• Gene id: 25805

Gene Summary

• Gene Symbol: BAMBI   Gene   UCSC   Ensembl
• Aliases: NMA
• Gene name: BMP and activin membrane bound inhibitor
• Alternate names: BMP and activin membrane-bound inhibitor homolog, non-metastatic gene A protein, putative transmembrane protein NMA,
• Gene location: 10p12.1 (8631368: 8474204)     Exons: 47     NC_000017.11
• Gene summary(Entrez): 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 encode
• OMIM: 604444

Protein Summary

• Protein general information: Q13145  
  • Name: BMP and activin membrane bound inhibitor homolog (Non metastatic gene A protein) (Putative transmembrane protein NMA)
  • Length: 260  
  • Mass: 29108
  • 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.
• Sequence:

  MDRHSSYIFIWLQLELCAMAVLLTKGEIRCYCDAAHCVATGYMCKSELSACFSRLLDPQNSNSPLTHGCLDSLAS
  TTDICQAKQARNHSGTTIPTLECCHEDMCNYRGLHDVLSPPRGEASGQGNRYQHDGSRNLITKVQELTSSKELWF
  RAAVIAVPIAGGLILVLLIMLALRMLRSENKRLQDQRQQMLSRLHYSFHGHHSKKGQVAKLDLECMVPVSGHENC
  CLTCDKMRQADLSNDKILSLVHWGMYSGHGKLEFV

• Structural information:
  • Interpro: IPR009345  
  • STRING: ENSP00000364683
• Other Databases: GeneCards:  BAMBI  Malacards:  BAMBI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005109	frizzled binding	IBA	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0005109	frizzled binding	IPI	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	TAS	molecular function
GO:0016477	cell migration	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0032092	positive regulation of protein binding	IMP	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Stomach cancer	PMID:24752577
Aortic valve stenosis	PMID:23168040
Chronic obstructive pulmonary disease	PMID:27549738
lung non-small cell carcinoma	PMID:20716422
colorectal cancer	PMID:18756595
colorectal cancer	PMID:29085481
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)