BAMBI

Summary

BAMBI (BMP and activin membrane bound inhibitor, HGNC:30251) is a protein-coding gene on chromosome 10p12.1, encoding BMP and activin membrane-bound inhibitor homolog (Q13145). Negatively regulates TGF-beta signaling.

This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis.

Source: NCBI Gene 25805 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 47 total — 2 pathogenic
• MANE Select transcript: NM_012342

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30251
Approved symbol	BAMBI
Name	BMP and activin membrane bound inhibitor
Location	10p12.1
Locus type	gene with protein product
Status	Approved
Aliases	NMA
Ensembl gene	ENSG00000095739
Ensembl biotype	protein_coding
OMIM	604444
Entrez	25805

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000375533, ENST00000497699, ENST00000913233, ENST00000963594

RefSeq mRNA: 1 — MANE Select: NM_012342 NM_012342

CCDS: CCDS7162

Canonical transcript exons

ENST00000375533 — 3 exons

Exon	Start	End
ENSE00000696847	28681258	28681545
ENSE00000816317	28681983	28682932
ENSE00001911553	28677521	28677973

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 98.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0465 / max 342.3412, expressed in 1431 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
104504	12.7293	1235
104503	4.3172	1157

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	98.13	gold quality
periodontal ligament	UBERON:0008266	97.46	gold quality
endometrium epithelium	UBERON:0004811	95.62	gold quality
left ovary	UBERON:0002119	94.76	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.56	gold quality
right atrium auricular region	UBERON:0006631	93.99	gold quality
cardiac atrium	UBERON:0002081	93.95	gold quality
cartilage tissue	UBERON:0002418	93.66	gold quality
ovary	UBERON:0000992	93.38	gold quality
adrenal tissue	UBERON:0018303	92.28	gold quality
right ovary	UBERON:0002118	92.11	gold quality
renal glomerulus	UBERON:0000074	90.53	gold quality
adrenal cortex	UBERON:0001235	90.11	gold quality
adrenal gland	UBERON:0002369	90.10	gold quality
left adrenal gland	UBERON:0001234	90.08	gold quality
right adrenal gland cortex	UBERON:0035827	89.87	gold quality
metanephric glomerulus	UBERON:0004736	89.83	gold quality
right adrenal gland	UBERON:0001233	89.68	gold quality
left adrenal gland cortex	UBERON:0035825	89.65	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.35	gold quality
metanephros	UBERON:0000081	89.00	gold quality
ascending aorta	UBERON:0001496	88.99	gold quality
placenta	UBERON:0001987	88.94	gold quality
thoracic aorta	UBERON:0001515	88.83	gold quality
spinal cord	UBERON:0002240	88.78	gold quality
myocardium	UBERON:0002349	88.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.30	gold quality
heart	UBERON:0000948	88.17	gold quality
seminal vesicle	UBERON:0000998	87.96	gold quality
urinary bladder	UBERON:0001255	87.83	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-MTAB-8205	yes	548.35
E-MTAB-3929	yes	254.61
E-HCAD-4	yes	177.46
E-MTAB-6701	yes	58.14
E-CURD-112	yes	16.39
E-MTAB-8271	yes	9.63
E-ANND-3	yes	8.61
E-MTAB-9388	yes	7.74

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1, FOXF2, HDAC1, IRF6, SMAD3, SMAD4, TCF4, TCF7L2

miRNA regulators (miRDB)

85 targeting BAMBI, 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-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
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

Literature-anchored findings (GeneRIF, showing 40)

