1
negative regulation of extrinsic apoptotic signaling pathway	1
negative regulation of signal transduction	1
Fas signaling pathway	1
regulation of Fas signaling pathway	1
protein localization to plasma membrane	1
regulation of protein localization to plasma membrane	1
negative regulation of protein localization to cell periphery	1
negative regulation of protein localization to membrane	1
blood vessel remodeling	1
positive regulation of tissue remodeling	1
regulation of blood vessel remodeling	1
calcium ion transport	1
monoatomic cation transmembrane transport	1
tumor necrosis factor receptor superfamily binding	1
monoatomic cation channel activity	1
calcium ion transmembrane transporter activity	1
binding	1
Golgi apparatus	1
lysosome	1
lytic vacuole membrane	1
membrane	1
cell periphery	1
endosome	1
cytoplasmic vesicle membrane	1
cellular anatomical structure	1
secretory granule membrane	1

Protein interactions and networks

STRING

748 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMBIM1	TMBIM6	P55061	656
TMBIM1	GHITM	Q9H3K2	640
TMBIM1	MMP2	P08253	548
TMBIM1	MMP9	P14780	529
TMBIM1	RUFY4	Q6ZNE9	464
TMBIM1	APOOL	Q6UXV4	432
TMBIM1	ZNF142	P52746	414
TMBIM1	RNF25	Q96BH1	399
TMBIM1	GLYATL2	Q8WU03	366
TMBIM1	ARPC2	O15144	360
TMBIM1	AAMP	Q13685	350
TMBIM1	UCMA	Q8WVF2	346
TMBIM1	ITGA9	Q13797	338
TMBIM1	HOMER3	Q9NSC5	333
TMBIM1	MAP3K5	Q99683	332

IntAct

39 interactions, top by confidence:

A	B	Type	Score
SLC17A5	LGALS8	psi-mi:“MI:0914”(association)	0.640
TMBIM1	TMEM242	psi-mi:“MI:0915”(physical association)	0.560
TMBIM1	PROK2	psi-mi:“MI:0915”(physical association)	0.560
GGT6	TMBIM1	psi-mi:“MI:0915”(physical association)	0.560
B3GALNT2	TMBIM1	psi-mi:“MI:0915”(physical association)	0.560
BIK	TMBIM1	psi-mi:“MI:0915”(physical association)	0.560
CD33	TMBIM1	psi-mi:“MI:0915”(physical association)	0.560
RIC3	TMBIM1	psi-mi:“MI:0915”(physical association)	0.560
SLC10A1	TMBIM1	psi-mi:“MI:0915”(physical association)	0.560
TMBIM1	F2RL1	psi-mi:“MI:0915”(physical association)	0.370
SOCS5	TMBIM1	psi-mi:“MI:0915”(physical association)	0.370
TMBIM1	RCHY1	psi-mi:“MI:0915”(physical association)	0.370
Npc1	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC16A10	STXBP3	psi-mi:“MI:0914”(association)	0.350
SLC30A10	GOLIM4	psi-mi:“MI:0914”(association)	0.350
SLC35F6	TP53I11	psi-mi:“MI:0914”(association)	0.350
TRIM63	TMBIM1	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	TMBIM1	psi-mi:“MI:0915”(physical association)	0.000
TMBIM1	PROK2	psi-mi:“MI:0915”(physical association)	0.000
TMBIM1	BIK	psi-mi:“MI:0915”(physical association)	0.000
TMBIM1	GGT6	psi-mi:“MI:0915”(physical association)	0.000
B3GALNT2	TMBIM1	psi-mi:“MI:0915”(physical association)	0.000
TMBIM1	CD33	psi-mi:“MI:0915”(physical association)	0.000
TMBIM1	RIC3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (29): TMBIM1 (Affinity Capture-RNA), TMBIM1 (Affinity Capture-RNA), TMBIM1 (Affinity Capture-MS), TMBIM1 (Two-hybrid), TMBIM1 (Two-hybrid), TMBIM1 (Two-hybrid), B3GALNT2 (Two-hybrid), PROK2 (Two-hybrid), RIC3 (Two-hybrid), GGT6 (Two-hybrid), TMEM242 (Two-hybrid), TMBIM1 (Two-hybrid), TMBIM1 (Two-hybrid), TMBIM1 (Two-hybrid), TMBIM1 (Affinity Capture-RNA)

ESM2 similar proteins: F4JIE8, O25578, O31539, O51489, O74888, O84826, O95562, P0AAC4, P0AAC5, P0AAC6, P0AAC7, P0DA10, P0DA11, P0DXN1, P0DXN2, P0DXN3, P44477, P48558, P55061, P55062, P63701, P63702, Q0V882, Q11080, Q4FZV2, Q54K40, Q5R7R1, Q5U3Y5, Q5XDQ1, Q66RM2, Q8BJZ3, Q8P2D4, Q94A20, Q969X1, Q9A1B9, Q9A2A3, Q9CEU8, Q9CNM5, Q9D2C7, Q9DA39