• beta-catenin interferes with transforming growth factor-beta-mediated growth arrest by inducing the expression of BAMBI (PMID:14660579)
• Our findings suggest that BAMBI transcription is regulated by TGF-beta signaling through direct binding of SMAD3 and SMAD4 to the BAMBI promoter. (PMID:15240101)
• BAMBI was linked to a potentially aggressive tumor phenotype and predicted tumor recurrence and cancer-related death in CRC. (PMID:18756595)
• BAMBI interacts with Wnt receptor Frizzled5, coreceptor LRP6, and Dishevelled2 and increases the interaction between Frizzled5 and Dishevelled2 (PMID:18838381)
• hypermethylation of the BAMBI gene promoter that leads to BAMBI gene suppression may be one of the epigenetic events affecting the invasiveness or aggressiveness of bladder cancers (PMID:19326429)
• A colorectal cancer expression profile that includes transforming growth factor beta inhibitor BAMBI predicts metastatic potential. (PMID:19328798)
• Mechanistically, in addition to interfering with the complex formation between the type I and type II receptors, hBAMBI cooperates with Smad7 to inhibit TGF-beta signaling (PMID:19758997)
• Authors demonstrate for the first time a nuclear co-translocation of BAMBI with Smad2/3 upon TGF-geta treatment. Moreover, overexpression of BAMBI in an in vitro model led to significantly increased proliferation. (PMID:20189233)
• Expression of the TGF pseudoreceptor BAMBI in the human lung, which is upregulated in response to nontypeable Haemophilus influenzae infection in COPD lung tissue in vivo and in vitro. (PMID:20513241)
• BAMBI protein is expressed in endothelial cells and is regulated by autophagy and lysosomal degradation. (PMID:20886049)
• Data show that hepatoprotective effects of adiponectin include induction of BAMBI which is reduced in human fatty liver. (PMID:21496456)
• Alterations in BAMBI may play a role in the (patho)physiology of obesity, and manipulation of BAMBI may present a novel therapeutic approach to improve adipose tissue function. (PMID:22187378)
• Metformin-mediated Bambi expression in hepatic stellate cells induces prosurvival Wnt/beta-catenin signaling (PMID:22406377)
• Overexpression of BAMBI is associated with the growth and invasion of human osteosarcoma. (PMID:23807684)
• study demonstrates that LPS- and TNF-alpha-induced NF-kappaBp50-HDAC1 interaction represses BAMBI transcriptional activity, which contributes to TLR4-mediated enhancement of TGF-beta signaling in hepatic stellate cells during liver fibrosis. (PMID:24448807)
• BAMBI alone or in combination with Smad7 was significantly associated with the OS and DFS. These findings suggest that BAMBI and Smad7 may cooperatively inhibit the TGF-beta signaling, and thus promote the progression of gastric cancer. (PMID:24752577)
• The observations illuminated that BAMBI inhibits adipogenesis by a feedback loop (BAMBI–>beta-catenin nuclear translocation–>BAMBI), which forms with Wnt/beta-catenin signaling. (PMID:24798646)
• betacatenin expression was downregulated as a result of knocking down of BAMBI, and TGF-beta was downregulated in a similar manner. (PMID:24912656)
• TGFbeta target genes including TGFBI, BAMBI, COL3A1 and SERPINE1 are significantly increased in Diamond Blackfan Anemia induced pluripotent stem cells (PMID:26258650)
• Low BAMB1 expression is associated with Non-Small Cell Lung Cancer. (PMID:27197161)
• Lipopolysaccharides-mediated TLR4 signaling enhances TGF-beta response through downregulating BAMBI during prostatic hyperplasia. (PMID:27243216)
• Data show that BAMBI is expressed in both circulating CD4+ T cells and plasma and may be characterized as a novel immune regulator for COPD. Strikingly, BAMBI expression was significantly stronger in COPD patients and displayed strong correlations with enhanced plasma TGF-beta 1 levels and the Th17/Treg ratio. (PMID:27549738)
• These results showed that BMP2 activated SMAD1/5/8 phosphorylation and up-regulated BAMBI mRNA in human granulosa-lutein cells. (PMID:28578012)
• BAMBI promotes macrophage proliferation and differentiation in gliomas. (PMID:29286116)
• BAMBI expression is reduced in ALS4 patients due to methylation of promoter caused by decreased formation of R-loops due to mutation in senataxin (SETX) gene. (PMID:29395064)
• BAMBI is a direct target of miR-942 in the hepatic stellate cells in liver fibrosis. BAMBI expression is decreased in human hepatic fibrosis. (PMID:30097701)
• human BAMBI may function as a molecular switch to control TGFbeta signalling strength and the Th17/Treg cell balance (PMID:30320351)
• overexpression of BAMBI could decrease the ability of M2 macrophages to induce Treg differentiation (PMID:30728014)
• It was noted that BAMBI is a target of miR519d3p and miR519d3p promotes transforming growth factor beta/mothers against decapentaplegic homolog 9mediated postoperative epidural scar formation via suppression of BAMBI. (PMID:31485673)
• Downregulation of circDNMT3B contributes to vascular dysfunction in diabetic retinas through regulating miR-20b-5p and BAMBI, providing a potential treatment strategy for diabetic retinopathy (PMID:31636010)
• Bone morphogenetic protein 2 induces the activation of WNT/beta-catenin signaling and human trophoblast invasion through up-regulating BAMBI. (PMID:31786181)
• Adipose-specific BMP and activin membrane-bound inhibitor (BAMBI) deletion promotes adipogenesis by accelerating ROS production. (PMID:33158991)
• Overexpression of BAMBI and SMAD7 impacts prognosis of acute myeloid leukemia patients: A potential TERT non-canonical role. (PMID:33780363)
• miR-125a-3p aggravates ox-LDL-induced HUVEC injury through BAMBI. (PMID:35993694)
• BMP and activin membrane-bound inhibitor regulate connective tissue growth factor controlling mesothelioma cell proliferation. (PMID:36109807)
• Expression and Function of BMP and Activin Membrane-Bound Inhibitor (BAMBI) in Chronic Liver Diseases and Hepatocellular Carcinoma. (PMID:36834884)
• Hypoxia-responsive PPARGC1A/BAMBI/ACSL5 axis promotes progression and resistance to lenvatinib in hepatocellular carcinoma. (PMID:36932115)
• The regulatory effect of the YY1/miR-HCC2/BAMBI axis on the stemness of liver cancer cells. (PMID:36999621)
• Circular RNA circSP5 promotes liver metastasis of colorectal cancer via SP5-mediated BAMBI transcription. (PMID:37596430)
• Increased Levels of BAMBI Inhibit Canonical TGF-beta Signaling in Chronic Wound Tissues. (PMID:37626905)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	bambia	ENSDARG00000055381
danio_rerio	bambib	ENSDARG00000099677
mus_musculus	Bambi	ENSMUSG00000024232
rattus_norvegicus	Bambi	ENSRNOG00000016066