Diamond homologs: F4JIE8, O74888, O88407, P0DXN1, P0DXN2, P0DXN3, Q1LZ71, Q32L53, Q5R4I4, Q6P6R0, Q7Z429, Q8BJZ3, Q8K097, Q969X1, Q9A2A3, Q9BWQ8, Q9DA39, Q9ESF4, Q9HC24, Q9ZQX7, Q9M1V9, Q9SA63, O31539, Q03268, Q11080, Q94A20, Q9CEU8, Q9KSA1, Q9PIQ8, Q9ZKT1, O25578, P0AAC4, P0AAC5, P55061, Q5R7R1, P48558, Q9IA79

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1721 predictions. Top by Δscore:

Variant	Effect	Δscore
2:218275617:AGGAA:A	acceptor_gain	1.0000
2:218275618:GGAA:G	acceptor_gain	1.0000
2:218275619:GAA:G	acceptor_gain	1.0000
2:218275620:AA:A	acceptor_gain	1.0000
2:218275622:C:CC	acceptor_gain	1.0000
2:218275625:C:CT	acceptor_gain	1.0000
2:218275626:A:T	acceptor_gain	1.0000
2:218275630:A:AC	acceptor_gain	1.0000
2:218275630:A:C	acceptor_gain	1.0000
2:218276020:ACTT:A	donor_loss	1.0000
2:218276021:CTTA:C	donor_loss	1.0000
2:218276022:TTA:T	donor_loss	1.0000
2:218276023:TA:T	donor_loss	1.0000
2:218276024:A:AC	donor_gain	1.0000
2:218276024:ACC:A	donor_loss	1.0000
2:218276025:C:CG	donor_gain	1.0000
2:218276025:CCAG:C	donor_gain	1.0000
2:218276025:CCAGG:C	donor_gain	1.0000
2:218276076:AAACC:A	acceptor_loss	1.0000
2:218276078:ACC:A	acceptor_loss	1.0000
2:218276079:CCTGG:C	acceptor_loss	1.0000
2:218276080:C:CC	acceptor_gain	1.0000
2:218276080:C:CG	acceptor_loss	1.0000
2:218276081:T:G	acceptor_loss	1.0000
2:218276999:CTCA:C	donor_loss	1.0000
2:218277000:TCA:T	donor_loss	1.0000
2:218277001:CA:C	donor_loss	1.0000
2:218277002:A:AC	donor_gain	1.0000
2:218277003:C:CT	donor_gain	1.0000
2:218277003:CGT:C	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000013463 (2:218282245 C>G,T), RS1000176624 (2:218291309 CAGAG>C,CAG), RS1000286203 (2:218276914 G>A), RS1000474687 (2:218284052 TACTC>T), RS1001074305 (2:218285519 G>A), RS1001210494 (2:218292510 AGTCC>A), RS1001299952 (2:218290055 G>C), RS1001368339 (2:218288733 C>A), RS1001542417 (2:218293950 G>A,C,T), RS1001648130 (2:218289877 C>T), RS1001685247 (2:218283842 G>A), RS1001745546 (2:218284015 T>C), RS1001763480 (2:218274352 C>G), RS1001847183 (2:218280616 C>T), RS1001934428 (2:218278567 T>G)

Disease associations

OMIM: gene MIM:610364 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST001725_74	Inflammatory bowel disease	4.000000e-12
GCST004131_76	Inflammatory bowel disease	2.000000e-07
GCST004611_20	High light scatter reticulocyte count	9.000000e-16
GCST004619_54	Reticulocyte fraction of red cells	3.000000e-18
GCST004621_53	Red cell distribution width	2.000000e-13
GCST004622_155	Reticulocyte count	2.000000e-16
GCST004895_2	Colorectal cancer	2.000000e-09
GCST007209_19	Gallstone disease	1.000000e-08
GCST007856_77	Colorectal cancer or advanced adenoma	2.000000e-11
GCST90002386_274	High light scatter reticulocyte percentage of red cells	9.000000e-27
GCST90002405_150	Reticulocyte count	1.000000e-22
GCST90002406_68	Reticulocyte fraction of red cells	2.000000e-26
GCST90011900_175	Serum alkaline phosphatase levels	1.000000e-12
GCST90020028_757	Hip circumference adjusted for BMI	8.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count
EFO:0009188	Red cell distribution width
EFO:0004533	alkaline phosphatase 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

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

Chemical	Actions (top 5)	PubMed papers
cobaltous chloride	increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
potassium perchlorate	decreases expression	1
sodium arsenate	increases expression, increases abundance	1
beta-lapachone	increases expression	1
sulforaphane	increases expression	1
sodium arsenite	increases expression	1
aflatoxin B2	increases methylation	1
ciglitazone	affects binding, increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
bisphenol B	increases expression	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases 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	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Arsenic Trioxide	decreases response to substance	1
Leflunomide	increases expression	1
Arsenic	increases expression, increases abundance	1
Benzo(a)pyrene	increases expression	1
Carbamazepine	affects expression	1
Dexamethasone	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1

Clinical trials (associated diseases)

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