Paralogs (1): CATIP (ENSG00000158428)

Protein

Protein identifiers

BMP and activin membrane-bound inhibitor homolog — Q13145 (reviewed: Q13145)

Alternative names: Non-metastatic gene A protein, Putative transmembrane protein NMA

All UniProt accessions (1): Q13145

UniProt curated annotations — full annotation on UniProt →

Function. Negatively regulates TGF-beta signaling.

Subcellular location. Membrane.

Tissue specificity. High expression in kidney medulla, placenta and spleen; low in kidney cortex, liver, prostate and gut. Not expressed in normal skin, expression is high in melanocytes and in 3 out of 11 melanoma metastases tested.

Similarity. Belongs to the BAMBI family.

RefSeq proteins (1): NP_036474* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009345	BAMBI	Family
IPR045806	BAMBI_C	Domain
IPR045807	BAMBI_N	Domain
IPR045860	Snake_toxin-like_sf	Homologous_superfamily

Pfam: PF06211, PF19337

UniProt features (6 total): topological domain 2, signal peptide 1, chain 1, transmembrane region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13145-F1	64.81	0.04

Functional residue map

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

Glycosylation sites (1): 87

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-2173788	Downregulation of TGF-beta receptor signaling
R-HSA-162582	Signal Transduction
R-HSA-170834	Signaling by TGF-beta Receptor Complex
R-HSA-2173789	TGF-beta receptor signaling activates SMADs
R-HSA-9006936	Signaling by TGFB family members

MSigDB gene sets: 305 (showing top): LI_CISPLATIN_RESISTANCE_DN, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX, HNF3ALPHA_Q6, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, PEREZ_TP63_TARGETS, ENK_UV_RESPONSE_KERATINOCYTE_UP, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOZGIT_ESR1_TARGETS_DN, GOBP_OSTEOBLAST_DIFFERENTIATION, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, CHX10_01, AAAYRNCTG_UNKNOWN, YY1_Q6

GO Biological Process (10): transforming growth factor beta receptor signaling pathway (GO:0007179), positive regulation of cell population proliferation (GO:0008284), regulation of cell shape (GO:0008360), positive regulation of epithelial to mesenchymal transition (GO:0010718), cell migration (GO:0016477), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of BMP signaling pathway (GO:0030514), negative regulation of osteoblast differentiation (GO:0045668), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of canonical Wnt signaling pathway (GO:0090263)

GO Molecular Function (3): frizzled binding (GO:0005109), type II transforming growth factor beta receptor binding (GO:0005114), protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
TGF-beta receptor signaling activates SMADs	1
Signaling by TGFB family members	1
Signaling by TGF-beta Receptor Complex	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	2
cellular anatomical structure	2
cellular response to transforming growth factor beta stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
regulation of cell morphogenesis	1
regulation of biological quality	1
epithelial to mesenchymal transition	1
regulation of epithelial to mesenchymal transition	1
positive regulation of cell differentiation	1
positive regulation of multicellular organismal process	1
cell motility	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
BMP signaling pathway	1
regulation of BMP signaling pathway	1
negative regulation of cellular response to growth factor stimulus	1
osteoblast differentiation	1
negative regulation of cell differentiation	1
regulation of osteoblast differentiation	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
positive regulation of Wnt signaling pathway	1
canonical Wnt signaling pathway	1
regulation of canonical Wnt signaling pathway	1
G protein-coupled receptor binding	1
transforming growth factor beta receptor binding	1
binding	1
intracellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1044 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BAMBI	TGFBR1	P36897	847
BAMBI	SMAD7	O15105	845
BAMBI	TMSB10	P13472	825
BAMBI	TGFB1	P01137	677
BAMBI	ACVR2B	Q13705	640
BAMBI	BMP2	P12643	633
BAMBI	ACVR1	Q04771	633
BAMBI	ACVR2A	P27037	615
BAMBI	SMAD6	O43541	570
BAMBI	CHRD	Q9H2X0	559
BAMBI	S100A6	P06703	544
BAMBI	THRSP	Q92748	536
BAMBI	FZD5	Q13467	533
BAMBI	LRP6	O75581	526
BAMBI	BMP4	P12644	505

IntAct

14 interactions, top by confidence:

A	B	Type	Score
NKG7	BAMBI	psi-mi:“MI:0915”(physical association)	0.560
BAMBI	NKG7	psi-mi:“MI:0915”(physical association)	0.560
FZD5	BAMBI	psi-mi:“MI:0915”(physical association)	0.400
LRP6	BAMBI	psi-mi:“MI:0915”(physical association)	0.400
DVL2	BAMBI	psi-mi:“MI:0915”(physical association)	0.400
SELENOF	BAMBI	psi-mi:“MI:0915”(physical association)	0.370
SOX30	BAMBI	psi-mi:“MI:0915”(physical association)	0.370
	SHTN1	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10A	psi-mi:“MI:0914”(association)	0.350
SLC30A8	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
SLC43A1	PLPP1	psi-mi:“MI:0914”(association)	0.350
SLC4A1	UPK3BL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (22): BAMBI (Two-hybrid), NKG7 (Two-hybrid), BAMBI (Affinity Capture-MS), BAMBI (Affinity Capture-MS), BAMBI (Proximity Label-MS), BAMBI (Proximity Label-MS), BAMBI (Proximity Label-MS), BAMBI (Affinity Capture-RNA), BAMBI (Affinity Capture-MS), BAMBI (Affinity Capture-MS), BAMBI (Affinity Capture-MS), BAMBI (Two-hybrid), BAMBI (Reconstituted Complex), BAMBI (Reconstituted Complex), BAMBI (Reconstituted Complex)

ESM2 similar proteins: A4IG66, A5PLA0, A9ZLX4, D3Z1Q2, D3ZZP4, D5K8A9, F1M2Z5, O14525, P0C2L3, P0DKX4, Q08DP3, Q08EA8, Q13145, Q1LVN1, Q1RMT2, Q2F7Z7, Q3MHM8, Q3T0Q2, Q3URD2, Q4R8C8, Q502I1, Q58CU5, Q5BJN9, Q5R800, Q5RA41, Q5XJS0, Q5ZKK0, Q61137, Q6GM22, Q6PBK8, Q8BPM6, Q8C4Q9, Q8HYZ0, Q8IUW5, Q8K2J7, Q8N4K4, Q8N6S5, Q8NEA5, Q91XN4, Q96G30

Diamond homologs: Q13145, Q8HYZ0, Q91XN4, Q9D0L6

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
BAMBI	up-regulates	DVL2	binding
BAMBI	up-regulates	FZD5	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	38
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
4682768	GRCh37/hg19 10p12.1(chr10:27659942-29401622)x1	Pathogenic
59700	GRCh38/hg38 10p12.1-11.23(chr10:27767970-30046085)x3	Pathogenic

SpliceAI

340 predictions. Top by Δscore:

Variant	Effect	Δscore
10:28677973:GGTG:G	donor_loss	0.9900
10:28677974:G:C	donor_loss	0.9900
10:28677975:T:G	donor_loss	0.9900
10:28680364:A:AG	donor_gain	0.9800
10:28680364:A:G	donor_gain	0.9800
10:28681404:A:G	acceptor_gain	0.9800
10:28681980:TAGG:T	acceptor_loss	0.9800
10:28681981:AGG:A	acceptor_loss	0.9800
10:28681982:G:A	acceptor_loss	0.9800
10:28681340:TAGAC:T	acceptor_gain	0.9700
10:28681980:TAGGA:T	acceptor_gain	0.9700
10:28681981:AGGAC:A	acceptor_gain	0.9700
10:28681541:CTCAG:C	donor_loss	0.9600
10:28681542:TCAGG:T	donor_loss	0.9600
10:28681544:AGGT:A	donor_loss	0.9600
10:28681545:GG:G	donor_loss	0.9600
10:28681546:G:C	donor_loss	0.9600
10:28681547:T:G	donor_loss	0.9600
10:28681970:T:A	acceptor_loss	0.9600
10:28677974:G:GG	donor_gain	0.9500
10:28681256:A:AG	acceptor_gain	0.9500
10:28681257:G:GG	acceptor_gain	0.9500
10:28681252:TTTCA:T	acceptor_loss	0.9400
10:28681253:TTCAG:T	acceptor_loss	0.9400
10:28681254:TCAG:T	acceptor_loss	0.9400
10:28681255:CA:C	acceptor_loss	0.9400
10:28681256:A:AC	acceptor_loss	0.9400
10:28681981:A:AG	acceptor_gain	0.9400
10:28681982:G:GG	acceptor_gain	0.9400
10:28681341:AGACT:A	acceptor_gain	0.9300

AlphaMissense

1721 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:28681271:C:G	C30W	1.000
10:28681277:T:G	C32W	1.000
10:28681290:T:C	C37R	1.000
10:28681291:G:A	C37Y	1.000
10:28681292:T:G	C37W	1.000
10:28681334:C:G	C51W	1.000
10:28681496:T:A	N105K	1.000
10:28681496:T:G	N105K	1.000
10:28682079:T:A	V154D	1.000
10:28682082:T:A	I155N	1.000
10:28682085:C:A	A156D	1.000
10:28682091:C:A	P158H	1.000
10:28682091:C:G	P158R	1.000
10:28682097:C:A	A160D	1.000
10:28682099:G:A	G161R	1.000
10:28682099:G:C	G161R	1.000
10:28682100:G:A	G161E	1.000
10:28681269:T:A	C30S	0.999
10:28681269:T:C	C30R	0.999
10:28681270:G:A	C30Y	0.999
10:28681270:G:C	C30S	0.999
10:28681270:G:T	C30F	0.999
10:28681272:T:G	Y31D	0.999
10:28681275:T:A	C32S	0.999
10:28681275:T:C	C32R	0.999
10:28681276:G:A	C32Y	0.999
10:28681276:G:C	C32S	0.999
10:28681276:G:T	C32F	0.999
10:28681290:T:A	C37S	0.999
10:28681291:G:C	C37S	0.999

dbSNP variants (sampled 300 via entrez): RS1000060792 (10:28677355 C>A,G), RS1000127316 (10:28677877 C>G,T), RS1000433337 (10:28677274 C>T), RS1000503559 (10:28679973 C>CTTAG), RS1000898993 (10:28679567 C>T), RS1000928273 (10:28679747 C>G), RS1001161266 (10:28680165 T>C), RS1001709431 (10:28676315 C>A,T), RS1001779188 (10:28680364 A>G), RS1002140353 (10:28676472 C>T), RS1002183450 (10:28679122 A>C), RS1002516189 (10:28678125 G>A,C,T), RS1002723802 (10:28683044 C>T), RS1003193907 (10:28679319 C>A,G), RS1003218880 (10:28678237 C>A,G,T)

Disease associations

OMIM: gene MIM:604444 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001949_6	Preeclampsia	6.000000e-06
GCST002942_5	Percentage gas trapping	1.000000e-06
GCST005580_319	Intraocular pressure	6.000000e-09
GCST008504_8	Fasting glucose change (long-term)	4.000000e-06
GCST009391_458	Metabolite levels	3.000000e-06
GCST009391_461	Metabolite levels	6.000000e-06
GCST009963_11	Cataracts (operation)	4.000000e-08
GCST90000025_396	Appendicular lean mass	1.000000e-23
GCST90014268_22	Cataracts	2.000000e-21

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007628	gas trapping measurement
EFO:0004695	intraocular pressure measurement
EFO:0010522	phosphoenolpyruvic acid measurement
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, affects cotreatment, increases abundance, increases expression (+1 more)	9
Valproic Acid	increases expression, affects expression, increases methylation, affects cotreatment	8
Benzo(a)pyrene	decreases expression, increases expression	4
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	4
trichostatin A	affects cotreatment, increases expression	3
Formaldehyde	increases expression	3
Tretinoin	decreases expression, increases expression	3
Cyclosporine	decreases expression	3
bisphenol A	decreases expression, increases expression	2
arsenite	affects binding, increases reaction, increases methylation	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Acetaminophen	increases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Aflatoxin B1	increases methylation, affects expression	2
Cadmium Chloride	decreases expression, increases expression	2
tert-Butylhydroperoxide	affects expression, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
Glupearl 19S	increases expression	1
5-(3-(4-(4-benzylpiperazin-1-yl)-N-(4-phenylthiazol-2-yl))propanamide	decreases expression, decreases reaction, increases expression	1
sotorasib	affects cotreatment, increases expression	1
methylmercuric chloride	increases expression	1
lead acetate	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2SM	Abcam HEK293T BAMBI KO	Transformed cell line	Female
CVCL_D9A0	Ubigene HEK293 BAMBI KO	Transformed cell line	Female

Clinical trials (associated diseases)

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